#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
PADI6	353238	broad.mit.edu	37	1	17727771	17727771	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:17727771G>A	ENST00000434762.2	+	0	1973							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGGGACCTGCTGCCTGGAA	0.537																																						uc001bak.1		NA																	0				breast(1)	1						c.(1921-1923)TGC>TAC		peptidylarginine deiminase type 6	L-Citrulline(DB00155)						69.0	74.0	73.0					1																	17727771		1914	4140	6054			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17727771G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727771G>A							p.C641Y	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	17	1922	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	633					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.1922G>A																																																																																					0.537	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	38	0	0	0	0	4	38				
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423																																						uc009vvt.1		NA																	0					0						c.(2143-2145)TGT>TGC		hypothetical protein LOC643314							110.0	107.0	108.0					1																	39878082		1921	4136	6057	SO:0001819	synonymous_variant	643314							g.chr1:39878082T>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1737T>C	1.37:g.39878082T>C						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.C715C	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2907	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	579					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.2145T>C																																																																																					0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	38	0	0	0	0	6	38				
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000543509.1_Missense_Mutation_p.S247N|RNU4-59P_ENST00000364447.1_RNA|EVI5_ENST00000540033.1_Missense_Mutation_p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308																																						uc001dox.2		NA																	0				ovary(1)|breast(1)	2						c.(739-741)AGT>AAT		ecotropic viral integration site 5							77.0	72.0	74.0					1																	93167729		2203	4299	6502	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93167729C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.740G>A	1.37:g.93167729C>T	ENSP00000359356:p.Ser247Asn					EVI5_uc010otf.1_Missense_Mutation_p.S247N	p.S247N	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	5	750	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	247			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.740G>A	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373381	0.82573	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.11277	2.79;2.79;2.79	5.61	5.61	0.85477	Rab-GAP/TBC domain (4);	0.074260	0.85682	D	0.000000	T	0.23688	0.0573	M	0.69248	2.105	0.80722	D	1	D;D	0.55605	0.966;0.972	P;P	0.61592	0.825;0.891	T	0.00583	-1.1659	10	0.87932	D	0	-11.0731	19.6275	0.95684	0.0:1.0:0.0:0.0	.	247;247	F5H4R0;O60447	.;EVI5_HUMAN	N	247	ENSP00000359356:S247N;ENSP00000440826:S247N;ENSP00000445019:S247N	ENSP00000359356:S247N	S	-	2	0	EVI5	92940317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.654000	0.90174	0.650000	0.86243	AGT		0.308	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		8	34	0	0	0	0	8	34				
ABCA4	24	broad.mit.edu	37	1	94496611	94496611	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:94496611G>A	ENST00000370225.3	-	28	4280	c.4194C>T	c.(4192-4194)ggC>ggT	p.G1398G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1398					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGGTATTCGCCAAAAGGAG	0.512																																						uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(4192-4194)GGC>GGT		ATP-binding cassette, sub-family A member 4							124.0	104.0	111.0					1																	94496611		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496611G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4194C>T	1.37:g.94496611G>A							p.G1398G	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4298	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1398			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.4194C>T	CCDS747.1																																																																																				0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		6	23	0	0	0	0	6	23				
CSF1	1435	broad.mit.edu	37	1	110456910	110456910	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:110456910C>T	ENST00000329608.6	+	2	460	c.69C>T	c.(67-69)gtC>gtT	p.V23V	CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000369801.1_Silent_p.V23V|CSF1_ENST00000420111.2_Silent_p.V23V|CSF1_ENST00000344188.5_Silent_p.V23V	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	23					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTTGTTGGTCTGTCTCCTGG	0.587																																						uc001dyu.2		NA																	0				ovary(1)	1						c.(67-69)GTC>GTT		colony stimulating factor 1 isoform a precursor							174.0	162.0	166.0					1																	110456910		2203	4300	6503	SO:0001819	synonymous_variant	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110456910C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.69C>T	1.37:g.110456910C>T						CSF1_uc001dyt.2_Silent_p.V23V|CSF1_uc001dyv.3_Silent_p.V23V|CSF1_uc001dyw.3_Silent_p.V23V	p.V23V	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	482	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	23					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	c.69C>T	CCDS816.1																																																																																				0.587	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		16	29	0	0	0	0	16	29				
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RP5-1073O3.2_ENST00000429398.1_RNA|RP5-1073O3.2_ENST00000418238.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCCCCGTCCGCGCATCGCG	0.672																																						uc001edq.2		NA																	0				ovary(1)	1						c.(97-99)GCG>GCA		round spermatid basic protein 1							23.0	32.0	29.0					1																	114354936		2198	4293	6491	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354936C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.99G>A	1.37:g.114354936C>T						RSBN1_uc001edr.2_RNA	p.A33A	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	135	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	33					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.99G>A	CCDS862.1																																																																																				0.672	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	53	0	0	0	0	4	53				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	34	0	0	0	0	4	34				
ANXA9	8416	broad.mit.edu	37	1	150967079	150967079	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:150967079G>A	ENST00000368947.4	+	13	1355	c.879G>A	c.(877-879)ctG>ctA	p.L293L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	293					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCAAGTCCTGATTCGCATCC	0.483																																						uc001ewa.2		NA																	0					0						c.(877-879)CTG>CTA		annexin A9							206.0	190.0	196.0					1																	150967079		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150967079G>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.879G>A	1.37:g.150967079G>A							p.L293L	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1349	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		293			Annexin 4.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.879G>A	CCDS975.2																																																																																				0.483	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		12	149	0	0	0	0	12	149				
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	BRINP3_ENST00000534846.1_Missense_Mutation_p.G114D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	216	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTTACTGCAGCCAAGAGGACC	0.378																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(646-648)GGC>GAC		family with sequence similarity 5, member C							135.0	117.0	123.0					1																	190203579		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190203579C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.647G>A	1.37:g.190203579C>T	ENSP00000356432:p.Gly216Asp					FAM5C_uc010pot.1_Missense_Mutation_p.G114D	p.G216D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			5	879	-	Prostate(682;0.198)		216					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.647G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158763	0.78226	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26660	1.98;1.72	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.52071	-0.8624	10	0.87932	D	0	.	17.6929	0.88273	0.0:1.0:0.0:0.0	.	114;216	B7Z260;Q76B58	.;FAM5C_HUMAN	D	216;114	ENSP00000356432:G216D;ENSP00000438022:G114D	ENSP00000356432:G216D	G	-	2	0	FAM5C	188470202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.706000	0.84615	2.775000	0.95449	0.650000	0.86243	GGC		0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		9	51	0	0	0	0	9	51				
KIF21B	23046	broad.mit.edu	37	1	200946364	200946364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:200946364G>A	ENST00000422435.2	-	31	4617	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	KIF21B_ENST00000360529.5_Missense_Mutation_p.A1421V|KIF21B_ENST00000332129.2_Missense_Mutation_p.A1421V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1434V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1434					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1421V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGCGGACGGCATTGCCCGA	0.632																																						uc001gvs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4300-4302)GCC>GTC		kinesin family member 21B							123.0	114.0	117.0					1																	200946364		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200946364G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4301C>T	1.37:g.200946364G>A	ENSP00000411831:p.Ala1434Val					KIF21B_uc001gvr.1_Missense_Mutation_p.A1421V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1434V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1421V	p.A1434V	NM_017596	NP_060066	O75037	KI21B_HUMAN			31	4618	-			1434			WD 3.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4301C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027513	0.35797	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.198864	0.43579	D	0.000543	T	0.08044	0.0201	L	0.44542	1.39	0.29008	N	0.887052	B;B;B;B	0.31459	0.193;0.193;0.324;0.161	B;B;B;B	0.27715	0.082;0.082;0.082;0.049	T	0.07271	-1.0781	10	0.37606	T	0.19	.	18.0342	0.89294	0.0:0.0:1.0:0.0	.	1421;1434;1434;1421	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1421;1421;1434;1434;1434	ENSP00000328494:A1421V;ENSP00000353724:A1421V;ENSP00000433808:A1434V;ENSP00000411831:A1434V	ENSP00000328494:A1421V	A	-	2	0	KIF21B	199212987	0.998000	0.40836	0.965000	0.40720	0.006000	0.05464	5.027000	0.64109	2.249000	0.74217	0.561000	0.74099	GCC		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		4	98	0	0	0	0	4	98				
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hfy.2		NA																	0				ovary(3)	3						c.(5899-5901)TCT>TGT		complement receptor 1 isoform F precursor							84.0	90.0	88.0					1																	207793408		2100	4256	6356	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793408C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7250C>G	1.37:g.207793408C>G	ENSP00000356016:p.Ser2417Cys		OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2170	CR1_uc001hfx.2_Missense_Mutation_p.S2417C	p.S1967C	NM_000573	NP_000564	P17927	CR1_HUMAN			35	6040	+			1967			Sushi 30.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.5900C>G	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.75|18.75	3.691148|3.691148	0.68271|0.68271	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.83	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Sushi/SCR/CCP (1);	.|.	.|.	.|.	.|.	D|D	0.87269|0.87269	0.6135|0.6135	M|M	0.86740|0.86740	2.835|2.835	0.09310|0.09310	N|N	1|1	.|B;D	.|0.89917	.|0.438;1.0	.|P;D	.|0.83275	.|0.524;0.996	T|T	0.78718|0.78718	-0.2095|-0.2095	5|9	.|0.59425	.|D	.|0.04	.|.	13.1685|13.1685	0.59585|0.59585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1967;2417	.|P17927;E9PDY4	.|CR1_HUMAN;.	V|C	590|1967;1967;1967;1967;2417	.|ENSP00000356019:S1967C;ENSP00000356018:S1967C;ENSP00000356020:S1967C;ENSP00000383744:S1967C;ENSP00000356016:S2417C	.|ENSP00000356016:S2417C	L|S	+|+	1|2	0|0	CR1|CR1	205860031|205860031	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.512000|0.512000	0.34134|0.34134	1.087000|1.087000	0.30865|0.30865	2.543000|2.543000	0.85770|0.85770	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.493	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	14	0	0	0	0	4	14				
ADCK3	56997	broad.mit.edu	37	1	227169739	227169739	+	Missense_Mutation	SNP	G	G	A	rs148376283		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:227169739G>A	ENST00000366779.1	+	11	3513	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	ADCK3_ENST00000366778.1_Missense_Mutation_p.V196M|ADCK3_ENST00000366777.3_Missense_Mutation_p.V248M|ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_5'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	248					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGAAGGCCGTGCTGGGTTC	0.652																																						uc001hqm.1		NA																	0					0						c.(742-744)GTG>ATG		chaperone, ABC1 activity of bc1 complex like		G	MET/VAL	0,4406		0,0,2203	47.0	46.0	47.0		742	3.2	0.9	1	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADCK3	NM_020247.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	248/648	227169739	2,13004	2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227169739G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.742G>A	1.37:g.227169739G>A	ENSP00000355741:p.Val248Met					CABC1_uc001hqn.1_Missense_Mutation_p.V248M|CABC1_uc009xeq.1_Missense_Mutation_p.V196M|CABC1_uc010pvq.1_Translation_Start_Site|CABC1_uc010pvr.1_Translation_Start_Site|CABC1_uc001hqo.1_Translation_Start_Site|CABC1_uc009xer.1_5'Flank	p.V248M	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			11	4161	+		Prostate(94;0.0771)	248					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.742G>A	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	9.740	1.164511	0.21538	0.0	2.33E-4	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	T;T;T;T;T	0.74842	-0.74;-0.71;-0.74;-0.88;-0.86	5.1	3.2	0.36748	.	0.062433	0.64402	D	0.000004	T	0.67277	0.2876	L	0.54323	1.7	0.58432	D	0.999997	B	0.19445	0.036	B	0.17433	0.018	T	0.65557	-0.6139	10	0.49607	T	0.09	-37.4575	10.115	0.42585	0.2204:0.0:0.7796:0.0	.	248	Q8NI60	ADCK3_HUMAN	M	248;196;248;173;93;199	ENSP00000355741:V248M;ENSP00000355740:V196M;ENSP00000355739:V248M;ENSP00000355738:V173M;ENSP00000355737:V93M	ENSP00000355737:V93M	V	+	1	0	ADCK3	225236362	0.657000	0.27393	0.866000	0.34008	0.072000	0.16883	0.945000	0.29056	1.155000	0.42497	-0.339000	0.08088	GTG		0.652	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		29	36	0	0	0	0	29	36				
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433																																						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2164-2166)GGG>GGA		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						173.0	160.0	165.0					1																	236180536		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180536C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2166G>A	1.37:g.236180536C>T						NID1_uc009xgd.2_Intron	p.G722G	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2268	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	722			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2166G>A	CCDS1608.1																																																																																				0.433	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		18	93	0	0	0	0	18	93				
CHRM3	1131	broad.mit.edu	37	1	240071198	240071198	+	Nonsense_Mutation	SNP	C	C	A	rs201113785		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240071198C>A	ENST00000255380.4	+	5	1226	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	149	Agonist binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCATTGACTACGTAGCCAGCA	0.473																																						uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(445-447)TAC>TAA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						101.0	97.0	98.0					1																	240071198		2203	4300	6503	SO:0001587	stop_gained	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071198C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.447C>A	1.37:g.240071198C>A	ENSP00000255380:p.Tyr149*						p.Y149*	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1226	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	149			Helical; Name=3; (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	SNP	ENST00000255380.4	37	c.447C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	39	7.442251	0.98286	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.9	-5.55	0.02536	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4742	16.4275	0.83818	0.0:0.5925:0.0:0.4075	.	.	.	.	X	149	.	ENSP00000255380:Y149X	Y	+	3	2	CHRM3	238137821	0.041000	0.20044	0.973000	0.42090	0.976000	0.68499	-0.709000	0.05030	-0.745000	0.04772	-1.133000	0.01973	TAC		0.473	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		27	34	1	0	9.86e-18	1.15e-17	27	34				
