#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
EIF3I	8668	broad.mit.edu	37	1	32696783	32696783	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:32696783G>A	ENST00000373586.1	+	11	1036	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTTCGAATTTGAGTTTGAGGC	0.527																																					Colon(102;1138 2140 2180 17876)	uc001bur.3		NA																	0				ovary(1)	1						c.(964-966)GAG>AAG		eukaryotic translation initiation factor 3,							69.0	67.0	68.0					1																	32696783		2203	4300	6503	SO:0001583	missense	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32696783G>A	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.964G>A	1.37:g.32696783G>A	ENSP00000362688:p.Glu322Lys					EIF3I_uc009vuc.2_Missense_Mutation_p.E322K|EIF3I_uc001bus.2_Missense_Mutation_p.E274K	p.E322K	NM_003757	NP_003748	Q13347	EIF3I_HUMAN			12	1497	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	322			WD 5.			Missense_Mutation	SNP	ENST00000373586.1	37	c.964G>A	CCDS357.1	.	.	.	.	.	.	.	.	.	.	G	4.930	0.172876	0.09391	.	.	ENSG00000084623	ENST00000373586	T	0.41400	1.0	4.47	4.47	0.54385	WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	N	0.01729	-0.75	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.20174	-1.0283	10	0.02654	T	1	-22.6029	17.501	0.87732	0.0:0.0:1.0:0.0	.	322	Q13347	EIF3I_HUMAN	K	322	ENSP00000362688:E322K	ENSP00000362688:E322K	E	+	1	0	EIF3I	32469370	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	9.748000	0.98867	2.224000	0.72417	0.313000	0.20887	GAG		0.527	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757		8	35	0	0	0	0	8	35				
MAST2	23139	broad.mit.edu	37	1	46476424	46476424	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:46476424G>A	ENST00000361297.2	+	10	1284	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATGGAAGAGCGACTAGCAGAG	0.502																																						uc001cov.2		NA																	0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(1000-1002)CGA>CAA		microtubule associated serine/threonine kinase							72.0	69.0	70.0					1																	46476424		1936	4133	6069	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46476424G>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1001G>A	1.37:g.46476424G>A	ENSP00000354671:p.Arg334Gln					MAST2_uc001cow.2_Missense_Mutation_p.R334Q|MAST2_uc001coy.1_Missense_Mutation_p.R42Q|MAST2_uc001coz.1_Missense_Mutation_p.R219Q|MAST2_uc009vya.2_Missense_Mutation_p.R256Q|MAST2_uc001cpa.2_Intron	p.R334Q	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			10	1284	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		334						Missense_Mutation	SNP	ENST00000361297.2	37	c.1001G>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272208	0.95429	.	.	ENSG00000086015	ENST00000361297;ENST00000432341;ENST00000372008	T;T	0.36340	1.26;1.26	5.6	4.68	0.58851	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.49126	1.545	0.80722	D	1	B;B;D	0.76494	0.332;0.332;0.999	B;B;D	0.70935	0.315;0.315;0.971	T	0.56366	-0.7991	10	0.66056	D	0.02	-5.8624	14.8522	0.70306	0.0696:0.0:0.9304:0.0	.	42;42;334	B3KU51;E7EWL1;Q6P0Q8	.;.;MAST2_HUMAN	Q	334;42;219	ENSP00000354671:R334Q;ENSP00000361078:R219Q	ENSP00000354671:R334Q	R	+	2	0	MAST2	46249011	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	5.773000	0.68898	1.358000	0.45922	0.561000	0.74099	CGA		0.502	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		7	33	0	0	0	0	7	33				
ECHDC2	55268	broad.mit.edu	37	1	53370495	53370495	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:53370495C>T	ENST00000371522.4	-	7	618	c.525G>A	c.(523-525)caG>caA	p.Q175Q	ECHDC2_ENST00000358358.5_Silent_p.Q144Q|ECHDC2_ENST00000536120.1_Silent_p.Q129Q	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	175					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGGGCAGCCTCTGAGTCCCTC	0.622																																						uc001cup.3		NA																	0				central_nervous_system(1)	1						c.(523-525)CAG>CAA		enoyl Coenzyme A hydratase domain containing 2							29.0	29.0	29.0					1																	53370495		2203	4299	6502	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370495C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.525G>A	1.37:g.53370495C>T						ECHDC2_uc001cun.2_Silent_p.Q98Q|ECHDC2_uc001cuo.3_Silent_p.Q144Q|ECHDC2_uc010onk.1_Silent_p.Q129Q	p.Q175Q	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN			7	771	-			175					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.525G>A	CCDS55600.1																																																																																				0.622	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		9	26	0	0	0	0	9	26				
PGM1	5236	broad.mit.edu	37	1	64095639	64095639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:64095639A>T	ENST00000371084.3	+	3	649	c.436A>T	c.(436-438)Aaa>Taa	p.K146*	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371083.4_Nonsense_Mutation_p.K164*	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	146					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATAACTGATAAAATTTTCCA	0.418																																						uc001dbh.2		NA																	0				ovary(2)|kidney(1)	3						c.(436-438)AAA>TAA		phosphoglucomutase 1							105.0	101.0	102.0					1																	64095639		2203	4300	6503	SO:0001587	stop_gained	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64095639A>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.436A>T	1.37:g.64095639A>T	ENSP00000360125:p.Lys146*					PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Nonsense_Mutation_p.K164*	p.K146*	NM_002633	NP_002624	P36871	PGM1_HUMAN			3	649	+			146					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Nonsense_Mutation	SNP	ENST00000371084.3	37	c.436A>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	A	39	7.605196	0.98384	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000371083	.	.	.	5.24	5.24	0.73138	.	0.049089	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1535	15.4457	0.75228	1.0:0.0:0.0:0.0	.	.	.	.	X	122;146;164	.	ENSP00000360124:K164X	K	+	1	0	PGM1	63868227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.108000	0.64289	0.460000	0.39030	AAA		0.418	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		17	53	0	0	0	0	17	53				
ERICH3	127254	broad.mit.edu	37	1	75078403	75078403	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:75078403G>A	ENST00000326665.5	-	9	1309	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S167F	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		364										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCACAACAGGAGCTTAACCT	0.443																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1090-1092)TCC>TTC		hypothetical protein LOC127254							108.0	102.0	104.0					1																	75078403		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75078403G>A																												ENST00000326665.5:c.1091C>T	1.37:g.75078403G>A	ENSP00000322609:p.Ser364Phe					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S158F	p.S364F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			9	1310	-			364					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1091C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047125	0.93740	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.30182	1.96;1.54	5.63	5.63	0.86233	.	.	.	.	.	T	0.52789	0.1756	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.54536	-0.8279	9	0.87932	D	0	-11.0421	19.649	0.95793	0.0:0.0:1.0:0.0	.	167;364	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	F	364;167	ENSP00000322609:S364F;ENSP00000398581:S167F	ENSP00000322609:S364F	S	-	2	0	C1orf173	74850991	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.267000	0.65530	2.808000	0.96608	0.655000	0.94253	TCC		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			8	33	0	0	0	0	8	33				
SAMD13	148418	broad.mit.edu	37	1	84768891	84768891	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:84768891G>C	ENST00000370671.3	+	2	93	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	SAMD13_ENST00000370668.3_5'UTR|SAMD13_ENST00000370670.2_5'UTR|SAMD13_ENST00000394834.3_5'UTR|SAMD13_ENST00000370673.3_Missense_Mutation_p.E6Q|SAMD13_ENST00000370669.1_5'UTR			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	12										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		ATTAGTTGCTGAAGTAAAGGA	0.388																																						uc001djr.2		NA																	0					0						c.(16-18)GAA>CAA		sterile alpha motif domain containing 13 isoform							79.0	74.0	76.0					1																	84768891		2203	4300	6503	SO:0001583	missense	148418							g.chr1:84768891G>C		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.34G>C	1.37:g.84768891G>C	ENSP00000359705:p.Glu12Gln					SAMD13_uc010orw.1_5'UTR|SAMD13_uc010orx.1_5'UTR	p.E6Q	NM_001010971	NP_001010971	Q5VXD3	SAM13_HUMAN		all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)	2	208	+			12					B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	ENST00000370671.3	37	c.16G>C		.	.	.	.	.	.	.	.	.	.	G	12.95	2.090897	0.36855	.	.	ENSG00000203943	ENST00000370673;ENST00000370671	.	.	.	5.34	5.34	0.76211	.	0.626869	0.15305	N	0.269421	T	0.20536	0.0494	N	0.14661	0.345	0.80722	D	1	P	0.40476	0.718	B	0.33121	0.158	T	0.06215	-1.0839	9	0.24483	T	0.36	-15.205	16.3398	0.83078	0.0:0.0:1.0:0.0	.	6	Q5VXD3-2	.	Q	6;12	.	ENSP00000359705:E12Q	E	+	1	0	SAMD13	84541479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.108000	0.71522	2.657000	0.90304	0.655000	0.94253	GAA		0.388	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		12	34	0	0	0	0	12	34				
HS2ST1	9653	broad.mit.edu	37	1	87538634	87538634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:87538634C>T	ENST00000370550.5	+	2	505	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	HS2ST1_ENST00000370551.4_Missense_Mutation_p.H48Y|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.H22Y|HS2ST1_ENST00000356813.4_Missense_Mutation_p.H22Y	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	48					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TATTGCAAGACACGAAGTCCG	0.408																																						uc010osk.1		NA																	0				central_nervous_system(1)	1						c.(142-144)CAC>TAC		heparan sulfate 2-O-sulfotransferase 1 isoform							66.0	61.0	63.0					1																	87538634		2203	4300	6503	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87538634C>T	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.142C>T	1.37:g.87538634C>T	ENSP00000359581:p.His48Tyr					HS2ST1_uc001dmc.3_Missense_Mutation_p.H48Y|LOC339524_uc001dme.1_Missense_Mutation_p.H9Y	p.H48Y	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	2	527	+		Lung NSC(277;0.153)	48			Lumenal (Potential).		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.142C>T	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959376	0.53400	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.09	4.18	0.49190	.	0.100224	0.64402	D	0.000001	T	0.46229	0.1382	L	0.29908	0.895	0.80722	D	1	D;D	0.60575	0.967;0.988	B;P	0.55345	0.439;0.774	T	0.41928	-0.9481	9	0.30078	T	0.28	-14.1824	15.7249	0.77747	0.0:0.863:0.137:0.0	.	48;22	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	Y	48;48;22;22	.	ENSP00000349268:H22Y	H	+	1	0	HS2ST1	87311222	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	1.347000	0.45714	0.563000	0.77884	CAC		0.408	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262		9	19	0	0	0	0	9	19				
TRIM45	80263	broad.mit.edu	37	1	117661121	117661121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:117661121C>G	ENST00000256649.4	-	2	1283	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	TRIM45_ENST00000369461.3_Missense_Mutation_p.E196Q|TRIM45_ENST00000369464.3_Missense_Mutation_p.E253Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	253					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567																																						uc001egz.2		NA																	0				central_nervous_system(1)	1						c.(757-759)GAG>CAG		tripartite motif-containing 45 isoform 1							59.0	60.0	60.0					1																	117661121		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117661121C>G		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.757G>C	1.37:g.117661121C>G	ENSP00000256649:p.Glu253Gln					TRIM45_uc009whe.2_Missense_Mutation_p.E253Q|TRIM45_uc001eha.2_Missense_Mutation_p.E149Q	p.E253Q	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1345	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	253					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.757G>C	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866335	0.51588	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.86865	-2.18;-2.18;-2.18	5.32	4.4	0.53042	.	0.154140	0.56097	N	0.000021	D	0.88522	0.6459	M	0.62723	1.935	0.52099	D	0.999946	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.919	D	0.86552	0.1835	10	0.20519	T	0.43	-26.376	15.2681	0.73678	0.0:0.8595:0.1405:0.0	.	253;253	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	Q	253;253;196	ENSP00000256649:E253Q;ENSP00000358476:E253Q;ENSP00000358473:E196Q	ENSP00000256649:E253Q	E	-	1	0	TRIM45	117462644	1.000000	0.71417	0.997000	0.53966	0.485000	0.33311	3.413000	0.52686	1.466000	0.48025	0.655000	0.94253	GAG		0.567	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		10	52	0	0	0	0	10	52				
NBPF10	100132406	broad.mit.edu	37	1	145301725	145301725	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:145301725G>A	ENST00000369339.3	+	4	434	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E332K|NBPF10_ENST00000369338.1_Missense_Mutation_p.E61K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	332						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		CTCAGAATATGAAGAGTGCAA	0.507																																						uc001end.3		NA																	0					0						c.(994-996)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145301725G>A	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.181G>A	1.37:g.145301725G>A	ENSP00000358345:p.Glu61Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E332K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.E61K	p.E332K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	7	1029	+	all_hematologic(923;0.032)		332					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.994G>A		.	.	.	.	.	.	.	.	.	.	.	12.23	1.876904	0.33162	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.09255	3.0;4.05	0.616	0.616	0.17613	.	.	.	.	.	T	0.09992	0.0245	L	0.58101	1.795	0.09310	N	1	P;P	0.49696	0.874;0.927	B;P	0.56563	0.395;0.801	T	0.12116	-1.0560	8	0.59425	D	0.04	.	.	.	.	.	61;61	A8MQ30;Q86T75-2	.;.	K	257;61;61;332	ENSP00000358344:E61K;ENSP00000345684:E332K	ENSP00000345684:E332K	E	+	1	0	NBPF10	144013082	0.114000	0.22134	0.008000	0.14137	0.145000	0.21501	0.737000	0.26144	0.608000	0.30000	0.162000	0.16502	GAA		0.507	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		33	385	0	0	0	0	33	385				