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4333-4335)CCC>CCA		formin 2							163.0	152.0	155.0					1																	240492666		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492666C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4335C>A	1.37:g.240492666C>A						FMN2_uc010pye.1_Silent_p.P1449P|FMN2_uc010pyf.1_Silent_p.P91P|FMN2_uc010pyg.1_Silent_p.P41P	p.P1445P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4560	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1445			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4335C>A	CCDS31069.2																																																																																				0.363	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		11	87	1	0	0.000673444	0.000717068	11	87				
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D|UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373																																						uc001ila.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(3622-3624)GAG>GAC		UPF2 regulator of nonsense transcripts homolog							216.0	198.0	204.0					10																	11973704		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11973704C>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3624G>C	10.37:g.11973704C>G	ENSP00000348708:p.Glu1208Asp					UPF2_uc001ilb.2_Missense_Mutation_p.E1208D|UPF2_uc001ilc.2_Missense_Mutation_p.E1208D	p.E1208D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			19	4098	-		Renal(717;0.228)	1208			Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3624G>C	CCDS7086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.109996|3.109996	0.56398|0.56398	.|.	.|.	ENSG00000151461|ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053|ENST00000359268	T;T;T|.	0.63913|.	-0.07;-0.07;-0.07|.	6.08|6.08	-0.863|-0.863	0.10669|0.10669	Up-frameshift suppressor 2 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67767|0.67767	0.2928|0.2928	M|M	0.72576|0.72576	2.205|2.205	0.45354|0.45354	D|D	0.99834|0.99834	B|.	0.25809|.	0.135|.	B|.	0.34418|.	0.182|.	T|T	0.67027|0.67027	-0.5774|-0.5774	10|7	0.56958|0.56958	D|D	0.05|0.05	.|.	10.6164|10.6164	0.45454|0.45454	0.0:0.5722:0.0:0.4278|0.0:0.5722:0.0:0.4278	.|.	1208|.	Q9HAU5|.	RENT2_HUMAN|.	D|Q	1208|113	ENSP00000348708:E1208D;ENSP00000350221:E1208D;ENSP00000380244:E1208D|.	ENSP00000348708:E1208D|ENSP00000352213:E113Q	E|E	-|-	3|1	2|0	UPF2|UPF2	12013710|12013710	0.996000|0.996000	0.38824|0.38824	0.983000|0.983000	0.44433|0.44433	0.987000|0.987000	0.75469|0.75469	0.489000|0.489000	0.22387|0.22387	-0.294000|-0.294000	0.08973|0.08973	-0.736000|-0.736000	0.03550|0.03550	GAG|GAG		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			10	58	0	0	0	0	10	58				
CHST15	51363	broad.mit.edu	37	10	125804104	125804104	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:125804104T>C	ENST00000346248.5	-	3	1520	c.878A>G	c.(877-879)aAg>aGg	p.K293R	CHST15_ENST00000435907.1_Missense_Mutation_p.K293R|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.K293R	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	293					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ACCAAAGCGCTTCCGGGTCCA	0.637																																						uc001lhl.2		NA																	0				ovary(1)	1						c.(877-879)AAG>AGG		B cell RAG associated protein							27.0	29.0	29.0					10																	125804104		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804104T>C	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.878A>G	10.37:g.125804104T>C	ENSP00000333947:p.Lys293Arg					CHST15_uc001lhm.2_Missense_Mutation_p.K293R|CHST15_uc001lhn.2_Missense_Mutation_p.K293R|CHST15_uc010que.1_Missense_Mutation_p.K293R|CHST15_uc001lho.2_Missense_Mutation_p.K293R	p.K293R	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			2	1391	-			293			Lumenal (Potential).		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.878A>G	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212682	0.79240	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.54675	0.56;0.56;0.56	5.65	4.51	0.55191	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.40543	1.245	0.47245	D	0.999365	D;P	0.76494	0.999;0.704	D;B	0.71414	0.973;0.404	T	0.58405	-0.7642	10	0.44086	T	0.13	-25.0992	10.3011	0.43653	0.0:0.0746:0.0:0.9254	.	293;293	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	R	293	ENSP00000333947:K293R;ENSP00000402394:K293R;ENSP00000412477:K293R	ENSP00000333947:K293R	K	-	2	0	CHST15	125794094	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.707000	0.84623	0.962000	0.38057	0.533000	0.62120	AAG		0.637	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		7	12	0	0	0	0	7	12				
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677																																						uc001lxa.1		NA																	0					0						c.(16-18)GAG>AAG		pleckstrin homology-like domain family A member							12.0	14.0	13.0					11																	2950579		2196	4281	6477	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950579C>T	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.16G>A	11.37:g.2950579C>T	ENSP00000319231:p.Glu6Lys						p.E6K	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	72	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	6					O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.16G>A	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804463	0.16467	.	.	ENSG00000181649	ENST00000314222	T	0.39229	1.09	3.51	3.51	0.40186	Pleckstrin homology-type (1);	0.331812	0.27016	U	0.021360	T	0.21509	0.0518	L	0.34521	1.04	0.30131	N	0.804803	P	0.42692	0.787	B	0.32583	0.148	T	0.12967	-1.0527	10	0.07175	T	0.84	-12.9824	8.4901	0.33095	0.0:0.8887:0.0:0.1113	.	6	Q53GA4	PHLA2_HUMAN	K	6	ENSP00000319231:E6K	ENSP00000319231:E6K	E	-	1	0	PHLDA2	2907155	.	.	0.685000	0.30070	0.599000	0.36880	.	.	1.660000	0.50760	0.313000	0.20887	GAG		0.677	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		10	8	0	0	0	0	10	8				
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562																																						uc001mdg.2		NA																	0					0						c.(1225-1227)ATG>ACG		hemopexin precursor							159.0	142.0	148.0					11																	6452604		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452604A>G	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1226T>C	11.37:g.6452604A>G	ENSP00000265983:p.Met409Thr					HPX_uc001mdf.2_Missense_Mutation_p.M155T|HPX_uc009yfc.2_RNA	p.M409T	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1287	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	409					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1226T>C	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.190319	0.01607	.	.	ENSG00000110169	ENST00000265983	T	0.06849	3.25	4.25	-0.862	0.10673	Hemopexin/matrixin (2);	2.809100	0.00633	N	0.000483	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37056	-0.9722	10	0.21014	T	0.42	6.2152	7.5366	0.27714	0.5434:0.0:0.4566:0.0	.	409	P02790	HEMO_HUMAN	T	409	ENSP00000265983:M409T	ENSP00000265983:M409T	M	-	2	0	HPX	6409180	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-0.090000	0.11163	-0.144000	0.11314	0.459000	0.35465	ATG		0.562	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		15	34	0	0	0	0	15	34				
TUB	7275	broad.mit.edu	37	11	8123160	8123160	+	Silent	SNP	C	C	T	rs199733844		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:8123160C>T	ENST00000299506.2	+	12	1664	c.1515C>T	c.(1513-1515)tgC>tgT	p.C505C	TUB_ENST00000305253.4_Silent_p.C560C|TUB_ENST00000534099.1_Silent_p.C511C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	505					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTGGCGTGCGAGTAGAGGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18374	0.0		0.001	False		,,,				2504	0.0					uc001mga.2		NA																	0				ovary(1)	1						c.(1513-1515)TGC>TGT		tubby isoform b		C	,	1,4401	2.1+/-5.4	0,1,2200	98.0	71.0	80.0		1680,1515	-6.7	0.8	11		80	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	TUB	NM_003320.4,NM_177972.2	,	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	,	560/562,505/507	8123160	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8123160C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1515C>T	11.37:g.8123160C>T						TUB_uc010rbk.1_Silent_p.C511C|TUB_uc001mfy.2_Silent_p.C560C	p.C505C	NM_177972	NP_813977	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	12	1664	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	505					D3DQU4|O00293|Q6B007	Silent	SNP	ENST00000299506.2	37	c.1515C>T	CCDS7787.1																																																																																				0.597	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		15	8	0	0	0	0	15	8				
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTTTTCATTGTAAGTGGTCTT	0.343																																						uc001npj.2		NA																	0				breast(1)	1						c.e4+2		membrane-spanning 4-domains, subfamily A, member							173.0	161.0	165.0					11																	60170536		2203	4300	6503	SO:0001630	splice_region_variant	84689					integral to membrane	receptor activity	g.chr11:60170536T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.468+2T>C	11.37:g.60170536T>C						MS4A14_uc001npi.2_Splice_Site_p.I44_splice|MS4A14_uc001npn.2_Splice_Site|MS4A14_uc001npk.2_Splice_Site_p.I139_splice|MS4A14_uc001npl.2_Splice_Site|MS4A14_uc001npm.2_Splice_Site	p.I156_splice	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	1033	+								E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Splice_Site	SNP	ENST00000300187.6	37	c.468_splice	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.474|9.474	1.096363|1.096363	0.20552|0.20552	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783;ENST00000395001|ENST00000534688	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.8518|10.8518	0.46775|0.46775	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|Q	-1|116	.|.	.|.	.|X	+|+	.|1	.|0	MS4A14|MS4A14	59927112|59927112	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.081000|0.081000	0.17604|0.17604	3.206000|3.206000	0.51098|0.51098	2.109000|2.109000	0.64355|0.64355	0.528000|0.528000	0.53228|0.53228	.|TAA		0.343	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		Intron	21	57	0	0	0	0	21	57				
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H|TUT1_ENST00000308436.7_5'Flank|MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(1780-1782)CAG>CAC		metastasis-associated protein 2							79.0	71.0	74.0					11																	62361790		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361790C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1782G>C	11.37:g.62361790C>G	ENSP00000278823:p.Gln594His					TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.Q421H	p.Q594H	NM_004739	NP_004730	O94776	MTA2_HUMAN			17	2163	-			594					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1782G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535676	0.64972	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.50548	1.35;0.74;0.74	5.79	3.94	0.45596	.	0.055071	0.85682	D	0.000000	T	0.43366	0.1244	L	0.60455	1.87	0.58432	D	0.999999	P	0.50943	0.94	B	0.41571	0.36	T	0.37407	-0.9707	10	0.48119	T	0.1	-23.9764	10.7909	0.46432	0.0:0.8465:0.0:0.1535	.	594	O94776	MTA2_HUMAN	H	594;421;421	ENSP00000278823:Q594H;ENSP00000431346:Q421H;ENSP00000431797:Q421H	ENSP00000278823:Q594H	Q	-	3	2	MTA2	62118366	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.757000	0.47557	0.806000	0.34183	-0.812000	0.03155	CAG		0.567	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		8	49	0	0	0	0	8	49				
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A	rs200017820		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:67172899G>A	ENST00000542590.1	+	3	296	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000312390.5_Silent_p.P94P			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.0		0.001	False		,,,				2504	0.0					uc001ola.2		NA																	0					0						c.(280-282)CCG>CCA		TBC1 domain family, member 10C		G		0,4400		0,0,2200	49.0	45.0	47.0		282	-3.0	0.7	11		47	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	TBC1D10C	NM_198517.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		94/447	67172899	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67172899G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.282G>A	11.37:g.67172899G>A						PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_Silent_p.P94P|TBC1D10C_uc001olb.2_RNA	p.P94P	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	311	+			94			Rab-GAP TBC.		G3V1D6	Silent	SNP	ENST00000542590.1	37	c.282G>A	CCDS8162.1																																																																																				0.657	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		13	38	0	0	0	0	13	38				
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577																																						uc001oos.2		NA																	0					0						c.e3-2		two pore segment channel 2							153.0	90.0	111.0					11																	68822187		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822187A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.175-1A>G	11.37:g.68822187A>G						TPCN2_uc009ysk.1_Splice_Site|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Splice_Site_p.Y59_splice	p.Y59_splice	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	291	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37	c.175_splice	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802832	0.31869	.	.	ENSG00000162341	ENST00000294309;ENST00000542467	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3241	0.60449	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68578763	1.000000	0.71417	0.952000	0.39060	0.260000	0.26232	7.449000	0.80643	1.708000	0.51301	0.379000	0.24179	.		0.577	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	6	25	0	0	0	0	6	25				
NFRKB	4798	broad.mit.edu	37	11	129748208	129748208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:129748208G>A	ENST00000446488.3	-	14	1610	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W|NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	503					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCACACCCGAGGGACAGGT	0.433																																						uc001qfi.2		NA																	0				ovary(3)	3						c.(1507-1509)CGG>TGG		nuclear factor related to kappaB binding protein							108.0	107.0	107.0					11																	129748208		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129748208G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1507C>T	11.37:g.129748208G>A	ENSP00000400476:p.Arg503Trp					NFRKB_uc001qfg.2_Missense_Mutation_p.R528W|NFRKB_uc001qfh.2_Missense_Mutation_p.R526W|NFRKB_uc010sbw.1_Silent_p.L513L	p.R503W	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	15	1708	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	503					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1507C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324010	0.60634	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.65	5.65	0.86999	.	0.107177	0.64402	D	0.000009	T	0.77191	0.4094	M	0.69823	2.125	0.46631	D	0.999135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.948;0.984;0.977	T	0.79196	-0.1903	9	0.87932	D	0	.	13.8229	0.63333	0.0:0.0:0.8378:0.1622	.	503;503;528	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	W	503;503;528;503	.	ENSP00000303800:R503W	R	-	1	2	NFRKB	129253418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.592000	0.53993	2.652000	0.90054	0.650000	0.86243	CGG		0.433	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		19	20	0	0	0	0	19	20				
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448																																						uc001rnq.3		NA																	0				pancreas(1)	1						c.(1534-1536)GAG>GTG		pseudouridylate synthase 7 homolog (S.							170.0	137.0	148.0					12																	44130374		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44130374T>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1535A>T	12.37:g.44130374T>A	ENSP00000415899:p.Glu512Val					PUS7L_uc001rnr.3_Missense_Mutation_p.E512V|PUS7L_uc001rns.3_Missense_Mutation_p.E512V|PUS7L_uc009zkb.2_Missense_Mutation_p.E199V	p.E512V	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	7	2024	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	512			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1535A>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410023	0.62399	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.02	5.02	0.67125	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.450603	0.25701	N	0.028875	T	0.43942	0.1270	M	0.64080	1.96	0.33305	D	0.565335	P	0.36199	0.543	B	0.37198	0.243	T	0.60742	-0.7203	10	0.44086	T	0.13	-20.5551	15.4454	0.75225	0.0:0.0:0.0:1.0	.	512	Q9H0K6	PUS7L_HUMAN	V	512;512;512;199	ENSP00000415899:E512V;ENSP00000343081:E512V;ENSP00000447706:E512V;ENSP00000398497:E199V	ENSP00000343081:E512V	E	-	2	0	PUS7L	42416641	0.691000	0.27709	0.976000	0.42696	0.963000	0.63663	2.920000	0.48844	2.198000	0.70561	0.482000	0.46254	GAG		0.448	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		12	50	0	0	0	0	12	50				
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323																																						uc001rnq.3		NA																	0				pancreas(1)	1						c.(199-201)TTT>TTC		pseudouridylate synthase 7 homolog (S.							116.0	112.0	113.0					12																	44148848		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148848A>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.201T>C	12.37:g.44148848A>G						PUS7L_uc001rnr.3_Silent_p.F67F|PUS7L_uc001rns.3_Silent_p.F67F|PUS7L_uc009zkb.2_Intron	p.F67F	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	690	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	67					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.201T>C	CCDS8743.1																																																																																				0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		4	52	0	0	0	0	4	52				