SEMA4A	64218	broad.mit.edu	37	1	156128225	156128225	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:156128225C>T	ENST00000368285.3	+	5	677	c.410C>T	c.(409-411)aCc>aTc	p.T137I	SEMA4A_ENST00000355014.2_Missense_Mutation_p.T137I|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T137I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	137	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TACAATGTCACCCATCTCTAC	0.532																																						uc001fnl.2		NA																	0				ovary(1)|skin(1)	2						c.(409-411)ACC>ATC		semaphorin B precursor							214.0	197.0	203.0					1																	156128225		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156128225C>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.410C>T	1.37:g.156128225C>T	ENSP00000357268:p.Thr137Ile					SEMA4A_uc009wrq.2_Missense_Mutation_p.T137I|SEMA4A_uc001fnm.2_Missense_Mutation_p.T137I|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Missense_Mutation_p.T137I	p.T137I	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			5	514	+	Hepatocellular(266;0.158)		137			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.410C>T	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796245	0.70567	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000368282	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	4.38	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.126142	0.50627	D	0.000103	T	0.41627	0.1167	M	0.80746	2.51	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.43750	-0.9372	10	0.87932	D	0	.	11.675	0.51424	0.0:0.8204:0.1796:0.0	.	137	Q9H3S1	SEM4A_HUMAN	I	137;38;137;137;99;99;137	ENSP00000401391:T137I;ENSP00000399230:T38I;ENSP00000347117:T137I;ENSP00000357268:T137I;ENSP00000357265:T137I	ENSP00000347117:T137I	T	+	2	0	SEMA4A	154394849	1.000000	0.71417	0.973000	0.42090	0.874000	0.50279	3.408000	0.52651	2.259000	0.74868	0.305000	0.20034	ACC		0.532	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		32	130	0	0	0	0	32	130				
OR10K2	391107	broad.mit.edu	37	1	158390345	158390345	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:158390345G>A	ENST00000314902.2	-	1	311	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAAGGAAGAGGAAGGAAAACA	0.488																																						uc010pii.1		NA																	0				pancreas(1)	1						c.(310-312)TTC>TTT		olfactory receptor, family 10, subfamily K,							179.0	177.0	178.0					1																	158390345		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390345G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.312C>T	1.37:g.158390345G>A							p.F104F	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	312	-	all_hematologic(112;0.0378)		104			Helical; Name=3; (Potential).			Silent	SNP	ENST00000314902.2	37	c.312C>T	CCDS30896.1																																																																																				0.488	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		12	102	0	0	0	0	12	102				
F5	2153	broad.mit.edu	37	1	169484729	169484729	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:169484729C>T	ENST00000367797.3	-	24	6682	c.6481G>A	c.(6481-6483)Gga>Aga	p.G2161R	F5_ENST00000367796.3_Missense_Mutation_p.G2166R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2161	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CATTCCACTCCCTGCTCACTG	0.443																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6481-6483)GGA>AGA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						243.0	230.0	234.0					1																	169484729		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169484729C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6481G>A	1.37:g.169484729C>T	ENSP00000356771:p.Gly2161Arg						p.G2161R	NM_000130	NP_000121	P12259	FA5_HUMAN			24	6626	-	all_hematologic(923;0.208)		2161			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6481G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658828	0.88154	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99023	-5.34;-5.34	5.77	5.77	0.91146	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99852	1.1073	10	0.87932	D	0	-19.707	19.58	0.95464	0.0:1.0:0.0:0.0	.	2161	P12259	FA5_HUMAN	R	2161;2166	ENSP00000356771:G2161R;ENSP00000356770:G2166R	ENSP00000356770:G2166R	G	-	1	0	F5	167751353	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.455000	0.73497	2.720000	0.93068	0.591000	0.81541	GGA		0.443	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		30	148	0	0	0	0	30	148				
ANGPTL1	9068	broad.mit.edu	37	1	178834726	178834726	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:178834726C>T	ENST00000234816.2	-	3	633	c.186G>A	c.(184-186)ggG>ggA	p.G62G	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G62G	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	62					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CACAGATTGGCCCTGTTATTC	0.443																																						uc001gma.2		NA																	0					0						c.(184-186)GGG>GGA		angiopoietin-like 1 precursor							259.0	188.0	212.0					1																	178834726		2203	4300	6503	SO:0001819	synonymous_variant	9068					extracellular space	receptor binding	g.chr1:178834726C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.186G>A	1.37:g.178834726C>T						RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Silent_p.G62G|ANGPTL1_uc010pnc.1_Intron	p.G62G	NM_004673	NP_004664	O95841	ANGL1_HUMAN			3	662	-			62					Q5T5Z5	Silent	SNP	ENST00000234816.2	37	c.186G>A	CCDS1327.1																																																																																				0.443	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		3	47	0	0	0	0	3	47				
HMCN1	83872	broad.mit.edu	37	1	185953402	185953402	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:185953402C>T	ENST00000271588.4	+	19	3121	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	HMCN1_ENST00000367492.2_Silent_p.N964N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	964	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCCAGTAACGTTGCTGGGA	0.433																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(2890-2892)AAC>AAT		hemicentin 1 precursor							216.0	206.0	209.0					1																	185953402		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185953402C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2892C>T	1.37:g.185953402C>T						HMCN1_uc001grr.1_Silent_p.N305N	p.N964N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			19	3121	+			964			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.2892C>T	CCDS30956.1																																																																																				0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		19	114	0	0	0	0	19	114				