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.2_ENST00000435621.3_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403																																						uc001sbh.3		NA																	0				breast(1)|kidney(1)	2						c.(148-150)GAT>CAT		eukaryotic translation initiation factor 4B							148.0	146.0	147.0					12																	53410391		1866	4098	5964	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53410391G>C	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.148G>C	12.37:g.53410391G>C	ENSP00000262056:p.Asp50His					EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.D50H|EIF4B_uc010snv.1_Missense_Mutation_p.D50H|EIF4B_uc001sbi.2_5'UTR	p.D50H	NM_001417	NP_001408	P23588	IF4B_HUMAN			2	354	+			50					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.148G>C	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624182	0.28889	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	4.65	3.76	0.43208	.	0.102956	0.64402	D	0.000005	D	0.95909	0.8668	M	0.77616	2.38	0.52501	D	0.99995	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.57468	0.821;0.667;0.667	D	0.95703	0.8751	10	0.62326	D	0.03	.	12.2877	0.54800	0.0857:0.0:0.9143:0.0	.	50;50;50	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	H	50	ENSP00000262056:D50H;ENSP00000388806:D50H;ENSP00000412530:D50H;ENSP00000449746:D50H;ENSP00000450324:D50H	ENSP00000262056:D50H	D	+	1	0	EIF4B	51696658	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	9.512000	0.98008	1.266000	0.44231	-0.258000	0.10820	GAT		0.403	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		11	52	0	0	0	0	11	52				
VPS36	51028	broad.mit.edu	37	13	53007799	53007799	+	Missense_Mutation	SNP	C	C	T	rs35567300		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr13:53007799C>T	ENST00000378060.4	-	6	553	c.526G>A	c.(526-528)Gag>Aag	p.E176K	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	176					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ACAGTTACCTCAGAAATGTTT	0.343																																						uc001vgs.2		NA																	0				skin(1)	1						c.(526-528)GAG>AAG		vacuolar protein sorting 36							149.0	171.0	163.0					13																	53007799		2201	4300	6501	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53007799C>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.526G>A	13.37:g.53007799C>T	ENSP00000367299:p.Glu176Lys					VPS36_uc001vgq.2_Missense_Mutation_p.E118K	p.E176K	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	6	560	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	176			Potential.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.526G>A	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.93	2.979553	0.53827	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	L	0.45470	1.425	0.80722	D	1	B	0.18863	0.031	B	0.18871	0.023	T	0.52909	-0.8512	9	0.09590	T	0.72	-7.7966	19.1901	0.93663	0.0:1.0:0.0:0.0	.	176	Q86VN1	VPS36_HUMAN	K	176	.	ENSP00000367299:E176K	E	-	1	0	VPS36	51905800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAG		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			3	41	0	0	0	0	3	41				
CMTM5	116173	broad.mit.edu	37	14	23847950	23847950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr14:23847950C>T	ENST00000339180.4	+	3	568	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	CMTM5_ENST00000359320.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000555731.1_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	118	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GGTCCAGCCCCAGCCCTGGCC	0.627																																						uc010akm.2		NA																	0					0						c.(352-354)CAG>TAG		chemokine-like factor superfamily 5 isoform a							31.0	33.0	33.0					14																	23847950		876	1991	2867	SO:0001587	stop_gained	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23847950C>T	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.352C>T	14.37:g.23847950C>T	ENSP00000344819:p.Gln118*					CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	p.Q118*	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	3	796	+	all_cancers(95;2e-05)		118			MARVEL.		E9PH91|Q5PY48	Nonsense_Mutation	SNP	ENST00000339180.4	37	c.352C>T		.	.	.	.	.	.	.	.	.	.	C	18.16	3.562819	0.65538	.	.	ENSG00000166091	ENST00000339180	.	.	.	4.34	-0.707	0.11245	.	699.407000	0.00520	N	0.000199	.	.	.	.	.	.	0.20703	N	0.999869	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.25	5.9703	0.19349	0.0:0.5275:0.1327:0.3397	.	.	.	.	X	118	.	ENSP00000344819:Q118X	Q	+	1	0	CMTM5	22917790	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.463000	0.06696	-0.366000	0.08064	-1.134000	0.01955	CAG		0.627	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			5	18	0	0	0	0	5	18				
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGGGCTGGCAGCCTGTGGCGT	0.592																																						uc001zrd.1		NA																	0				central_nervous_system(1)	1						c.(805-807)GGC>GGG		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						81.0	76.0	78.0					15																	43545012		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545012G>C	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.807C>G	15.37:g.43545012G>C						TGM5_uc001zre.1_Silent_p.G187G	p.G269G	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	815	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	269					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.807C>G	CCDS32212.1																																																																																				0.592	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	51	0	0	0	0	11	51				
CGNL1	84952	broad.mit.edu	37	15	57730854	57730854	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:57730854C>T	ENST00000281282.5	+	2	735	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	219	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTCGTTTATGCAGCTCCGTGG	0.527																																						uc002aeg.2		NA																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(655-657)TGC>TGT		cingulin-like 1							122.0	122.0	122.0					15																	57730854		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57730854C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.657C>T	15.37:g.57730854C>T						CGNL1_uc010bfw.2_Silent_p.C219C	p.C219C	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	733	+			219			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.657C>T	CCDS10161.1																																																																																				0.527	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		18	128	0	0	0	0	18	128				
FAM63B	54629	broad.mit.edu	37	15	59064131	59064131	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:59064131C>T	ENST00000559228.1	+	1	619	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM63B_ENST00000450403.2_Silent_p.F179F|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	179										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTCGTTCTCTAACCTGC	0.647																																						uc002afj.2		NA																	0				central_nervous_system(1)	1						c.(535-537)TTC>TTT		hypothetical protein LOC54629 isoform a							26.0	27.0	27.0					15																	59064131		1887	4109	5996	SO:0001819	synonymous_variant	54629							g.chr15:59064131C>T	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.537C>T	15.37:g.59064131C>T						FAM63B_uc002afi.2_Silent_p.F179F|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.F179F	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			1	739	+			179					B2RTT8|Q9ULQ6	Silent	SNP	ENST00000559228.1	37	c.537C>T	CCDS42046.1																																																																																				0.647	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		11	19	0	0	0	0	11	19				
CORO2B	10391	broad.mit.edu	37	15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A	rs543637910	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:69003203G>A	ENST00000566799.1	+	4	495	c.466G>A	c.(466-468)Gct>Act	p.A156T	CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T|CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000543950.1_Missense_Mutation_p.A151T			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622																																						uc002arj.3		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(466-468)GCT>ACT		coronin, actin binding protein, 2B							38.0	37.0	38.0					15																	69003203		2200	4297	6497	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69003203G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.466G>A	15.37:g.69003203G>A	ENSP00000454783:p.Ala156Thr					CORO2B_uc010bic.2_Missense_Mutation_p.A151T|CORO2B_uc002ark.2_5'Flank	p.A156T	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			4	495	+			156			WD 2.		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.466G>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375038	0.82682	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.64618	-0.11;-0.11	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000019	T	0.63827	0.2544	M	0.75777	2.31	0.80722	D	1	P	0.42735	0.788	B	0.36766	0.232	T	0.70092	-0.4967	10	0.54805	T	0.06	-13.9823	18.5079	0.90904	0.0:0.0:1.0:0.0	.	156	Q9UQ03	COR2B_HUMAN	T	156;151;151	ENSP00000446250:A151T;ENSP00000443819:A151T	ENSP00000261861:A156T	A	+	1	0	CORO2B	66790257	1.000000	0.71417	0.692000	0.30179	0.870000	0.49936	9.366000	0.97143	2.608000	0.88229	0.561000	0.74099	GCT		0.622	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		3	5	0	0	0	0	3	5				
ISLR2	57611	broad.mit.edu	37	15	74426761	74426761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74426761C>T	ENST00000361742.3	+	4	2435	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C|ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	556					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTACTGGTTCCGCGGCCTGCG	0.682																																						uc002axd.2		NA																	0					0						c.(1666-1668)CGC>TGC		immunoglobulin superfamily containing							12.0	14.0	13.0					15																	74426761		2165	4232	6397	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426761C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1666C>T	15.37:g.74426761C>T	ENSP00000355402:p.Arg556Cys					ISLR2_uc002axe.2_Missense_Mutation_p.R556C|ISLR2_uc010bjg.2_Missense_Mutation_p.R556C|ISLR2_uc010bjf.2_Missense_Mutation_p.R556C	p.R556C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	2435	+			556			Extracellular (Potential).		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1666C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919053	0.73098	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	4.73	4.73	0.59995	.	0.210916	0.42548	D	0.000692	T	0.06462	0.0166	N	0.19112	0.55	0.58432	D	0.999999	D	0.69078	0.997	P	0.47981	0.563	T	0.37526	-0.9702	10	0.87932	D	0	.	16.4299	0.83839	0.0:1.0:0.0:0.0	.	556	Q6UXK2	ISLR2_HUMAN	C	556	ENSP00000403244:R556C;ENSP00000355402:R556C;ENSP00000411443:R556C;ENSP00000411834:R556C;ENSP00000408872:R556C	ENSP00000355402:R556C	R	+	1	0	ISLR2	72213814	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	5.730000	0.68546	2.166000	0.68216	0.313000	0.20887	CGC		0.682	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		4	9	0	0	0	0	4	9				
UBL7	84993	broad.mit.edu	37	15	74740855	74740855	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74740855C>T	ENST00000567435.1	-	10	1432	c.969G>A	c.(967-969)caG>caA	p.Q323Q	UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q|UBL7_ENST00000565335.1_Silent_p.Q323Q|UBL7_ENST00000395081.2_Silent_p.Q323Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7	323										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAAGGGCATGCTGTAGGGCTT	0.542																																						uc002axw.1		NA																	0				ovary(1)	1						c.(967-969)CAG>CAA		ubiquitin-like 7							227.0	207.0	214.0					15																	74740855		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74740855C>T	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.969G>A	15.37:g.74740855C>T						UBL7_uc002axx.1_Silent_p.Q363Q|UBL7_uc010bjr.1_Silent_p.Q214Q|UBL7_uc002axy.1_Silent_p.Q323Q|UBL7_uc002axz.1_Silent_p.Q323Q	p.Q323Q	NM_032907	NP_116296	Q96S82	UBL7_HUMAN			10	1131	-			323					D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.969G>A	CCDS10263.1																																																																																				0.542	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		23	106	0	0	0	0	23	106				
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A	rs575553075		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(6619-6621)CCC>CCT		polycystin 1 isoform 1 precursor							11.0	12.0	12.0					16																	2158547		2150	4234	6384	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158547G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6621C>T	16.37:g.2158547G>A						PKD1_uc002cot.1_Silent_p.P2207P	p.P2207P	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6830	-			2207			Extracellular (Potential).|REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.6621C>T	CCDS32369.1																																																																																				0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	11	0	0	0	0	4	11				
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612																																						uc002dui.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1114-1116)GAG>GGG		major vault protein							34.0	27.0	30.0					16																	29851704		2195	4300	6495	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29851704A>G	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1115A>G	16.37:g.29851704A>G	ENSP00000349977:p.Glu372Gly					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E372G|MVP_uc010vea.1_5'UTR	p.E372G	NM_005115	NP_005106	Q14764	MVP_HUMAN			8	1199	+			372			MVP 7.		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1115A>G	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	a	19.14	3.769253	0.69992	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.34859	1.34;1.34	5.37	5.37	0.77165	.	0.098023	0.64402	D	0.000002	T	0.43875	0.1267	M	0.86178	2.8	0.80722	D	1	P	0.44986	0.847	B	0.39185	0.293	T	0.54990	-0.8210	10	0.56958	D	0.05	-11.2743	13.33	0.60480	1.0:0.0:0.0:0.0	.	372	Q14764	MVP_HUMAN	G	372	ENSP00000349977:E372G;ENSP00000378760:E372G	ENSP00000349977:E372G	E	+	2	0	MVP	29759205	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.414000	0.59802	2.048000	0.60808	0.456000	0.33151	GAG		0.612	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		2	8	0	0	0	0	2	8				
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(685-687)CGC>TGC		zinc finger protein 423							65.0	49.0	55.0					16																	49672378		2198	4298	6496	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672378G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.685C>T	16.37:g.49672378G>A	ENSP00000455426:p.Arg229Cys					ZNF423_uc010vgn.1_Missense_Mutation_p.R112C	p.R229C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	983	-		all_cancers(37;0.0155)	229			C2H2-type 5.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.685C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089046	0.55968	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.19806	2.12;2.12	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	M	0.72576	2.205	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.43114	-0.9411	9	.	.	.	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	229	Q2M1K9	ZN423_HUMAN	C	229;112	ENSP00000262383:R229C;ENSP00000442321:R112C	.	R	-	1	0	ZNF423	48229879	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.497000	0.73674	2.331000	0.79229	0.561000	0.74099	CGC		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	46	0	0	0	0	6	46				
ZNF516	9658	broad.mit.edu	37	18	74154962	74154962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr18:74154962G>A	ENST00000443185.2	-	3	366	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCTGGTGGGGCTGGGGCCT	0.692																																						uc010dqx.1		NA																	0				ovary(1)	1						c.(49-51)CCC>TCC		zinc finger protein 516							17.0	21.0	20.0					18																	74154962		1996	4158	6154	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154962G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.49C>T	18.37:g.74154962G>A	ENSP00000394757:p.Pro17Ser					ZNF516_uc002lme.2_RNA	p.P17S	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	284	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	17						Missense_Mutation	SNP	ENST00000443185.2	37	c.49C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.985534	0.74589	.	.	ENSG00000101493	ENST00000443185;ENST00000532857	T;T	0.11063	2.81;3.16	4.3	4.3	0.51218	.	0.095548	0.43919	D	0.000509	T	0.20659	0.0497	.	.	.	0.47276	D	0.999371	D	0.69078	0.997	P	0.61874	0.895	T	0.04678	-1.0934	9	0.11794	T	0.64	-13.6921	15.3131	0.74053	0.0:0.0:1.0:0.0	.	17	Q92618	ZN516_HUMAN	S	17	ENSP00000394757:P17S;ENSP00000446211:P17S	ENSP00000394757:P17S	P	-	1	0	ZNF516	72283950	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.885000	0.69736	2.106000	0.64143	0.561000	0.74099	CCC		0.692	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		7	4	0	0	0	0	7	4				
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632																																						uc002msc.1		NA																	0					0						c.(67-69)GCC>ACC		calponin 1, basic, smooth muscle							33.0	28.0	30.0					19																	11651894		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11651894G>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.67G>A	19.37:g.11651894G>A	ENSP00000252456:p.Ala23Thr					CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	p.A23T	NM_001299	NP_001290	P51911	CNN1_HUMAN			2	231	+			23					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.67G>A	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815271	0.70912	.	.	ENSG00000130176	ENST00000252456;ENST00000544952	T;T	0.60424	0.19;0.19	5.1	5.1	0.69264	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	M	0.85945	2.785	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.61758	-0.6997	10	0.23302	T	0.38	-40.5584	17.2865	0.87143	0.0:0.0:1.0:0.0	.	23	P51911	CNN1_HUMAN	T	23;3	ENSP00000252456:A23T;ENSP00000437470:A3T	ENSP00000252456:A23T	A	+	1	0	CNN1	11512894	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.661000	0.98601	2.378000	0.81104	0.549000	0.68633	GCC		0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		3	14	0	0	0	0	3	14				
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTTTGCCTCCTCCCGAAGG	0.627																																						uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(238-240)TCC>TTC		microtubule associated serine/threonine kinase							69.0	72.0	71.0					19																	12951871		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12951871C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.239C>T	19.37:g.12951871C>T	ENSP00000251472:p.Ser80Phe					MAST1_uc002mvk.2_Missense_Mutation_p.S76F|MAST1_uc002mvl.2_Missense_Mutation_p.S80F	p.S80F	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			3	367	+			80						Missense_Mutation	SNP	ENST00000251472.4	37	c.239C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089341	0.94149	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.30448	1.53	5.97	5.97	0.96955	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.142017	0.47455	D	0.000222	T	0.48409	0.1498	L	0.40543	1.245	0.58432	D	0.999996	D;D;P	0.69078	0.997;0.976;0.935	D;P;P	0.71656	0.974;0.905;0.847	T	0.37009	-0.9724	10	0.66056	D	0.02	-34.5646	17.9218	0.88969	0.0:1.0:0.0:0.0	.	80;80;80	Q9Y2H9;B4DMN4;F5H2S9	MAST1_HUMAN;.;.	F	80	ENSP00000251472:S80F	ENSP00000251472:S80F	S	+	2	0	MAST1	12812871	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.888000	0.75622	2.837000	0.97791	0.655000	0.94253	TCC		0.627	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	38	0	0	0	0	4	38				
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000344373.4_Missense_Mutation_p.A322E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000599900.1_Missense_Mutation_p.A159E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582																																						uc002mzi.3		NA																	0				ovary(5)|skin(1)	6						c.(1120-1122)GCG>GAG		egf-like module-containing mucin-like receptor							79.0	67.0	71.0					19																	14752358		2203	4299	6502	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14752358G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1121C>A	19.37:g.14752358G>T	ENSP00000253673:p.Ala374Glu					EMR3_uc010dzp.2_Missense_Mutation_p.A322E|EMR3_uc010xnv.1_Missense_Mutation_p.A248E	p.A374E	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			10	1269	-			374			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1121C>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221922	0.58560	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.38401	1.14;1.14;1.14	3.68	3.68	0.42216	GPCR, family 2-like (1);	.	.	.	.	T	0.68421	0.2999	M	0.94101	3.495	0.22050	N	0.999397	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62253	-0.6893	9	0.87932	D	0	.	12.9483	0.58386	0.0:0.0:1.0:0.0	.	248;322;374	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	E	248;374;322	ENSP00000396208:A248E;ENSP00000253673:A374E;ENSP00000340758:A322E	ENSP00000253673:A374E	A	-	2	0	EMR3	14613358	0.384000	0.25164	0.969000	0.41365	0.759000	0.43091	2.649000	0.46656	1.895000	0.54865	0.561000	0.74099	GCG		0.582	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		8	37	1	0	2.18e-05	2.41e-05	8	37				
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:17163638C>T	ENST00000253669.5	-	10	1116	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q|HAUS8_ENST00000593360.1_Missense_Mutation_p.R248Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					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)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nfe.2		NA																	0					0						c.(925-927)CGA>CAA		sarcoma antigen NY-SAR-48 isoform a							164.0	139.0	147.0					19																	17163638		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17163638C>T	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.926G>A	19.37:g.17163638C>T	ENSP00000253669:p.Arg309Gln		OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	715	HAUS8_uc002nff.2_Missense_Mutation_p.R308Q|HAUS8_uc002nfg.1_Missense_Mutation_p.R248Q|HAUS8_uc002nfh.1_Missense_Mutation_p.R309Q	p.R309Q	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			10	1037	-			309					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.926G>A	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698889	0.15106	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.76186	-1.0;-1.0	4.36	-3.18	0.05186	.	1.373420	0.04743	N	0.423157	T	0.57533	0.2060	L	0.31926	0.97	0.28254	N	0.925111	B;B;B	0.24483	0.038;0.104;0.038	B;B;B	0.13407	0.009;0.009;0.009	T	0.32719	-0.9896	10	0.18710	T	0.47	.	5.2576	0.15555	0.1606:0.1828:0.0:0.6566	.	249;308;309	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	Q	309;308	ENSP00000253669:R309Q;ENSP00000395298:R308Q	ENSP00000253669:R309Q	R	-	2	0	HAUS8	17024638	0.111000	0.22076	0.891000	0.34965	0.045000	0.14185	-0.896000	0.04114	-0.730000	0.04869	-0.521000	0.04368	CGA		0.527	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		14	80	0	0	0	0	14	80				
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:45555410G>C	ENST00000221455.3	+	3	279	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000544944.2_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562																																						uc002pak.2		NA																	0					0						c.(181-183)GAG>CAG		splicing factor, arginine/serine-rich 16							77.0	70.0	72.0					19																	45555410		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45555410G>C	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.181G>C	19.37:g.45555410G>C	ENSP00000221455:p.Glu61Gln					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Intron|SFRS16_uc002pam.2_Missense_Mutation_p.E61Q|SFRS16_uc002pan.1_RNA	p.E61Q	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	3	279	+		Ovarian(192;0.0728)|all_neural(266;0.112)	61					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.181G>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702753	0.88924	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000544944	T;T;T	0.27890	1.64;1.64;1.64	5.03	5.03	0.67393	Splicing factor, suppressor of white apricot (1);	0.000000	0.36628	U	0.002499	T	0.48409	0.1498	L	0.46741	1.465	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.73708	0.886;0.981	T	0.38243	-0.9670	10	0.49607	T	0.09	-26.5213	15.9207	0.79570	0.0:0.0:1.0:0.0	.	61;61	F5H0Q6;Q8N2M8	.;CLASR_HUMAN	Q	61	ENSP00000221455:E61Q;ENSP00000375814:E61Q;ENSP00000438702:E61Q	ENSP00000221455:E61Q	E	+	1	0	CLASRP	50247250	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.713000	0.91408	2.620000	0.88729	0.655000	0.94253	GAG		0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		4	49	0	0	0	0	4	49				
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NA																	0				ovary(2)	2						c.(148-150)AAC>AAT		G protein-coupled receptor 4							87.0	70.0	76.0					19																	46094975		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094975G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.150C>T	19.37:g.46094975G>A						OPA3_uc010xxk.1_Intron	p.N50N	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1095	-			50			Cytoplasmic (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.150C>T	CCDS12669.1																																																																																				0.617	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		18	46	0	0	0	0	18	46				
LILRA1	11024	broad.mit.edu	37	19	55106360	55106360	+	Missense_Mutation	SNP	G	G	A	rs201715627	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:55106360G>A	ENST00000251372.3	+	4	483	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Missense_Mutation_p.G101S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607													g|||	34	0.00678914	0.0	0.0	5008	,	,		18562	0.002		0.0	False		,,,				2504	0.0327					uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(301-303)GGT>AGT		leukocyte immunoglobulin-like receptor,							85.0	83.0	83.0					19																	55106360		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106360G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.301G>A	19.37:g.55106360G>A	ENSP00000251372:p.Gly101Ser					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.G101S	p.G101S	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	483	+			101			Ig-like C2-type 1.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.301G>A	CCDS12901.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.184	0.794451	0.16327	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00664	5.92;5.92	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.473480	0.00166	N	0.000000	T	0.00784	0.0026	N	0.04355	-0.22	0.09310	N	1	D;B	0.59767	0.986;0.093	P;B	0.54210	0.745;0.083	T	0.33111	-0.9881	10	0.38643	T	0.18	.	2.1081	0.03696	0.3495:0.0:0.1803:0.4702	.	101;101	O75019-2;O75019	.;LIRA1_HUMAN	S	101	ENSP00000251372:G101S;ENSP00000413715:G101S	ENSP00000251372:G101S	G	+	1	0	LILRA1	59798172	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.095000	0.00044	-0.979000	0.03529	-1.210000	0.01631	GGT		0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		11	52	0	0	0	0	11	52				
TTC27	55622	broad.mit.edu	37	2	33012122	33012122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:33012122A>G	ENST00000317907.4	+	16	2135	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	635										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGGAAAACTACATCCTCACC	0.393																																						uc002rom.2		NA																	0				central_nervous_system(1)	1						c.(1903-1905)TAC>TGC		tetratricopeptide repeat domain 27							96.0	93.0	94.0					2																	33012122		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33012122A>G	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1904A>G	2.37:g.33012122A>G	ENSP00000313953:p.Tyr635Cys					TTC27_uc010ymx.1_Missense_Mutation_p.Y585C|TTC27_uc002ron.2_RNA	p.Y635C	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			16	2135	+			635			TPR 6.|HAT 2.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1904A>G	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374262	0.61735	.	.	ENSG00000018699	ENST00000317907	T	0.38240	1.15	4.84	4.84	0.62591	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.176037	0.50627	D	0.000102	T	0.61261	0.2333	M	0.80422	2.495	0.58432	D	0.999995	D	0.89917	1.0	D	0.71414	0.973	T	0.67381	-0.5685	10	0.66056	D	0.02	-8.0425	14.7447	0.69483	1.0:0.0:0.0:0.0	.	635	Q6P3X3	TTC27_HUMAN	C	635	ENSP00000313953:Y635C	ENSP00000313953:Y635C	Y	+	2	0	TTC27	32865626	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.795000	0.69074	1.954000	0.56735	0.482000	0.46254	TAC		0.393	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		11	50	0	0	0	0	11	50				
NRXN1	9378	broad.mit.edu	37	2	50280443	50280443	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:50280443C>T	ENST00000406316.2	-	20	5480	c.4004G>A	c.(4003-4005)aGa>aAa	p.R1335K	NRXN1_ENST00000406859.3_Missense_Mutation_p.R1335K|NRXN1_ENST00000401710.1_Missense_Mutation_p.R353K|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1365K|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1357K|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1357K|NRXN1_ENST00000342183.5_Missense_Mutation_p.R300K|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1405K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1335					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGCTTTCCTCTTCTGGCTGT	0.453																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(898-900)AGA>AAA		neurexin 1 isoform beta precursor							115.0	122.0	120.0					2																	50280443		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50280443C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4004G>A	2.37:g.50280443C>T	ENSP00000384311:p.Arg1335Lys					NRXN1_uc002rxb.3_Missense_Mutation_p.R1037K|NRXN1_uc010fbq.2_Missense_Mutation_p.R1405K|NRXN1_uc002rxe.3_Missense_Mutation_p.R1335K	p.R300K	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1706	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	300			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.899G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022395	0.35701	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.68624	1.1;2.34;0.37;0.32;-0.34;-0.24;0.05;0.19	5.5	5.5	0.81552	.	0.104306	0.31450	U	0.007624	T	0.43656	0.1257	N	0.03983	-0.305	0.28946	N	0.890663	B;B;B;B	0.19331	0.035;0.007;0.0;0.032	B;B;B;B	0.23150	0.039;0.007;0.007;0.044	T	0.10474	-1.0628	10	0.08837	T	0.75	.	17.5769	0.87952	0.0:1.0:0.0:0.0	.	1405;300;1335;1357	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	K	300;254;353;1405;1335;1357;1365;1406;1357;1335	ENSP00000341184:R300K;ENSP00000385580:R353K;ENSP00000385142:R1405K;ENSP00000384311:R1335K;ENSP00000434015:R1357K;ENSP00000385017:R1365K;ENSP00000385434:R1357K;ENSP00000385681:R1335K	ENSP00000341184:R300K	R	-	2	0	NRXN1	50133947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.495000	0.60353	2.582000	0.87167	0.655000	0.94253	AGA		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	100	0	0	0	0	4	100				
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:80646578G>A	ENST00000402739.4	+	8	1147	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGTAGCTTCGGAAAGCAGTG	0.358																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1141-1143)CGG>CAG		catenin, alpha 2 isoform 1							113.0	103.0	106.0					2																	80646578		1874	4122	5996	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646578G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1142G>A	2.37:g.80646578G>A	ENSP00000384638:p.Arg381Gln					CTNNA2_uc010yse.1_Missense_Mutation_p.R381Q|CTNNA2_uc010ysf.1_Missense_Mutation_p.R381Q|CTNNA2_uc010ysg.1_Missense_Mutation_p.R381Q|CTNNA2_uc010ysi.1_Missense_Mutation_p.R13Q	p.R381Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN			8	1147	+			381					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1142G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.233757	0.95207	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.64676	1.99	0.80722	D	1	B;D;D;D	0.69078	0.301;0.997;0.99;0.982	B;P;P;P	0.55222	0.066;0.756;0.771;0.642	T	0.52366	-0.8585	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	13;381;381;381	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	381;381;415;381;381;381;60;46	ENSP00000418191:R381Q;ENSP00000419295:R381Q;ENSP00000355398:R415Q;ENSP00000384638:R381Q;ENSP00000444675:R381Q;ENSP00000441705:R381Q;ENSP00000341500:R60Q;ENSP00000386587:R46Q	.	R	+	2	0	CTNNA2	80500089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGG		0.358	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	51	0	0	0	0	8	51				
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.3_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587																																						uc002tjc.2		NA																	0				ovary(2)	2						c.(1177-1179)TCT>TTT		pleckstrin and Sec7 domain containing 4							93.0	98.0	97.0					2																	113942946		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942946C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1178C>T	2.37:g.113942946C>T	ENSP00000245796:p.Ser393Phe					PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.S392F|PSD4_uc002tjf.2_5'UTR	p.S393F	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			4	1361	+			393					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1178C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049509	0.19827	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.14144	2.73;2.53	3.63	-2.68	0.06041	.	8.968620	0.00166	N	0.000000	T	0.07954	0.0199	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24083	-1.0170	10	0.34782	T	0.22	.	0.9654	0.01404	0.1719:0.1862:0.1718:0.4702	.	393;393	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	F	393	ENSP00000245796:S393F;ENSP00000413997:S393F	ENSP00000245796:S393F	S	+	2	0	PSD4	113659417	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.983000	0.03759	-0.544000	0.06232	-0.244000	0.11960	TCT		0.587	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		21	90	0	0	0	0	21	90				