ASPM	259266	broad.mit.edu	37	1	197060123	197060123	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:197060123G>C	ENST00000367409.4	-	23	9749	c.9493C>G	c.(9493-9495)Cat>Gat	p.H3165D	ASPM_ENST00000367408.1_Missense_Mutation_p.H830D|ASPM_ENST00000294732.7_Missense_Mutation_p.H1580D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3165					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATGCTATGATATTTCTGA	0.353																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(9493-9495)CAT>GAT		asp (abnormal spindle)-like, microcephaly							94.0	92.0	93.0					1																	197060123		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060123G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9493C>G	1.37:g.197060123G>C	ENSP00000356379:p.His3165Asp					ASPM_uc001gtv.2_Missense_Mutation_p.H1580D|ASPM_uc001gtw.3_Missense_Mutation_p.H1013D	p.H3165D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			23	9750	-			3165					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9493C>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833391	0.16820	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.58358	0.34;1.65;1.32	4.74	1.74	0.24563	.	1.008970	0.07952	N	0.980975	T	0.43033	0.1229	L	0.43152	1.355	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.14023	0.001;0.001;0.01	T	0.32428	-0.9907	10	0.36615	T	0.2	.	6.2887	0.21047	0.1593:0.2839:0.5568:0.0	.	1151;1580;3165	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	D	3165;1580;830;1151	ENSP00000356379:H3165D;ENSP00000294732:H1580D;ENSP00000356378:H830D	ENSP00000294732:H1580D	H	-	1	0	ASPM	195326746	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	0.388000	0.20735	0.176000	0.19873	0.478000	0.44815	CAT		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	58	0	0	0	0	9	58				
NAV1	89796	broad.mit.edu	37	1	201789046	201789046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:201789046C>T	ENST00000367296.4	+	30	6040	c.5620C>T	c.(5620-5622)Cag>Tag	p.Q1874*	NAV1_ENST00000367295.1_Nonsense_Mutation_p.Q1480*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.Q1827*|IPO9-AS1_ENST00000421159.1_RNA|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367300.3_Nonsense_Mutation_p.Q1814*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Nonsense_Mutation_p.Q1866*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.Q1871*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1874					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCAACCTTCAGGCAACACT	0.522																																						uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(5611-5613)CAG>TAG		neuron navigator 1							117.0	97.0	104.0					1																	201789046		2203	4300	6503	SO:0001587	stop_gained	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201789046C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5620C>T	1.37:g.201789046C>T	ENSP00000356265:p.Gln1874*					NAV1_uc001gwx.2_Nonsense_Mutation_p.Q1480*	p.Q1871*	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			29	5958	+			1874					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	37	c.5611C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	47	13.853778	0.99766	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	.	.	.	5.81	5.81	0.92471	.	0.219799	0.33005	N	0.005384	.	.	.	.	.	.	0.31067	N	0.713468	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.3411	14.512	0.67794	0.1468:0.8532:0.0:0.0	.	.	.	.	X	1827;1874;1871;1866;1814;1480;257	.	ENSP00000295624:Q1871X	Q	+	1	0	NAV1	200055669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.362000	0.52314	2.745000	0.94114	0.655000	0.94253	CAG		0.522	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		6	60	0	0	0	0	6	60				
USH2A	7399	broad.mit.edu	37	1	216373392	216373392	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:216373392C>T	ENST00000307340.3	-	17	3774	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	USH2A_ENST00000366943.2_Missense_Mutation_p.V1130M|USH2A_ENST00000366942.3_Missense_Mutation_p.V1130M|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1130	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACCATGCACATTGGTGGTC	0.363										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3388-3390)GTG>ATG		usherin isoform B							85.0	83.0	84.0					1																	216373392		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373392C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3388G>A	1.37:g.216373392C>T	ENSP00000305941:p.Val1130Met	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.V1130M	p.V1130M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	3775	-			1130			Extracellular (Potential).|Fibronectin type-III 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3388G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198451	0.38806	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.85013	-1.93;0.57;0.38	6.02	1.98	0.26296	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.606642	0.13780	N	0.363260	D	0.89546	0.6746	M	0.77820	2.39	0.21984	N	0.99944	D;D	0.89917	0.998;1.0	P;D	0.87578	0.896;0.998	T	0.77507	-0.2562	10	0.46703	T	0.11	.	3.1435	0.06463	0.2207:0.5078:0.1074:0.1642	.	1130;1130	O75445-2;O75445	.;USH2A_HUMAN	M	1130	ENSP00000305941:V1130M;ENSP00000355910:V1130M;ENSP00000355909:V1130M	ENSP00000305941:V1130M	V	-	1	0	USH2A	214440015	0.288000	0.24324	0.009000	0.14445	0.329000	0.28539	0.919000	0.28692	0.115000	0.18071	0.655000	0.94253	GTG		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	72	0	0	0	0	19	72				
MIA3	375056	broad.mit.edu	37	1	222832101	222832101	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:222832101G>C	ENST00000344922.5	+	19	4670	c.4645G>C	c.(4645-4647)Gag>Cag	p.E1549Q	MIA3_ENST00000340535.7_Missense_Mutation_p.E427Q|MIA3_ENST00000344441.6_Missense_Mutation_p.E1549Q|MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1549					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAAGAAAGAGAGCACAGGCT	0.423																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(4645-4647)GAG>CAG		melanoma inhibitory activity family, member 3							182.0	184.0	184.0					1																	222832101		1922	4125	6047	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222832101G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4645G>C	1.37:g.222832101G>C	ENSP00000340900:p.Glu1549Gln					MIA3_uc001hnm.2_Missense_Mutation_p.E427Q	p.E1549Q	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	19	4654	+			1549			Cytoplasmic (Potential).|Potential.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4645G>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798550	0.90538	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.53423	1.57;1.57;0.62	5.8	5.8	0.92144	.	.	.	.	.	T	0.71204	0.3312	M	0.87758	2.905	0.50632	D	0.999889	P;D	0.67145	0.916;0.996	P;P	0.60682	0.654;0.878	T	0.70357	-0.4894	9	0.32370	T	0.25	.	20.0291	0.97531	0.0:0.0:1.0:0.0	.	427;1549	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	Q	1549;1549;1490;427;427	ENSP00000340900:E1549Q;ENSP00000340587:E1549Q;ENSP00000345866:E427Q	ENSP00000284471:E427Q	E	+	1	0	MIA3	220898724	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	6.499000	0.73683	2.729000	0.93468	0.655000	0.94253	GAG		0.423	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		3	186	0	0	0	0	3	186				
OR2M7	391196	broad.mit.edu	37	1	248487682	248487682	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:248487682G>A	ENST00000317965.2	-	1	217	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTTGGCTGAGGAGGAAGT	0.527																																						uc010pzk.1		NA																	0				skin(2)	2						c.(187-189)CTC>CTT		olfactory receptor, family 2, subfamily M,							296.0	281.0	286.0					1																	248487682		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487682G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.189C>T	1.37:g.248487682G>A							p.L63L	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	189	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		63			Helical; Name=2; (Potential).		B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.189C>T	CCDS31111.1																																																																																				0.527	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		45	246	0	0	0	0	45	246				
ZNF37A	7587	broad.mit.edu	37	10	38407109	38407109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:38407109C>T	ENST00000361085.5	+	7	1375	c.1030C>T	c.(1030-1032)Caa>Taa	p.Q344*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.Q344*	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AACCCTTACTCAACATCAAAG	0.398																																						uc001izk.2		NA																	0				breast(1)	1						c.(1030-1032)CAA>TAA		zinc finger protein 37a							97.0	101.0	100.0					10																	38407109		2203	4300	6503	SO:0001587	stop_gained	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407109C>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1030C>T	10.37:g.38407109C>T	ENSP00000354377:p.Gln344*					ZNF37A_uc001izl.2_Nonsense_Mutation_p.Q344*|ZNF37A_uc001izm.2_Nonsense_Mutation_p.Q344*	p.Q344*	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	1849	+			344			C2H2-type 5.		B3KRQ3|D3DRZ3|Q96B88	Nonsense_Mutation	SNP	ENST00000361085.5	37	c.1030C>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103625	0.94245	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	.	.	.	1.78	0.803	0.18691	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.1542	0.25628	0.2678:0.7322:0.0:0.0	.	.	.	.	X	344	.	ENSP00000329141:Q344X	Q	+	1	0	ZNF37A	38447115	0.000000	0.05858	0.902000	0.35471	0.984000	0.73092	-1.937000	0.01547	0.283000	0.22279	0.591000	0.81541	CAA		0.398	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		11	74	0	0	0	0	11	74				
RBP3	5949	broad.mit.edu	37	10	48388281	48388281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:48388281G>A	ENST00000224600.4	-	1	2710	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	866	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCCAATGACCGTGGCCCGCTG	0.637																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2596-2598)ACG>ATG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						18.0	20.0	19.0					10																	48388281		2200	4292	6492	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388281G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2597C>T	10.37:g.48388281G>A	ENSP00000224600:p.Thr866Met						p.T866M	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2711	-			866			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2597C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045783	0.55110	.	.	ENSG00000107618	ENST00000224600	T	0.67171	-0.25	5.35	5.35	0.76521	Interphotoreceptor retinol-binding (2);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84190	0.0444	10	0.87932	D	0	-23.8423	18.0569	0.89366	0.0:0.0:1.0:0.0	.	866	P10745	RET3_HUMAN	M	866	ENSP00000224600:T866M	ENSP00000224600:T866M	T	-	2	0	RBP3	48008287	1.000000	0.71417	0.954000	0.39281	0.930000	0.56654	7.329000	0.79170	2.526000	0.85167	0.561000	0.74099	ACG		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	34	0	0	0	0	6	34				
MCU	90550	broad.mit.edu	37	10	74628472	74628472	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:74628472C>T	ENST00000373053.3	+	5	529	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	MCU_ENST00000536019.1_Missense_Mutation_p.H121Y|MCU_ENST00000357157.6_Intron	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	170					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTTAAGTCATGAAAATGC	0.383																																						uc001jtc.2		NA																	0					0						c.(508-510)CAT>TAT		coiled-coil domain containing 109A							83.0	79.0	80.0					10																	74628472		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74628472C>T	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.508C>T	10.37:g.74628472C>T	ENSP00000362144:p.His170Tyr					CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Intron|CCDC109A_uc001jtd.2_Missense_Mutation_p.H121Y	p.H170Y	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			5	529	+	Prostate(51;0.0198)		170			Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.508C>T	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	C	4.868	0.161296	0.09287	.	.	ENSG00000156026	ENST00000373053;ENST00000536019	T;T	0.21932	1.98;2.0	5.76	4.86	0.63082	Coiled-coil domain containing protein 109, C-terminal (1);	0.092295	0.85682	D	0.000000	T	0.19327	0.0464	L	0.55481	1.735	0.58432	D	0.999994	B;B	0.23128	0.02;0.08	B;B	0.23018	0.017;0.043	T	0.06320	-1.0833	10	0.02654	T	1	-10.4575	15.0701	0.72030	0.0:0.9317:0.0:0.0683	.	121;170	Q8NE86-3;Q8NE86	.;MCU_HUMAN	Y	170;121	ENSP00000362144:H170Y;ENSP00000440913:H121Y	ENSP00000362144:H170Y	H	+	1	0	MCU	74298478	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	3.171000	0.50824	1.433000	0.47394	0.650000	0.86243	CAT		0.383	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		14	74	0	0	0	0	14	74				
KCNMA1	3778	broad.mit.edu	37	10	78846273	78846273	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:78846273G>A	ENST00000286628.8	-	11	1412	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	KCNMA1_ENST00000406533.3_Silent_p.L471L|KCNMA1_ENST00000372440.1_Silent_p.L471L|KCNMA1_ENST00000372443.1_Silent_p.L471L|KCNMA1_ENST00000404857.1_Silent_p.L471L|KCNMA1_ENST00000286627.5_Silent_p.L471L|KCNMA1_ENST00000404771.3_Silent_p.L471L|KCNMA1_ENST00000354353.5_Silent_p.L471L|KCNMA1_ENST00000484507.1_5'Flank	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	471	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CATGTGGATTGAGGACGGAAC	0.483																																						uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1411-1413)CTC>CTT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116.0	113.0	114.0					10																	78846273		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78846273G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1413C>T	10.37:g.78846273G>A						KCNMA1_uc001jxj.2_Silent_p.L471L|KCNMA1_uc001jxk.1_Silent_p.L86L|KCNMA1_uc009xrt.1_Silent_p.L291L|KCNMA1_uc001jxl.1_Silent_p.L125L|KCNMA1_uc001jxo.2_Silent_p.L471L|KCNMA1_uc001jxm.2_Silent_p.L471L|KCNMA1_uc001jxq.2_Silent_p.L471L	p.L471L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		11	1590	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		471			RCK N-terminal.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.1413C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.891|9.891	1.204316|1.204316	0.22205|0.22205	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70842	.|0.3270	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68198	.|-0.5472	.|4	.|.	.|.	.|.	-13.9125|-13.9125	14.129|14.129	0.65240|0.65240	0.0765:0.0:0.9235:0.0|0.0765:0.0:0.9235:0.0	.|.	.|.	.|.	.|.	X|L	460;150|422	.|.	.|.	Q|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78516279|78516279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.663000|5.663000	0.68038|0.68038	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.483	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		10	49	0	0	0	0	10	49				