SCN2A	6326	broad.mit.edu	37	2	166152455	166152455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:166152455G>A	ENST00000375437.2	+	2	412	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SCN2A_ENST00000357398.3_Missense_Mutation_p.R41H|SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	41					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAACAGGAACGCAAGGATGAG	0.473																																						uc002udc.2		NA																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(121-123)CGC>CAC		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						102.0	91.0	95.0					2																	166152455		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166152455G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.122G>A	2.37:g.166152455G>A	ENSP00000364586:p.Arg41His					SCN2A_uc002udd.2_Missense_Mutation_p.R41H|SCN2A_uc002ude.2_Missense_Mutation_p.R41H	p.R41H	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			2	412	+			41					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.122G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244912	0.22796	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96300	-3.97;-3.89;-3.89;-3.89;-3.89	5.55	5.55	0.83447	.	1.061420	0.07361	N	0.884086	D	0.91399	0.7286	N	0.11106	0.095	0.44067	D	0.99681	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.77968	-0.2388	10	0.23302	T	0.38	.	12.797	0.57564	0.0744:0.0:0.9256:0.0	.	41;41	Q99250-2;Q99250	.;SCN2A_HUMAN	H	41	ENSP00000406454:R41H;ENSP00000364586:R41H;ENSP00000349973:R41H;ENSP00000283256:R41H;ENSP00000364576:R41H	ENSP00000283256:R41H	R	+	2	0	SCN2A	165860701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.560000	0.53763	2.619000	0.88677	0.655000	0.94253	CGC		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	19	0	0	0	0	9	19				
TTN	7273	broad.mit.edu	37	2	179451387	179451387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179451387C>T	ENST00000591111.1	-	258	59542	c.59318G>A	c.(59317-59319)cGc>cAc	p.R19773H	TTN_ENST00000589042.1_Missense_Mutation_p.R21414H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12541H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19773	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGTCCAGCGATCTGCAGG	0.468																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(56536-56538)CGC>CAC		titin isoform N2-A							155.0	152.0	153.0					2																	179451387		1958	4174	6132	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451387C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59318G>A	2.37:g.179451387C>T	ENSP00000465570:p.Arg19773His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12541H|TTN_uc010zfi.1_Missense_Mutation_p.R12474H|TTN_uc010zfj.1_Missense_Mutation_p.R12349H	p.R18846H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	56761	-			19773					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56537G>A		.	.	.	.	.	.	.	.	.	.	C	19.70	3.877176	0.72180	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.07	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41373	0.1156	L	0.28608	0.87	0.32597	N	0.526371	B;B;B;B	0.14012	0.009;0.009;0.009;0.009	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.51490	-0.8699	9	0.87932	D	0	.	9.9076	0.41386	0.0:0.7955:0.0:0.2045	.	12349;12474;12541;19773	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	18846;12349;12541;12474;12347	ENSP00000343764:R18846H;ENSP00000434586:R12349H;ENSP00000340554:R12541H;ENSP00000352154:R12474H	ENSP00000340554:R12541H	R	-	2	0	TTN	179159633	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.331000	0.33793	1.569000	0.49696	0.655000	0.94253	CGC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	73	0	0	0	0	26	73				
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179606565C>T	ENST00000591111.1	-	46	10668	c.10444G>A	c.(10444-10446)Gaa>Aaa	p.E3482K	TTN_ENST00000589042.1_Missense_Mutation_p.E3799K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K			Q8WZ42	TITIN_HUMAN	titin	13805			E -> K (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3436K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACAAAAGTTCAAGTGTTTCA	0.373																																						uc010zfh.1		NA																	1	Substitution - Missense(1)	p.E3436K(1)	skin(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10882-10884)GAA>AAA		titin isoform novex-2							50.0	47.0	48.0					2																	179606565		1818	4072	5890	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606565C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10444G>A	2.37:g.179606565C>T	ENSP00000465570:p.Glu3482Lys					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3561K|TTN_uc010zfj.1_Missense_Mutation_p.E3436K|TTN_uc002umz.1_Intron	p.E3628K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11106	-			3613					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10882G>A		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285552	0.59867	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63744	0.02;-0.06;0.04	6.16	5.27	0.74061	.	.	.	.	.	T	0.50377	0.1612	L	0.27053	0.805	0.34972	D	0.753233	P;P;P	0.41393	0.748;0.748;0.748	B;B;B	0.34991	0.193;0.193;0.193	T	0.65878	-0.6061	9	0.87932	D	0	.	17.5251	0.87798	0.0:0.8762:0.1238:0.0	.	3436;3561;3628	D3DPF9;E7EQE6;E7ET18	.;.;.	K	3436;3628;3561;3436	ENSP00000434586:E3436K;ENSP00000340554:E3628K;ENSP00000352154:E3561K	ENSP00000340554:E3628K	E	-	1	0	TTN	179314810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.582000	0.60957	1.582000	0.49881	0.650000	0.86243	GAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	12	0	0	0	0	4	12				
ISM1	140862	broad.mit.edu	37	20	13279972	13279972	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:13279972C>T	ENST00000262487.4	+	6	1267	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	421	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTGGACGTCCTGCCCTGGAT	0.622																																						uc010gce.1		NA																	0					0						c.(1261-1263)CTG>TTG		isthmin 1 homolog precursor							33.0	38.0	36.0					20																	13279972		2113	4235	6348	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13279972C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1261C>T	20.37:g.13279972C>T						TASP1_uc010zri.1_Intron	p.L421L	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			6	1267	+			421			AMOP.		Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.1261C>T	CCDS46579.1																																																																																				0.622	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			5	21	0	0	0	0	5	21				
PCK1	5105	broad.mit.edu	37	20	56137828	56137828	+	Silent	SNP	G	G	A	rs530695277		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:56137828G>A	ENST00000319441.4	+	4	647	c.483G>A	c.(481-483)acG>acA	p.T161T	PCK1_ENST00000535860.1_Silent_p.T29T|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	161					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCGAGCTGACGGATTCACCCT	0.612													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17188	0.0		0.0	False		,,,				2504	0.0					uc002xyn.3		NA																	0				skin(1)	1						c.(481-483)ACG>ACA		cytosolic phosphoenolpyruvate carboxykinase 1							73.0	61.0	65.0					20																	56137828		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137828G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.483G>A	20.37:g.56137828G>A						PCK1_uc010zzm.1_Intron	p.T161T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	646	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		161					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.483G>A	CCDS13460.1																																																																																				0.612	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			4	46	0	0	0	0	4	46				
HELZ2	85441	broad.mit.edu	37	20	62192986	62192986	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:62192986G>A	ENST00000467148.1	-	12	6873	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S	HELZ2_ENST00000427522.2_Silent_p.S1699S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2268	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTCCCGGGGGCTCTTCCTGA	0.657																																						uc002yfm.2		NA																	0				central_nervous_system(2)	2						c.(6802-6804)AGC>AGT		PPAR-alpha interacting complex protein 285							54.0	64.0	60.0					20																	62192986		2203	4296	6499	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62192986G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6804C>T	20.37:g.62192986G>A						PRIC285_uc002yfl.1_Silent_p.S1699S	p.S2268S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		13	7696	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2268					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6804C>T	CCDS33508.1																																																																																				0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		42	62	0	0	0	0	42	62				
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A	rs528367507		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000155674.5_Silent_p.L226L|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537																																						uc002zmf.2		NA																	0					0						c.(766-768)CTG>CTT		cat eye syndrome chromosome region, candidate 5							148.0	137.0	141.0					22																	17619607		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17619607C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.768G>T	22.37:g.17619607C>A						CECR5_uc002zmd.2_Silent_p.L67L|CECR5_uc002zme.2_Silent_p.L48L|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Silent_p.L226L	p.L256L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			7	796	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	256					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.768G>T	CCDS33595.1																																																																																				0.537	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		13	121	1	0	9.31e-06	1.04e-05	13	121				
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:32017676G>A	ENST00000439502.2	-	4	740	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	PISD_ENST00000382151.2_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000266095.5_Silent_p.L139L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602																																						uc003alm.3		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(517-519)CTG>TTG		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						42.0	41.0	42.0					22																	32017676		2202	4299	6501	SO:0001819	synonymous_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32017676G>A		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.517C>T	22.37:g.32017676G>A						PISD_uc003alk.2_Silent_p.L139L|PISD_uc003all.2_Silent_p.L138L|PISD_uc011alr.1_Silent_p.L138L|PISD_uc003aln.3_Silent_p.L173L	p.L173L	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			4	524	-			173					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37	c.517C>T																																																																																					0.602	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			5	29	0	0	0	0	5	29				
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692																																						uc003avs.1		NA																	0					0						c.(322-324)CCG>CCA		potassium inwardly-rectifying channel J4							40.0	37.0	38.0					22																	38823814		2202	4300	6502	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823814C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.324G>A	22.37:g.38823814C>T						KCNJ4_uc003avt.1_Silent_p.P108P	p.P108P	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	421	-	Melanoma(58;0.0286)		108			Val/Gly/Ala/Pro stretch.|Extracellular (By similarity).		Q14D44	Silent	SNP	ENST00000303592.3	37	c.324G>A	CCDS13971.1																																																																																				0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		15	23	0	0	0	0	15	23				
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G	rs201198885		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667																																						uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(2671-2673)CTC>CTG		zinc finger CCCH-type containing 7B							67.0	64.0	65.0					22																	41752804		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41752804C>G		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2673C>G	22.37:g.41752804C>G						ZC3H7B_uc010gyl.1_Intron	p.L891L	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			22	2889	+			907			C3H1-type 4.		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.2673C>G	CCDS14013.1																																																																																				0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	39	0	0	0	0	7	39				
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:45929029G>C	ENST00000327858.6	+	6	726	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000348697.2_Missense_Mutation_p.G211R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637																																						uc003bgj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(631-633)GGT>CGT		fibulin 1 isoform D							181.0	117.0	139.0					22																	45929029		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45929029G>C		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.631G>C	22.37:g.45929029G>C	ENSP00000331544:p.Gly211Arg					FBLN1_uc003bgg.1_Missense_Mutation_p.G211R|FBLN1_uc003bgh.2_Missense_Mutation_p.G211R|FBLN1_uc010gzz.2_Missense_Mutation_p.G249R|FBLN1_uc003bgi.1_Missense_Mutation_p.G211R	p.G211R	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	6	778	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	211			EGF-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.631G>C	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238485	0.79800	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000451475	T;T;T;T;T;T;T	0.75050	-0.9;1.4;1.4;1.4;1.4;1.4;-0.9	5.44	3.24	0.37175	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.350346	0.32703	N	0.005745	T	0.79919	0.4529	M	0.64630	1.985	0.48830	D	0.999718	D;P;P;D	0.61080	0.982;0.93;0.851;0.989	P;P;P;D	0.62955	0.813;0.559;0.646;0.909	T	0.76940	-0.2773	10	0.28530	T	0.3	.	10.5502	0.45083	0.0726:0.1336:0.7938:0.0	.	249;211;211;211	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	R	211;249;211;211;211;211;131	ENSP00000262723:G211R;ENSP00000385521:G249R;ENSP00000262722:G211R;ENSP00000331544:G211R;ENSP00000393812:G211R;ENSP00000342212:G211R;ENSP00000415160:G131R	ENSP00000262722:G211R	G	+	1	0	FBLN1	44307693	1.000000	0.71417	0.811000	0.32455	0.769000	0.43574	4.216000	0.58540	1.294000	0.44707	0.484000	0.47621	GGT		0.637	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		8	35	0	0	0	0	8	35				
DPPA4	55211	broad.mit.edu	37	3	109049479	109049479	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:109049479T>G	ENST00000335658.6	-	5	625	c.571A>C	c.(571-573)Aca>Cca	p.T191P	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	191					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACCACAACTGTATTAACTCCC	0.562																																						uc003dxq.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(571-573)ACA>CCA		developmental pluripotency associated 4							71.0	76.0	74.0					3																	109049479		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049479T>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.571A>C	3.37:g.109049479T>G	ENSP00000335306:p.Thr191Pro					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.T191P	p.T191P	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	626	-			191					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.571A>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118280	0.77323	.	.	ENSG00000121570	ENST00000335658	T	0.57273	0.41	4.25	0.414	0.16406	.	0.678117	0.13499	N	0.383404	T	0.60170	0.2248	M	0.70275	2.135	0.09310	N	1	D;D	0.60575	0.985;0.988	P;P	0.60012	0.867;0.796	T	0.49322	-0.8952	9	.	.	.	-0.6236	3.42	0.07389	0.0:0.2414:0.2031:0.5555	.	181;191	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	P	191	ENSP00000335306:T191P	.	T	-	1	0	DPPA4	110532169	0.008000	0.16893	0.000000	0.03702	0.867000	0.49689	1.401000	0.34589	0.065000	0.16485	0.383000	0.25322	ACA		0.562	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		43	35	0	0	0	0	43	35				
GRAMD1C	54762	broad.mit.edu	37	3	113563487	113563487	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:113563487G>C	ENST00000358160.4	+	2	657	c.165G>C	c.(163-165)tgG>tgC	p.W55C	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	55						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTGGTGACTGGAGCTTTTGGG	0.318																																						uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(163-165)TGG>TGC		GRAM domain containing 1C							104.0	108.0	107.0					3																	113563487		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113563487G>C		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.165G>C	3.37:g.113563487G>C	ENSP00000350881:p.Trp55Cys					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA	p.W55C	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			2	241	+			55					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.165G>C	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542948	0.65198	.	.	ENSG00000178075	ENST00000358160	T	0.31247	1.5	5.58	5.58	0.84498	.	1.406840	0.04339	N	0.353741	T	0.55049	0.1896	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.07139	-1.0788	10	0.54805	T	0.06	.	15.0747	0.72069	0.0:0.0:1.0:0.0	.	55	Q8IYS0	GRM1C_HUMAN	C	55	ENSP00000350881:W55C	ENSP00000350881:W55C	W	+	3	0	GRAMD1C	115046177	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.324000	0.52022	2.638000	0.89438	0.655000	0.94253	TGG		0.318	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		11	68	0	0	0	0	11	68				