PSD	5662	broad.mit.edu	37	10	104172143	104172143	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104172143G>A	ENST00000020673.5	-	6	2269	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	PSD_ENST00000406432.1_Silent_p.G581G	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	581	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTTACTTCTTGCCCAGGTGCC	0.602																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(1741-1743)GGC>GGT		pleckstrin and Sec7 domain containing							58.0	52.0	54.0					10																	104172143		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104172143G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1743C>T	10.37:g.104172143G>A						PSD_uc001kvh.1_Silent_p.G202G|PSD_uc009xxd.1_Silent_p.G581G	p.G581G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	6	2270	-			581			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.1743C>T	CCDS31272.1																																																																																				0.602	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			4	43	0	0	0	0	4	43				
CUEDC2	79004	broad.mit.edu	37	10	104184420	104184420	+	Silent	SNP	G	G	A	rs369016562		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104184420G>A	ENST00000369937.4	-	3	349	c.204C>T	c.(202-204)ttC>ttT	p.F68F	CUEDC2_ENST00000465409.1_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	68						cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGATGTGGGCGAAGCCAGGCA	0.597																																						uc001kvn.2		NA																	0					0						c.(202-204)TTC>TTT		CUE domain containing 2		G		1,3939		0,1,1969	75.0	80.0	78.0		204	-7.0	0.9	10		78	2,8304		0,2,4151	no	coding-synonymous	CUEDC2	NM_024040.2		0,3,6120	AA,AG,GG		0.0241,0.0254,0.0245		68/288	104184420	3,12243	1970	4153	6123	SO:0001819	synonymous_variant	79004					cytoplasm|nucleus	protein binding	g.chr10:104184420G>A	BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.204C>T	10.37:g.104184420G>A						CUEDC2_uc001kvm.2_5'Flank	p.F68F	NM_024040	NP_076945	Q9H467	CUED2_HUMAN		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	355	-		Colorectal(252;0.122)	68					D3DR88|Q9BWG8	Silent	SNP	ENST00000369937.4	37	c.204C>T	CCDS41566.1																																																																																				0.597	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050060.1	NM_024040		13	82	0	0	0	0	13	82				
SEC23IP	11196	broad.mit.edu	37	10	121685713	121685713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121685713G>A	ENST00000369075.3	+	13	2359	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E552K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	763					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGAATTATGAATCTTTTGA	0.433																																						uc001leu.1		NA																	0				ovary(3)	3						c.(2287-2289)GAA>AAA		Sec23-interacting protein p125							160.0	159.0	160.0					10																	121685713		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121685713G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2287G>A	10.37:g.121685713G>A	ENSP00000358071:p.Glu763Lys					SEC23IP_uc010qtc.1_Missense_Mutation_p.E552K|SEC23IP_uc009xzk.1_RNA	p.E763K	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	13	2359	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	763					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2287G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770581	0.49680	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.30714	1.52;1.53	5.71	5.71	0.89125	.	0.345212	0.36972	N	0.002318	T	0.29093	0.0723	L	0.50333	1.59	0.48288	D	0.999629	P;B	0.39782	0.688;0.107	B;B	0.32928	0.155;0.027	T	0.04053	-1.0981	10	0.23891	T	0.37	-11.3315	19.8472	0.96713	0.0:0.0:1.0:0.0	.	552;763	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	K	763;552	ENSP00000358071:E763K;ENSP00000438773:E552K	ENSP00000358071:E763K	E	+	1	0	SEC23IP	121675703	1.000000	0.71417	0.992000	0.48379	0.485000	0.33311	3.903000	0.56318	2.701000	0.92244	0.591000	0.81541	GAA		0.433	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			19	92	0	0	0	0	19	92				
SEC23IP	11196	broad.mit.edu	37	10	121689932	121689932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121689932G>C	ENST00000369075.3	+	15	2633	c.2561G>C	c.(2560-2562)aGa>aCa	p.R854T	SEC23IP_ENST00000475542.1_Intron|SEC23IP_ENST00000543134.1_Missense_Mutation_p.R643T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	854	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R854I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGCAGAAAAAGACTTCATTTA	0.313																																						uc001leu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)	3						c.(2560-2562)AGA>ACA		Sec23-interacting protein p125							53.0	55.0	55.0					10																	121689932		2202	4294	6496	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121689932G>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2561G>C	10.37:g.121689932G>C	ENSP00000358071:p.Arg854Thr					SEC23IP_uc010qtc.1_Missense_Mutation_p.R643T|SEC23IP_uc009xzk.1_Intron	p.R854T	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	15	2633	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	854			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2561G>C	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847627	0.91277	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.37411	1.2;1.27	5.52	5.52	0.82312	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62760	-0.6786	10	0.46703	T	0.11	-25.6438	19.7923	0.96464	0.0:0.0:1.0:0.0	.	643;854	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	T	854;643	ENSP00000358071:R854T;ENSP00000438773:R643T	ENSP00000358071:R854T	R	+	2	0	SEC23IP	121679922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.468000	0.97676	2.765000	0.95021	0.591000	0.81541	AGA		0.313	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			13	54	0	0	0	0	13	54				
FAM24B	196792	broad.mit.edu	37	10	124608956	124608956	+	Splice_Site	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:124608956C>G	ENST00000368898.3	-	4	383		c.e4-1		FAM24B_ENST00000368896.1_Splice_Site|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_Splice_Site|CUZD1_ENST00000368904.1_Splice_Site	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B							extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTTTGCAGCTCTTGAGAAAAG	0.483																																						uc001lgs.2		NA																	0				ovary(1)|skin(1)	2						c.e2-1		CUB and zona pellucida-like domains 1 precursor							91.0	89.0	89.0					10																	124608956		2203	4300	6503	SO:0001630	splice_region_variant	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124608956C>G	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.93-1G>C	10.37:g.124608956C>G						CUZD1_uc010qtz.1_Intron|FAM24B_uc001lgt.2_Intron		NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	2	372	-		all_neural(114;0.169)|Glioma(114;0.222)						Q5JPG1	Splice_Site	SNP	ENST00000368898.3	37	c.-579_splice	CCDS31303.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775312	0.31411	.	.	ENSG00000213185	ENST00000368898;ENST00000368896	.	.	.	3.12	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0027	0.41938	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM24B	124598946	1.000000	0.71417	0.812000	0.32479	0.233000	0.25261	2.830000	0.48136	2.046000	0.60703	0.467000	0.42956	.		0.483	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644	Intron	13	59	0	0	0	0	13	59				
PHRF1	57661	broad.mit.edu	37	11	606519	606519	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:606519C>G	ENST00000264555.5	+	13	1660	c.1532C>G	c.(1531-1533)tCg>tGg	p.S511W	PHRF1_ENST00000416188.2_Missense_Mutation_p.S510W|PHRF1_ENST00000413872.2_Missense_Mutation_p.S509W|PHRF1_ENST00000533464.1_Missense_Mutation_p.S507W	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	511					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCATCCTGTCGGGCCAGAGC	0.687																																						uc001lqe.2		NA																	0					0						c.(1531-1533)TCG>TGG		PHD and ring finger domains 1							23.0	28.0	26.0					11																	606519		2095	4209	6304	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:606519C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1532C>G	11.37:g.606519C>G	ENSP00000264555:p.Ser511Trp					PHRF1_uc010qwc.1_Missense_Mutation_p.S510W|PHRF1_uc010qwd.1_Missense_Mutation_p.S509W|PHRF1_uc010qwe.1_Missense_Mutation_p.S507W|PHRF1_uc009ybz.1_Missense_Mutation_p.S301W|PHRF1_uc009yca.1_5'Flank	p.S511W	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			13	1663	+			511					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1532C>G		.	.	.	.	.	.	.	.	.	.	C	14.87	2.665617	0.47677	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.81996	-1.56;-1.55;-1.55;-1.55	4.93	3.03	0.35002	.	0.492896	0.15417	N	0.263457	D	0.86732	0.6003	L	0.36672	1.1	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.72338	0.948;0.977;0.977;0.948	D	0.86473	0.1786	10	0.87932	D	0	-2.9494	15.1093	0.72343	0.0:0.7035:0.2965:0.0	.	507;509;510;511	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	W	511;509;510;507	ENSP00000264555:S511W;ENSP00000388589:S509W;ENSP00000410626:S510W;ENSP00000431870:S507W	ENSP00000264555:S511W	S	+	2	0	PHRF1	596519	0.997000	0.39634	0.571000	0.28486	0.048000	0.14542	3.606000	0.54095	0.656000	0.30886	0.655000	0.94253	TCG		0.687	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	19	0	0	0	0	4	19				
IRF7	3665	broad.mit.edu	37	11	613228	613228	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:613228G>A	ENST00000397574.2	-	9	1584	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	IRF7_ENST00000348655.6_Silent_p.F376F|IRF7_ENST00000397566.1_Silent_p.F418F|IRF7_ENST00000397570.1_Silent_p.F376F|IRF7_ENST00000525445.1_Silent_p.F299F|IRF7_ENST00000397562.3_Silent_p.F112F|IRF7_ENST00000330243.5_Silent_p.F418F	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	405					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTGAAGTCGAAGATGGGGG	0.652																																						uc001lqh.2		NA																	0					0						c.(1213-1215)TTC>TTT		interferon regulatory factor 7 isoform a							15.0	20.0	18.0					11																	613228		2196	4298	6494	SO:0001819	synonymous_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613228G>A	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1215C>T	11.37:g.613228G>A						IRF7_uc009ycb.2_Silent_p.F299F|IRF7_uc010qwf.1_Silent_p.F404F|IRF7_uc001lqf.2_Silent_p.F112F|IRF7_uc010qwg.1_Silent_p.F112F|IRF7_uc001lqg.2_Silent_p.F418F|IRF7_uc001lqi.2_Silent_p.F376F|IRF7_uc010qwh.1_Silent_p.F112F	p.F405F	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1585	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	405					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	c.1215C>T	CCDS7703.1																																																																																				0.652	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		5	15	0	0	0	0	5	15				
CTR9	9646	broad.mit.edu	37	11	10794110	10794110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:10794110C>T	ENST00000361367.2	+	20	2914	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	830					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTGGCCCGGGCACGCAA	0.453																																						uc001mja.2		NA																	0				ovary(2)	2						c.(2488-2490)CGG>TGG		SH2 domain binding protein 1							58.0	59.0	59.0					11																	10794110		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10794110C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2488C>T	11.37:g.10794110C>T	ENSP00000355013:p.Arg830Trp						p.R830W	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2637	+			830					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.2488C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429439	0.83776	.	.	ENSG00000198730	ENST00000361367	T	0.52057	0.68	5.74	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.76038	-0.3105	10	0.56958	D	0.05	-14.0656	14.9982	0.71449	0.26:0.74:0.0:0.0	.	830	Q6PD62	CTR9_HUMAN	W	830	ENSP00000355013:R830W	ENSP00000355013:R830W	R	+	1	2	CTR9	10750686	0.992000	0.36948	0.992000	0.48379	0.996000	0.88848	2.900000	0.48687	0.728000	0.32382	0.591000	0.81541	CGG		0.453	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		14	42	0	0	0	0	14	42				
INSC	387755	broad.mit.edu	37	11	15222370	15222370	+	Splice_Site	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:15222370G>A	ENST00000379554.3	+	7	881	c.835G>A	c.(835-837)Gag>Aag	p.E279K	INSC_ENST00000424273.1_Intron|INSC_ENST00000379556.3_Splice_Site_p.E232K|INSC_ENST00000447214.2_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000530161.1_Splice_Site_p.E232K|INSC_ENST00000528567.1_Splice_Site_p.E232K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	279					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTCTTGGCAGGAGGGTGGGGT	0.547																																						uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(835-837)GAG>AAG		inscuteable isoform a							91.0	90.0	90.0					11																	15222370		2032	4193	6225	SO:0001630	splice_region_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15222370G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.835-1G>A	11.37:g.15222370G>A						INSC_uc001mlz.2_Missense_Mutation_p.E232K|INSC_uc001mma.2_Missense_Mutation_p.E232K|INSC_uc010rcs.1_Missense_Mutation_p.E267K|INSC_uc001mmb.2_Missense_Mutation_p.E232K|INSC_uc001mmc.2_Intron	p.E279K	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			7	881	+			279					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.835G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845762	0.91197	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000416761;ENST00000528567;ENST00000530161	T;T;T;T	0.33654	1.41;1.42;1.4;1.42	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56543	0.1992	L	0.56769	1.78	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.995	D;D;P	0.76071	0.93;0.987;0.898	T	0.52578	-0.8557	9	.	.	.	-18.0404	16.7066	0.85373	0.0:0.0:1.0:0.0	.	267;232;279	Q1MX18-5;A0PJX5;Q1MX18	.;.;INSC_HUMAN	K	279;232;267;232;232	ENSP00000368872:E279K;ENSP00000368874:E232K;ENSP00000435022:E232K;ENSP00000436194:E232K	.	E	+	1	0	INSC	15178946	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.156000	0.89645	2.528000	0.85240	0.563000	0.77884	GAG		0.547	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	Missense_Mutation	4	30	0	0	0	0	4	30				