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAAGGTGGATAATTTAGTTCG	0.264										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4249-4251)TAT>CAT		sucrase-isomaltase	Acarbose(DB00284)						152.0	156.0	155.0					3																	164725717		2202	4293	6495	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164725717A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4249T>C	3.37:g.164725717A>G	ENSP00000264382:p.Tyr1417His	HNSCC(35;0.089)					p.Y1417H	NM_001041	NP_001032	P14410	SUIS_HUMAN			36	4311	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1417			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4249T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	1.486	-0.555897	0.03967	.	.	ENSG00000090402	ENST00000264382	D	0.88586	-2.4	4.92	2.27	0.28462	Glycoside hydrolase, superfamily (1);	0.905653	0.09351	N	0.814071	T	0.79644	0.4481	L	0.28608	0.87	0.22185	N	0.999304	B	0.02656	0.0	B	0.10450	0.005	T	0.62324	-0.6878	10	0.14656	T	0.56	.	5.2096	0.15308	0.7251:0.0:0.0853:0.1896	.	1417	P14410	SUIS_HUMAN	H	1417	ENSP00000264382:Y1417H	ENSP00000264382:Y1417H	Y	-	1	0	SI	166208411	0.028000	0.19301	0.549000	0.28204	0.597000	0.36814	0.813000	0.27225	0.769000	0.33313	0.477000	0.44152	TAT		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	75	0	0	0	0	8	75				
TRA2B	6434	broad.mit.edu	37	3	185644425	185644425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:185644425C>T	ENST00000453386.2	-	2	409	c.134G>A	c.(133-135)cGt>cAt	p.R45H	TRA2B_ENST00000382191.4_Intron|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	45	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TGATCTGGAACGCCTGGAATC	0.488																																						uc003fpv.2		NA																	0				ovary(2)	2						c.(133-135)CGT>CAT		splicing factor, arginine/serine-rich 10							125.0	120.0	122.0					3																	185644425		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185644425C>T	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.134G>A	3.37:g.185644425C>T	ENSP00000416959:p.Arg45His					TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Intron|TRA2B_uc003fpw.2_Missense_Mutation_p.R45H	p.R45H	NM_004593	NP_004584	P62995	TRA2B_HUMAN			2	410	-			45			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.134G>A	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094195	0.20471	.	.	ENSG00000136527	ENST00000453386	T	0.28895	1.59	6.01	5.14	0.70334	.	0.141974	0.64402	D	0.000003	T	0.10380	0.0254	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14144	-1.0483	10	0.08381	T	0.77	-4.8752	10.1948	0.43047	0.0:0.8477:0.0:0.1523	.	45;45	B2RDQ3;P62995	.;TRA2B_HUMAN	H	45	ENSP00000416959:R45H	ENSP00000416959:R45H	R	-	2	0	TRA2B	187127119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.688000	0.46984	1.558000	0.49541	0.650000	0.86243	CGT		0.488	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		28	61	0	0	0	0	28	61				
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1624-1626)GAA>AAA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						82.0	89.0	87.0					4																	42551058		2203	4298	6501	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42551058C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1624G>A	4.37:g.42551058C>T	ENSP00000371084:p.Glu542Lys					ATP8A1_uc003gws.2_Missense_Mutation_p.E527K|ATP8A1_uc011byz.1_Missense_Mutation_p.E527K	p.E542K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			19	1856	-			542			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1624G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987534	0.93106	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058226	0.64402	D	0.000002	T	0.77418	0.4127	L	0.49571	1.57	0.80722	D	1	D;P;P	0.57257	0.979;0.526;0.879	D;P;P	0.71414	0.973;0.72;0.772	T	0.75233	-0.3390	10	0.36615	T	0.2	.	17.5541	0.87885	0.0:1.0:0.0:0.0	.	527;527;542	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	K	542;527	ENSP00000371084:E542K;ENSP00000264449:E527K	ENSP00000264449:E527K	E	-	1	0	ATP8A1	42245815	1.000000	0.71417	0.982000	0.44146	0.847000	0.48162	6.614000	0.74197	2.478000	0.83669	0.591000	0.81541	GAA		0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		9	40	0	0	0	0	9	40				
SETD9	133383	broad.mit.edu	37	5	56207180	56207180	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:56207180C>A	ENST00000285947.2	+	2	669	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K	SETD9_ENST00000475908.1_3'UTR|AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Missense_Mutation_p.Q95K	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	95							methyltransferase activity (GO:0008168)										AGTTGAACATCAAGGGGTGAA	0.363																																						uc003jqx.2		NA																	0				ovary(1)	1						c.(283-285)CAA>AAA		hypothetical protein LOC133383							59.0	57.0	57.0					5																	56207180		2203	4300	6503	SO:0001583	missense	133383							g.chr5:56207180C>A	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.283C>A	5.37:g.56207180C>A	ENSP00000285947:p.Gln95Lys					C5orf35_uc003jqy.2_Intron	p.Q95K	NM_153706	NP_714917	Q8NE22	CE035_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)	2	656	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)	95					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.283C>A	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653983	0.03480	.	.	ENSG00000155542	ENST00000285947;ENST00000541720	T;T	0.28895	1.59;1.59	5.57	5.57	0.84162	.	0.596788	0.18142	N	0.150393	T	0.19446	0.0467	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	10	0.05959	T	0.93	-9.4778	10.9804	0.47490	0.2003:0.6784:0.1212:0.0	.	95	Q8NE22	CE035_HUMAN	K	95	ENSP00000285947:Q95K;ENSP00000442886:Q95K	ENSP00000285947:Q95K	Q	+	1	0	C5orf35	56242937	0.000000	0.05858	0.663000	0.29738	0.836000	0.47400	0.514000	0.22786	2.640000	0.89533	0.655000	0.94253	CAA		0.363	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		22	20	1	0	3.1e-05	3.42e-05	22	20				
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T	rs570357353	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.0031				Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(2224-2226)TCA>TTA		microtubule-associated protein 1B							62.0	67.0	66.0					5																	71491407		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491407C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2225C>T	5.37:g.71491407C>T	ENSP00000296755:p.Ser742Leu					MAP1B_uc010iyw.1_Missense_Mutation_p.S759L|MAP1B_uc010iyx.1_Missense_Mutation_p.S616L|MAP1B_uc010iyy.1_Missense_Mutation_p.S616L	p.S742L	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2466	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	742			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2225C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.236	-1.017599	0.02078	.	.	ENSG00000131711	ENST00000296755	T	0.20463	2.07	5.13	2.99	0.34606	.	0.788128	0.11371	N	0.570902	T	0.14184	0.0343	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.27785	T	0.31	1.0794	9.9795	0.41804	0.0:0.7493:0.0:0.2507	.	616;742	A2BDK6;P46821	.;MAP1B_HUMAN	L	742	ENSP00000296755:S742L	ENSP00000296755:S742L	S	+	2	0	MAP1B	71527163	0.001000	0.12720	0.016000	0.15963	0.017000	0.09413	1.472000	0.35376	1.159000	0.42565	-0.253000	0.11424	TCA		0.393	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	77	0	0	0	0	8	77				
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:96121595C>T	ENST00000443439.2	-	13	1906	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000602972.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413																																						uc003kmm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1840-1842)GAT>AAT		type 1 tumor necrosis factor receptor shedding							153.0	122.0	133.0					5																	96121595		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96121595C>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1840G>A	5.37:g.96121595C>T	ENSP00000406304:p.Asp614Asn					ERAP1_uc003kml.2_Missense_Mutation_p.D614N|ERAP1_uc010jbm.1_Missense_Mutation_p.D426N|ERAP1_uc003kmn.2_Missense_Mutation_p.D614N	p.D614N	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	13	2187	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	614			Lumenal (Potential).		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1840G>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700701	0.48307	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06371	3.31;3.31	5.77	4.91	0.64330	.	0.232644	0.44483	D	0.000455	T	0.10423	0.0255	M	0.66939	2.045	0.50313	D	0.999864	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.12837	0.001;0.008;0.004	T	0.03354	-1.1045	10	0.36615	T	0.2	.	14.7055	0.69186	0.0:0.9299:0.0:0.0701	.	614;614;614	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	N	614	ENSP00000296754:D614N;ENSP00000406304:D614N	ENSP00000296754:D614N	D	-	1	0	ERAP1	96147351	0.783000	0.28701	1.000000	0.80357	0.798000	0.45092	1.947000	0.40293	1.446000	0.47643	-0.254000	0.11334	GAT		0.413	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		4	49	0	0	0	0	4	49				
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:114499269G>C	ENST00000282369.3	-	2	365	c.244C>G	c.(244-246)Cga>Gga	p.R82G	TRIM36_ENST00000513154.1_Missense_Mutation_p.R70G|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453																																						uc003kqs.2		NA																	0				ovary(4)|lung(2)|breast(2)	8						c.(244-246)CGA>GGA		tripartite motif-containing 36 isoform 1							139.0	131.0	134.0					5																	114499269		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499269G>C	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.244C>G	5.37:g.114499269G>C	ENSP00000282369:p.Arg82Gly					TRIM36_uc011cwc.1_Missense_Mutation_p.R70G|TRIM36_uc003kqt.2_Intron	p.R82G	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	753	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	82			RING-type; degenerate.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.244C>G	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772065	0.69992	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.56444	0.46;0.58;0.86	5.31	4.41	0.53225	Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000001	T	0.68109	0.2965	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.65319	-0.6197	10	0.21014	T	0.42	.	14.9924	0.71399	0.0:0.0:0.8562:0.1438	.	70;82	E9PFI8;Q9NQ86	.;TRI36_HUMAN	G	82;70;70	ENSP00000282369:R82G;ENSP00000423934:R70G;ENSP00000424743:R70G	ENSP00000282369:R82G	R	-	1	2	TRIM36	114527168	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.088000	0.57678	1.163000	0.42636	0.655000	0.94253	CGA		0.453	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		5	49	0	0	0	0	5	49				
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0		p.R502H(1)		ovary(2)|skin(2)	4						c.(1504-1506)CGC>CGT		protocadherin alpha 7 isoform 1 precursor							64.0	68.0	67.0					5																	140215474		2203	4297	6500	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215474C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1506C>T	5.37:g.140215474C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R502R	p.R502R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1506	+			502			Cadherin 5.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1506C>T	CCDS54918.1																																																																																				0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		13	79	0	0	0	0	13	79				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						uc003lhx.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(2)|skin(2)|breast(1)	5						c.(1615-1617)GGG>GCG		protocadherin alpha 10 isoform 1 precursor							53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A	p.G539A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+			539			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		5	82	0	0	0	0	5	82				
SLC34A1	6569	broad.mit.edu	37	5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A	rs200137299		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGGAAACGCACGGCCAAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17541	0.0		0.0	False		,,,				2504	0.0					uc003mgk.3		NA																	0				ovary(1)	1						c.(1519-1521)CGC>CAC		solute carrier family 34 (sodium phosphate),		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	108.0	116.0		1520	4.3	0.9	5		116	0,8600		0,0,4300	no	missense	SLC34A1	NM_003052.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	507/640	176824887	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824887G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1520G>A	5.37:g.176824887G>A	ENSP00000321424:p.Arg507His						p.R507H	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1621	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	507			Cytoplasmic (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1520G>A	CCDS4418.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.431	0.264725	0.10294	2.27E-4	0.0	ENSG00000131183	ENST00000324417	T	0.31769	1.48	5.22	4.33	0.51752	.	0.178871	0.48286	D	0.000194	T	0.25419	0.0618	L	0.49126	1.545	0.36431	D	0.864928	B	0.21688	0.059	B	0.11329	0.006	T	0.17198	-1.0377	10	0.39692	T	0.17	-14.7229	7.4012	0.26965	0.0766:0.0:0.6236:0.2998	.	507	Q06495	NPT2A_HUMAN	H	507	ENSP00000321424:R507H	ENSP00000321424:R507H	R	+	2	0	SLC34A1	176757493	0.986000	0.35501	0.909000	0.35828	0.163000	0.22366	3.109000	0.50345	1.148000	0.42385	0.305000	0.20034	CGC		0.607	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		16	63	0	0	0	0	16	63				
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:31635648G>C	ENST00000375882.2	+	3	232	c.76G>C	c.(76-78)Gat>Cat	p.D26H	GPANK1_ENST00000375896.4_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|GPANK1_ENST00000375906.1_5'Flank|LY6G5B_ENST00000375864.4_5'Flank|GPANK1_ENST00000375895.2_5'Flank|GPANK1_ENST00000375893.2_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|GPANK1_ENST00000375900.4_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	26					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CTGACAGGTGGATGAAGACTA	0.458																																						uc003nvr.1		NA																	0					0						c.(76-78)GAT>CAT		casein kinase 2, beta polypeptide							107.0	96.0	100.0					6																	31635648		2203	4300	6503	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31635648G>C	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.76G>C	6.37:g.31635648G>C	ENSP00000365042:p.Asp26His					BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.D26H|CSNK2B_uc003nvs.1_Missense_Mutation_p.D26H	p.D26H	NM_001320	NP_001311	P67870	CSK2B_HUMAN			3	416	+			26					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.76G>C	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769146	0.90020	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.64	5.64	0.86602	Casein kinase II, regulatory subunit, alpha-helical (1);	0.049081	0.85682	N	0.000000	D	0.83175	0.5197	M	0.91717	3.235	0.58432	D	0.999997	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.69479	0.936;0.964;0.936	D	0.86601	0.1866	8	0.87932	D	0	-13.207	17.1949	0.86890	0.0:0.0:1.0:0.0	.	26;26;26	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	H	45;26;26;26;26	.	ENSP00000365025:D26H	D	+	1	0	CSNK2B	31743627	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.013000	0.93629	2.654000	0.90174	0.655000	0.94253	GAT		0.458	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		13	20	0	0	0	0	13	20				
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TTGGTACTGGGGTCCGCGTCG	0.711																																						uc003ooc.2		NA																	0				ovary(1)	1						c.(73-75)CCC>TCC		glyoxalase I	Glutathione(DB00143)						15.0	17.0	16.0					6																	38670758		2198	4292	6490	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38670758G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.73C>T	6.37:g.38670758G>A	ENSP00000362463:p.Pro25Ser						p.P25S	NM_006708	NP_006699	Q04760	LGUL_HUMAN			1	195	-			25					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.73C>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639396	0.67244	.	.	ENSG00000124767	ENST00000373365	T	0.28666	1.6	5.65	5.65	0.86999	.	0.050126	0.85682	D	0.000000	T	0.09512	0.0234	N	0.08118	0	0.51767	D	0.999934	B	0.18863	0.031	B	0.17433	0.018	T	0.06391	-1.0829	10	0.41790	T	0.15	-12.3174	15.093	0.72211	0.0:0.0:1.0:0.0	.	25	Q04760	LGUL_HUMAN	S	25	ENSP00000362463:P25S	ENSP00000362463:P25S	P	-	1	0	GLO1	38778736	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.140000	0.58031	2.941000	0.99782	0.655000	0.94253	CCC		0.711	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		3	23	0	0	0	0	3	23				
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000449981.2_Silent_p.L267L|DNAH8_ENST00000441566.1_Silent_p.L50L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	50					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAAAGGACTCTTAAATGGAA	0.398																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(148-150)CTC>CTG		dynein, axonemal, heavy polypeptide 8							106.0	105.0	105.0					6																	38704881		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38704881C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.150C>G	6.37:g.38704881C>G							p.L50L	NM_001371	NP_001362					4	750	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.150C>G																																																																																					0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	83	0	0	0	0	5	83				
SLC17A5	26503	broad.mit.edu	37	6	74331548	74331548	+	Silent	SNP	G	G	A	rs147732875	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:74331548G>A	ENST00000355773.5	-	7	1225	c.957C>T	c.(955-957)atC>atT	p.I319I	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	319					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAACCTTAGGATCTCCTTCA	0.313																																						uc003phn.3		NA																	0				skin(5)|central_nervous_system(1)	6						c.(955-957)ATC>ATT		sialin							42.0	43.0	43.0					6																	74331548		2203	4300	6503	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331548G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.957C>T	6.37:g.74331548G>A						SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Silent_p.I188I	p.I319I	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN			7	1085	-			319					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.957C>T	CCDS4981.1																																																																																				0.313	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			9	21	0	0	0	0	9	21				
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:127796911C>T	ENST00000525778.1	-	6	3005	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	754					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCGTCGCTCTCGGCGTCGCTG	0.701																																						uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(2260-2262)GAG>AAG		hypothetical protein LOC387104 precursor							41.0	48.0	46.0					6																	127796911		2128	4236	6364	SO:0001583	missense	387104					integral to membrane		g.chr6:127796911C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2260G>A	6.37:g.127796911C>T	ENSP00000434570:p.Glu754Lys					C6orf174_uc003qbc.2_5'Flank	p.E754K	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3125	-			754						Missense_Mutation	SNP	ENST00000525778.1	37	c.2260G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370387	0.95900	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.66939	2.045	0.80722	D	1	P	0.43287	0.802	B	0.40741	0.339	T	0.15093	-1.0449	10	0.56958	D	0.05	-23.7321	18.91	0.92479	0.0:1.0:0.0:0.0	.	754	Q5TF21	CF174_HUMAN	K	754	ENSP00000451768:E754K;ENSP00000357251:E754K;ENSP00000434570:E754K;ENSP00000435559:E754K	ENSP00000435559:E754K	E	-	1	0	C6orf174	127838604	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.614000	0.82996	2.476000	0.83614	0.462000	0.41574	GAG		0.701	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		11	83	0	0	0	0	11	83				
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:151857487C>T	ENST00000239374.7	+	2	191	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000367290.5_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433																																						uc003qol.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(91-93)ACG>ATG		hypothetical protein LOC80129							104.0	97.0	99.0					6																	151857487		1854	4094	5948	SO:0001583	missense	80129							g.chr6:151857487C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.92C>T	6.37:g.151857487C>T	ENSP00000239374:p.Thr31Met						p.T31M	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	2	181	+		Ovarian(120;0.126)	31			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.92C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086199	0.36855	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.11821	2.75;2.74	5.95	3.17	0.36434	.	0.491298	0.22181	N	0.063519	T	0.16257	0.0391	M	0.73962	2.25	0.26952	N	0.966002	D	0.71674	0.998	P	0.59288	0.855	T	0.05451	-1.0884	10	0.87932	D	0	-1.2721	9.129	0.36833	0.0:0.7463:0.1219:0.1318	.	31	Q8IYT3	CF097_HUMAN	M	31	ENSP00000239374:T31M;ENSP00000356259:T31M	ENSP00000239374:T31M	T	+	2	0	C6orf97	151899180	0.675000	0.27558	0.047000	0.18901	0.001000	0.01503	1.302000	0.33459	0.389000	0.25086	-0.157000	0.13467	ACG		0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		5	57	0	0	0	0	5	57				
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A	rs199944074		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000320399.6_Silent_p.G488G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G|ELN_ENST00000458204.1_Silent_p.G478G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGCTCCTGGTGTCGGTGTGG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						T|||	1	0.000199681	0.0	0.0	5008	,	,		13855	0.0		0.0	False		,,,				2504	0.001					uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1480-1482)GGT>GGA		elastin isoform a precursor	Rofecoxib(DB00533)																																			SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474265T>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1464T>A	7.37:g.73474265T>A						RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.G488G|ELN_uc003tzz.2_Silent_p.G407G|ELN_uc003tzo.2_Silent_p.G455G|ELN_uc003tzp.2_Silent_p.G399G|ELN_uc003tzq.2_Silent_p.G352G|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.G469G|ELN_uc003tzt.2_Silent_p.G493G|ELN_uc003tzu.2_Silent_p.G474G|ELN_uc003tzv.2_Silent_p.G459G|ELN_uc003tzx.2_Silent_p.G478G|ELN_uc011kff.1_Silent_p.G488G|ELN_uc003tzy.2_Silent_p.G464G	p.G494G	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1573	+		Lung NSC(55;0.159)	517			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1482T>A	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		9	174	0	0	0	0	9	174				
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T	rs200512332		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000320399.6_Silent_p.V489V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V|ELN_ENST00000458204.1_Silent_p.V479V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTCCTGGTGTCGGTGTGGCTC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		13578	0.0		0.0	False		,,,				2504	0.001					uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1483-1485)GTC>GTT		elastin isoform a precursor	Rofecoxib(DB00533)						217.0	204.0	209.0					7																	73474268		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474268C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1467C>T	7.37:g.73474268C>T						RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.V489V|ELN_uc003tzz.2_Silent_p.V408V|ELN_uc003tzo.2_Silent_p.V456V|ELN_uc003tzp.2_Silent_p.V400V|ELN_uc003tzq.2_Silent_p.V353V|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.V470V|ELN_uc003tzt.2_Silent_p.V494V|ELN_uc003tzu.2_Silent_p.V475V|ELN_uc003tzv.2_Silent_p.V460V|ELN_uc003tzx.2_Silent_p.V479V|ELN_uc011kff.1_Silent_p.V489V|ELN_uc003tzy.2_Silent_p.V465V	p.V495V	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1576	+		Lung NSC(55;0.159)	518			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1485C>T	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		15	174	0	0	0	0	15	174				
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C	rs576324025	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000320399.6_Silent_p.G490G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G|ELN_ENST00000458204.1_Silent_p.G480G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTGGTGTCGGTGTGGCTCCTG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	2	0.000399361	0.0	0.0	5008	,	,		13429	0.0		0.001	False		,,,				2504	0.001					uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1486-1488)GGT>GGC		elastin isoform a precursor	Rofecoxib(DB00533)						213.0	200.0	204.0					7																	73474271		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474271T>C		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1470T>C	7.37:g.73474271T>C						RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.G490G|ELN_uc003tzz.2_Silent_p.G409G|ELN_uc003tzo.2_Silent_p.G457G|ELN_uc003tzp.2_Silent_p.G401G|ELN_uc003tzq.2_Silent_p.G354G|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.G471G|ELN_uc003tzt.2_Silent_p.G495G|ELN_uc003tzu.2_Silent_p.G476G|ELN_uc003tzv.2_Silent_p.G461G|ELN_uc003tzx.2_Silent_p.G480G|ELN_uc011kff.1_Silent_p.G490G|ELN_uc003tzy.2_Silent_p.G466G	p.G496G	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1579	+		Lung NSC(55;0.159)	519			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1488T>C	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		15	173	0	0	0	0	15	173				
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597																																						uc003uvy.2		NA																	0				ovary(1)	1						c.(565-567)ATC>ATT		actin-like 6B							75.0	66.0	69.0					7																	100246281		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246281G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.567C>T	7.37:g.100246281G>A						ACTL6B_uc003uvx.1_5'UTR|ACTL6B_uc003uvz.2_RNA	p.I189I	NM_016188	NP_057272	O94805	ACL6B_HUMAN			7	674	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		189					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.567C>T	CCDS5702.1																																																																																				0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		9	13	0	0	0	0	9	13				
MUC17	140453	broad.mit.edu	37	7	100678877	100678877	+	Nonsense_Mutation	SNP	G	G	T	rs71286279		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100678877G>T	ENST00000306151.4	+	3	4244	c.4180G>T	c.(4180-4182)Gga>Tga	p.G1394*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1394	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAACCACTCC	0.507																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4180-4182)GGA>TGA		mucin 17 precursor							259.0	264.0	262.0					7																	100678877		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678877G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4180G>T	7.37:g.100678877G>T	ENSP00000302716:p.Gly1394*					MUC17_uc010lho.1_RNA	p.G1394*	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4233	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1394			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.4180G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	39	7.523234	0.98335	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.838	0.838	0.18902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	5.1494	0.15002	0.0:0.0:1.0:0.0	.	.	.	.	X	1394	.	ENSP00000302716:G1394X	G	+	1	0	MUC17	100465597	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.665000	0.05286	0.790000	0.33803	0.134000	0.15878	GGA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		91	272	1	0	4.22e-46	4.93e-46	91	272				
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418																																						uc003vfq.1		NA																	0					0						c.(436-438)GCC>GCT		IMP2 inner mitochondrial membrane protease-like							71.0	71.0	71.0					7																	110303748		2203	4300	6503	SO:0001819	synonymous_variant	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110303748G>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.438C>T	7.37:g.110303748G>A						IMMP2L_uc010ljr.1_Silent_p.A146A	p.A146A	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	6	881	-			146					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	ENST00000405709.2	37	c.438C>T	CCDS5753.1																																																																																				0.418	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		6	48	0	0	0	0	6	48				
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAGTTGTGTGATATAAAATT	0.303																																						uc003yjd.2		NA																	0				kidney(1)|skin(1)	2						c.(1648-1650)ATC>ATT		F-box protein 43 isoform b							119.0	110.0	113.0					8																	101149817		1812	4069	5881	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101149817G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1650C>T	8.37:g.101149817G>A						FBXO43_uc003yje.2_Silent_p.I516I|FBXO43_uc010mbp.1_Silent_p.I550I	p.I550I	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		3	2363	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		550						Silent	SNP	ENST00000428847.2	37	c.1650C>T	CCDS47904.1																																																																																				0.303	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		17	20	0	0	0	0	17	20				
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCACATTCCGTACAACAACA	0.318																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(3625-3627)ACG>ATG		ubiquitin protein ligase E3 component n-recognin							70.0	69.0	69.0					8																	103309160		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103309160G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3626C>T	8.37:g.103309160G>A	ENSP00000429084:p.Thr1209Met					UBR5_uc003yks.1_Missense_Mutation_p.T1209M	p.T1209M	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		28	3659	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1209			UBR-type.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3626C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018014	0.93404	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.82803	-1.65;-1.65;-1.65	5.66	5.66	0.87406	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.105732	0.64402	D	0.000006	D	0.91713	0.7380	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91858	0.5497	10	0.87932	D	0	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	1203;1209	E7EMW7;O95071	.;UBR5_HUMAN	M	1209;1209;1203	ENSP00000429084:T1209M;ENSP00000220959:T1209M;ENSP00000427819:T1203M	ENSP00000220959:T1209M	T	-	2	0	UBR5	103378336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.567000	0.98161	2.831000	0.97527	0.650000	0.86243	ACG		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	33	0	0	0	0	4	33				
ZFAT	57623	broad.mit.edu	37	8	135620985	135620985	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:135620985T>C	ENST00000377838.3	-	5	946	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V|ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V|ZFAT_ENST00000520727.1_Missense_Mutation_p.M246V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	258					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGACTTCATTGGTTGCTCA	0.483																																						uc003yup.2		NA																	0				central_nervous_system(1)	1						c.(772-774)ATG>GTG		zinc finger protein 406 isoform ZFAT-1							137.0	132.0	134.0					8																	135620985		1990	4163	6153	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135620985T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.772A>G	8.37:g.135620985T>C	ENSP00000367069:p.Met258Val					ZFAT_uc003yun.2_Missense_Mutation_p.M246V|ZFAT_uc003yuo.2_Missense_Mutation_p.M246V|ZFAT_uc010meh.2_Missense_Mutation_p.M246V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.M246V|ZFAT_uc010mej.2_Missense_Mutation_p.M196V|ZFAT_uc003yur.2_Missense_Mutation_p.M246V	p.M258V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	947	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		258					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.772A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176661	0.38413	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.47177	3.1;3.03;3.04;3.02;3.03;3.08;0.85	5.94	5.94	0.96194	.	0.102441	0.64402	D	0.000005	T	0.35537	0.0935	N	0.19112	0.55	0.33921	D	0.640908	B;B;P;P	0.42871	0.373;0.214;0.792;0.524	B;B;B;B	0.38264	0.037;0.056;0.269;0.095	T	0.55159	-0.8184	10	0.66056	D	0.02	-43.9821	15.579	0.76418	0.0:0.0:0.0:1.0	.	196;246;246;258	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	246;246;246;258;246;246;196;246;196	ENSP00000427879:M246V;ENSP00000427831:M246V;ENSP00000394501:M246V;ENSP00000367069:M258V;ENSP00000428483:M246V;ENSP00000429091:M196V;ENSP00000429983:M196V	ENSP00000326997:M246V	M	-	1	0	ZFAT	135690167	1.000000	0.71417	0.986000	0.45419	0.838000	0.47535	4.326000	0.59241	2.279000	0.76181	0.459000	0.35465	ATG		0.483	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		52	42	0	0	0	0	52	42				
ZC3H3	23144	broad.mit.edu	37	8	144589967	144589967	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:144589967G>C	ENST00000262577.5	-	4	1695	c.1664C>G	c.(1663-1665)cCc>cGc	p.P555R		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGGGGGAAGGGCGGGGCGCT	0.667																																						uc003yyd.2		NA																	0				skin(1)	1						c.(1663-1665)CCC>CGC		zinc finger CCCH-type containing 3							49.0	57.0	54.0					8																	144589967		2202	4300	6502	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144589967G>C	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1664C>G	8.37:g.144589967G>C	ENSP00000262577:p.Pro555Arg						p.P555R	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		4	1693	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		555					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1664C>G	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193264	0.38707	.	.	ENSG00000014164	ENST00000262577;ENST00000528401	T	0.03441	3.93	5.73	2.78	0.32641	.	1.149070	0.06425	N	0.723100	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B	0.24823	0.112	B	0.19148	0.024	T	0.48927	-0.8991	10	0.38643	T	0.18	-7.6458	9.1621	0.37030	0.0:0.1294:0.5605:0.3101	.	555	Q8IXZ2	ZC3H3_HUMAN	R	555;15	ENSP00000262577:P555R	ENSP00000262577:P555R	P	-	2	0	ZC3H3	144661110	0.001000	0.12720	0.000000	0.03702	0.469000	0.32828	0.969000	0.29370	0.230000	0.21059	0.563000	0.77884	CCC		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		32	45	0	0	0	0	32	45				
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:32423392C>T	ENST00000309951.6	+	9	1184	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000379923.1_Missense_Mutation_p.P349L|ACO1_ENST00000541043.1_Missense_Mutation_p.P250L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398																																						uc003zqw.3		NA																	0					0						c.(1045-1047)CCT>CTT		aconitase 1							117.0	113.0	114.0					9																	32423392		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32423392C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1046C>T	9.37:g.32423392C>T	ENSP00000309477:p.Pro349Leu					ACO1_uc010mjh.1_Missense_Mutation_p.P183L|ACO1_uc003zqx.3_Missense_Mutation_p.P349L|ACO1_uc003zqy.3_RNA	p.P349L	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	9	1201	+			349					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1046C>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261284	0.39995	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.18960	2.18;2.18;2.18	6.17	4.33	0.51752	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.697247	0.15627	N	0.252613	T	0.20740	0.0499	L	0.43152	1.355	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.16722	0.009;0.016	T	0.18366	-1.0339	10	0.87932	D	0	2.1851	11.4911	0.50381	0.0:0.8057:0.126:0.0683	.	385;349	Q59FI0;P21399	.;ACOC_HUMAN	L	385;349;349;349;250	ENSP00000309477:P349L;ENSP00000369255:P349L;ENSP00000438733:P250L	ENSP00000309477:P349L	P	+	2	0	ACO1	32413392	0.002000	0.14202	0.137000	0.22149	0.994000	0.84299	1.858000	0.39408	0.923000	0.37045	0.655000	0.94253	CCT		0.398	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	43	0	0	0	0	6	43				
C9orf170	401535	broad.mit.edu	37	9	89771559	89771559	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:89771559T>C	ENST00000375941.2	+	2	327	c.240T>C	c.(238-240)tcT>tcC	p.S80S		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	80										large_intestine(3)|lung(2)|prostate(1)	6						ggagaaagtctgatttaggag	0.393																																						uc004apa.1		NA																	0					0						c.(238-240)TCT>TCC		hypothetical protein LOC401535							50.0	49.0	49.0					9																	89771559		2203	4300	6503	SO:0001819	synonymous_variant	401535							g.chr9:89771559T>C	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.240T>C	9.37:g.89771559T>C							p.S80S	NM_001001709	NP_001001709	A2RU37	CI170_HUMAN			2	327	+			80						Silent	SNP	ENST00000375941.2	37	c.240T>C	CCDS35058.1																																																																																				0.393	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		4	20	0	0	0	0	4	20				
AKAP2	11217	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:112900135G>A	ENST00000259318.7	+	2	1825	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	540										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGGAGAAGGCGTCTCCAAGTC	0.532																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3007-3009)GTC>ATC		A kinase (PRKA) anchor protein 2 isoform 2		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	75.0	71.0	72.0		1885,1618,1885,2311,2311	5.1	0.9	9	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	629/949,540/860,629/962,771/1104,771/1091	112900135	2,13004	2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900135G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1618G>A	9.37:g.112900135G>A	ENSP00000259318:p.Val540Ile					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.V771I|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.V771I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.V581I|AKAP2_uc011lwi.1_Missense_Mutation_p.V629I|AKAP2_uc004bem.2_Missense_Mutation_p.V629I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.V589I|AKAP2_uc011lwj.1_Missense_Mutation_p.V540I|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.V540I	p.V1003I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	3199	+			540					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3007G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093858	0.20471	0.0	2.33E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.46819	2.21;2.2;2.21;2.2;1.46;0.86;0.87;1.46	5.96	5.07	0.68467	.	0.439078	0.23935	N	0.043118	T	0.27241	0.0668	N	0.14661	0.345	0.23645	N	0.997213	B;B;B;B;B;B;B;B	0.21309	0.004;0.004;0.007;0.016;0.009;0.03;0.054;0.008	B;B;B;B;B;B;B;B	0.13407	0.002;0.003;0.003;0.009;0.004;0.007;0.007;0.003	T	0.15723	-1.0427	10	0.11182	T	0.66	-18.9163	10.4934	0.44764	0.1625:0.0:0.8375:0.0	.	540;629;623;629;630;771;771;589	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	771;771;771;771;629;629;589;540	ENSP00000363654:V771I;ENSP00000305861:V771I;ENSP00000451476:V771I;ENSP00000421522:V771I;ENSP00000404782:V629I;ENSP00000363649:V629I;ENSP00000419268:V589I;ENSP00000259318:V540I	ENSP00000259318:V540I	V	+	1	0	PALM2-AKAP2;AKAP2	111939956	0.796000	0.28864	0.950000	0.38849	0.901000	0.52897	1.402000	0.34600	1.511000	0.48818	0.655000	0.94253	GTC		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	46	0	0	0	0	5	46				
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I|RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403																																						uc004cxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(127-129)AGT>ATT		retinoblastoma binding protein 7							119.0	103.0	108.0					X																	16887232		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887232C>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.128G>T	X.37:g.16887232C>A	ENSP00000369427:p.Ser43Ile					RBBP7_uc004cxs.1_Missense_Mutation_p.S87I|RBBP7_uc004cxu.2_Missense_Mutation_p.S43I	p.S43I	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			2	486	-	Hepatocellular(33;0.0997)		43					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.128G>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132480	0.94473	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092	T;T;T	0.79845	-1.02;-1.31;-1.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	D	0.96083	0.9055	10	0.87932	D	0	-13.0947	16.8394	0.85964	0.0:1.0:0.0:0.0	.	43;43;87	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	I	43;87;43;9	ENSP00000369427:S43I;ENSP00000369424:S87I;ENSP00000386068:S43I	ENSP00000369424:S87I	S	-	2	0	RBBP7	16797153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.287000	0.76781	0.594000	0.82650	AGT		0.403	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		8	28	1	0	1.13e-05	1.25e-05	8	28				
RBBP7	5931	broad.mit.edu	37	X	16887237	16887237	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887237C>G	ENST00000380087.2	-	2	483	c.123G>C	c.(121-123)tgG>tgC	p.W41C	RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C|RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	41					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TAAGACTGGGCCACTGAAGAG	0.393																																						uc004cxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(121-123)TGG>TGC		retinoblastoma binding protein 7							122.0	106.0	111.0					X																	16887237		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887237C>G	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.123G>C	X.37:g.16887237C>G	ENSP00000369427:p.Trp41Cys					RBBP7_uc004cxs.1_Missense_Mutation_p.W85C|RBBP7_uc004cxu.2_Missense_Mutation_p.W41C	p.W41C	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			2	481	-	Hepatocellular(33;0.0997)		41					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.123G>C	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431871	0.83776	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092	T;D;T	0.83075	-1.36;-1.68;-1.38	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	H	0.98370	4.215	0.80722	D	1	P;D;D	0.61697	0.911;0.968;0.99	P;P;D	0.63957	0.887;0.887;0.92	D	0.96480	0.9355	10	0.66056	D	0.02	-24.198	16.8394	0.85964	0.0:1.0:0.0:0.0	.	41;41;85	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	C	41;85;41;7	ENSP00000369427:W41C;ENSP00000369424:W85C;ENSP00000386068:W41C	ENSP00000369424:W85C	W	-	3	0	RBBP7	16797158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.287000	0.76781	0.594000	0.82650	TGG		0.393	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		10	27	0	0	0	0	10	27				
DGKK	139189	broad.mit.edu	37	X	50119144	50119144	+	RNA	SNP	A	A	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:50119144A>T	ENST00000376025.2	-	0	3351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGCTGGTGGATCTTGCTCAG	0.478																																						uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(3292-3294)ATC>AAC		diacylglycerol kinase kappa							68.0	64.0	65.0					X																	50119144		2017	4164	6181			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119144A>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119144A>T							p.I1098N	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			25	3353	-	Ovarian(276;0.236)		1098					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.3293T>A																																																																																					0.478	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	4	0	0	0	0	6	4				
KLHL4	56062	broad.mit.edu	37	X	86877396	86877396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:86877396C>A	ENST00000373119.4	+	5	1255	c.1110C>A	c.(1108-1110)taC>taA	p.Y370*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	370						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCTTTCTTACATCAGACTGC	0.413																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1108-1110)TAC>TAA		kelch-like 4 isoform 1							157.0	129.0	139.0					X																	86877396		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86877396C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1110C>A	X.37:g.86877396C>A	ENSP00000362211:p.Tyr370*					KLHL4_uc004efa.2_Nonsense_Mutation_p.Y370*	p.Y370*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			5	1292	+			370					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.1110C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851664	0.91355	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	5.24	-3.55	0.04639	.	0.284143	0.35291	N	0.003303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	8.7108	0.34382	0.0984:0.4294:0.0:0.4723	.	.	.	.	X	370	.	ENSP00000362206:Y370X	Y	+	3	2	KLHL4	86764052	0.996000	0.38824	0.959000	0.39883	0.847000	0.48162	0.476000	0.22180	-0.774000	0.04590	-0.422000	0.05995	TAC		0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	34	1	0	0.00010058	0.000108858	10	34				
HCRTR1	3061	broad.mit.edu	37	1	32084929	32084931	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:32084929_32084931delGAG	ENST00000373706.5	+	1	289_291	c.136_138delGAG	c.(136-138)gagdel	p.E46del	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_In_Frame_Del_p.E46del|HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	46					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AAAACAGTATGAGTGGGTCCTCA	0.606																																						uc009vtx.2		NA																	0				ovary(1)	1						c.(136-138)GAGdel		orexin receptor 1																																				SO:0001651	inframe_deletion	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084929_32084931delGAG	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.136_138delGAG	1.37:g.32084929_32084931delGAG	ENSP00000362810:p.Glu46del					HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_In_Frame_Del_p.19_20MS>I|HCRTR1_uc001btd.2_In_Frame_Del_p.E46del|HCRTR1_uc010ogl.1_In_Frame_Del_p.E46del	p.E46del	NM_001525	NP_001516	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	3	521_523	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	46			Extracellular (Potential).		A8K3A6|Q9HBV6	In_Frame_Del	DEL	ENST00000373706.5	37	c.136_138delGAG	CCDS344.1																																																																																				0.606	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		27	110	NA	NA	NA	NA	27	110	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						uc001mwg.2		NA																	0				ovary(2)	2						c.(301-303)GGTfs		regeneration associated muscle protease isoform																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_uc001mwf.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.1_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.1_Frame_Shift_Ins_p.G61fs	p.G101fs	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			3	345_346	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		27	606	NA	NA	NA	NA	27	606	---	---	---	---
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cacfs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652																																						uc010wfp.1		NA																	0					0						c.(346-348)CACfs		keratin associated protein 4-9							25.0	30.0	29.0					17																	39261988		692	1591	2283	SO:0001589	frameshift_variant	100132386					keratin filament		g.chr17:39261988delC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.348delC	17.37:g.39261988delC	ENSP00000375234:p.His116fs						p.H116fs	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	348	+			116			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|18.			Frame_Shift_Del	DEL	ENST00000391415.1	37	c.348delC	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		8	12	NA	NA	NA	NA	8	12	---	---	---	---
LZTS3	9762	broad.mit.edu	37	20	3146179	3146179	+	Frame_Shift_Del	DEL	G	G	-	rs560824792		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:3146179delG	ENST00000329152.3	-	2	2684	c.1287delC	c.(1285-1287)gccfs	p.A429fs	LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A383fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A383fs			O60299	LZTS3_HUMAN		429						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GCAGGAAGTCGGCCTGCTCCT	0.662																																						uc002wia.1		NA																	0				pancreas(1)	1						c.(1285-1287)GCCfs		ProSAPiP1 protein							22.0	25.0	24.0					20																	3146179		2199	4297	6496	SO:0001589	frameshift_variant	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146179delG																												ENST00000329152.3:c.1287delC	20.37:g.3146179delG	ENSP00000332123:p.Ala429fs					ProSAPiP1_uc002wib.1_Frame_Shift_Del_p.A383fs	p.A429fs	NM_014731	NP_055546	O60299	PRIP1_HUMAN			2	2685	-			429			Potential.		A2A2Q7|D3DVX6|Q8IXX8	Frame_Shift_Del	DEL	ENST00000329152.3	37	c.1287delC	CCDS13049.1																																																																																				0.662	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			20	31	NA	NA	NA	NA	20	31	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1424634	1424636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:1424634_1424636delAGA	ENST00000446702.2	+	18	2802_2804	c.2175_2177delAGA	c.(2173-2178)ccagaa>cca	p.E727del	CNTN6_ENST00000350110.2_In_Frame_Del_p.E727del|CNTN6_ENST00000539053.1_In_Frame_Del_p.E655del			Q9UQ52	CNTN6_HUMAN	contactin 6	727	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTCAATTCCAGAAGAACTGCAG	0.384																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2173-2178)CCAGAA>CCA		contactin 6 precursor																																				SO:0001651	inframe_deletion	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424634_1424636delAGA	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2175_2177delAGA	3.37:g.1424637_1424639delAGA	ENSP00000407822:p.Glu727del					CNTN6_uc011asj.1_In_Frame_Del_p.E655del|CNTN6_uc003bpa.2_In_Frame_Del_p.E727del	p.E727del	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2442_2444	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	727			Fibronectin type-III 2.		Q2KHM2	In_Frame_Del	DEL	ENST00000446702.2	37	c.2175_2177delAGA	CCDS2557.1																																																																																				0.384	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		12	29	NA	NA	NA	NA	12	29	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2182-2184)GCCfs		zinc finger, MIZ-type containing 2 isoform 1			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_uc003tlq.2_Frame_Shift_Ins_p.A670fs|ZMIZ2_uc003tls.2_Frame_Shift_Ins_p.A702fs|ZMIZ2_uc003tlt.2_Frame_Shift_Ins_p.A351fs|ZMIZ2_uc010kyj.2_Frame_Shift_Ins_p.A250fs|ZMIZ2_uc003tlu.2_5'Flank	p.A728fs	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		3	6	NA	NA	NA	NA	3	6	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:446516_446517insCA	ENST00000453981.1	+	44	5839_5840	c.5727_5728insCA	c.(5728-5730)catfs	p.H1910fs	DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.H1842fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.H1810fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.H1377fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAGAGCTGCATGAGCAGTA	0.545																																						uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(5725-5730)CTGCATfs		dedicator of cytokinesis 8																																				SO:0001589	frameshift_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:446516_446517insCA	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5728_5729dupCA	9.37:g.446517_446518dupCA	ENSP00000408464:p.His1910fs					DOCK8_uc010mgu.2_Frame_Shift_Ins_p.L1211fs|DOCK8_uc010mgv.2_Frame_Shift_Ins_p.L1809fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.L1367fs	p.L1909fs	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	44	5839_5840	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1909_1910					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	c.5727_5728insCA	CCDS6440.2																																																																																				0.545	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		12	52	NA	NA	NA	NA	12	52	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttgcacagcgag>ttg	p.HSE511del		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	511					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445																																						uc004amn.2		NA																	0					0						c.(1528-1539)TTGCACAGCGAG>TTG		hypothetical protein LOC389763																																				SO:0001651	inframe_deletion	389763					integral to membrane		g.chr9:84606915_84606923delGCACAGCGA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1530_1538delGCACAGCGA	9.37:g.84606915_84606923delGCACAGCGA	ENSP00000341988:p.His511_Glu513del						p.HSE511del	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1577_1585	+			511_513						In_Frame_Del	DEL	ENST00000344803.2	37	c.1530_1538delGCACAGCGA	CCDS47986.1																																																																																				0.445	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	29	NA	NA	NA	NA	8	29	---	---	---	---