DGKZ	8525	broad.mit.edu	37	11	46393102	46393102	+	Silent	SNP	C	C	T	rs575756121		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:46393102C>T	ENST00000454345.1	+	9	1397	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	DGKZ_ENST00000456247.2_Silent_p.H235H|DGKZ_ENST00000527911.1_Silent_p.H236H|DGKZ_ENST00000343674.6_Silent_p.H252H|DGKZ_ENST00000421244.2_Silent_p.H236H|DGKZ_ENST00000395574.3_Silent_p.H202H|DGKZ_ENST00000528615.1_Silent_p.H14H|DGKZ_ENST00000318201.8_Silent_p.H213H|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Silent_p.H240H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	424					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGGGGGTCCACGCAGCCGTGG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		17334	0.0		0.0	False		,,,				2504	0.001					uc001ncn.1		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1270-1272)CAC>CAT		diacylglycerol kinase zeta isoform 4							24.0	28.0	27.0					11																	46393102		2202	4297	6499	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46393102C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1272C>T	11.37:g.46393102C>T						DGKZ_uc001nch.1_Silent_p.H252H|DGKZ_uc010rgq.1_Silent_p.H179H|DGKZ_uc001ncj.1_Silent_p.H202H|DGKZ_uc010rgr.1_Silent_p.H201H|DGKZ_uc001nck.1_Silent_p.H14H|DGKZ_uc001ncl.2_Silent_p.H236H|DGKZ_uc001ncm.2_Silent_p.H235H|DGKZ_uc009yky.1_Silent_p.H236H|DGKZ_uc010rgs.1_Silent_p.H213H	p.H424H	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	9	1397	+			424					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.1272C>T	CCDS41640.1																																																																																				0.687	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		7	20	0	0	0	0	7	20				
PLCB3	5331	broad.mit.edu	37	11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:64029989G>A	ENST00000540288.1	+	18	2252	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E650K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E717K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	717	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCTTCACTGAGGTCATCGT	0.647																																						uc001nzb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2149-2151)GAG>AAG		phospholipase C beta 3							67.0	72.0	70.0					11																	64029989		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64029989G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2149G>A	11.37:g.64029989G>A	ENSP00000443631:p.Glu717Lys					PLCB3_uc009ypg.1_Missense_Mutation_p.E717K|PLCB3_uc009yph.1_Missense_Mutation_p.E650K|PLCB3_uc009ypi.2_Missense_Mutation_p.E717K	p.E717K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			18	2149	+			717			C2.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2149G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613488	0.87359	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.24908	1.96;1.96;1.83	5.36	5.36	0.76844	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.154653	0.56097	D	0.000026	T	0.42607	0.1210	M	0.75150	2.29	0.49915	D	0.999836	D;P	0.57257	0.979;0.808	P;P	0.51516	0.672;0.524	T	0.27872	-1.0061	10	0.35671	T	0.21	.	17.8548	0.88759	0.0:0.0:1.0:0.0	.	650;717	G5E960;Q01970	.;PLCB3_HUMAN	K	717;717;650	ENSP00000279230:E717K;ENSP00000443631:E717K;ENSP00000324660:E650K	ENSP00000279230:E717K	E	+	1	0	PLCB3	63786565	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.486000	0.73629	2.518000	0.84900	0.591000	0.81541	GAG		0.647	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			18	42	0	0	0	0	18	42				
KMT2A	4297	broad.mit.edu	37	11	118362545	118362545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:118362545C>T	ENST00000389506.5	+	15	4897	c.4897C>T	c.(4897-4899)Cga>Tga	p.R1633*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1595*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R1636*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1633					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGCAGAGTGGCGACTGGCCCT	0.468																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4897-4899)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia							91.0	87.0	88.0					11																	118362545		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118362545C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4897C>T	11.37:g.118362545C>T	ENSP00000374157:p.Arg1633*					MLL_uc001ptb.2_Nonsense_Mutation_p.R1636*|MLL_uc001pte.1_RNA	p.R1633*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	15	4920	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1633					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.4897C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	42	9.768632	0.99259	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	.	.	.	5.76	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0164	0.80443	0.5791:0.4208:0.0:0.0	.	.	.	.	X	1636;1633;1595;543;345	.	ENSP00000346516:R1595X	R	+	1	2	MLL	117867755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.155000	0.31700	0.274000	0.22072	0.655000	0.94253	CGA		0.468	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		14	32	0	0	0	0	14	32				
SPSB2	84727	broad.mit.edu	37	12	6980481	6980481	+	Missense_Mutation	SNP	C	C	T	rs368362101		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:6980481C>T	ENST00000524270.1	-	3	853	c.667G>A	c.(667-669)Gag>Aag	p.E223K	LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000523102.1_Missense_Mutation_p.E223K|RPL13P5_ENST00000412023.1_RNA	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	223	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GAGTGTGGCTCCGCTGGGAGA	0.617																																						uc001qrl.2		NA																	0				kidney(1)	1						c.(667-669)GAG>AAG		splA/ryanodine receptor domain and SOCS box							42.0	36.0	38.0					12																	6980481		2203	4300	6503	SO:0001583	missense	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6980481C>T	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.667G>A	12.37:g.6980481C>T	ENSP00000428338:p.Glu223Lys					SPSB2_uc001qrm.2_Missense_Mutation_p.E223K|LRRC23_uc001qrn.1_5'Flank	p.E223K	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN			3	823	-			223			SOCS box.		B7Z4W1|D3DUT0	Missense_Mutation	SNP	ENST00000524270.1	37	c.667G>A	CCDS8567.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199961	0.79015	.	.	ENSG00000111671	ENST00000523102;ENST00000524270	T;T	0.28666	1.6;1.6	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);SOCS protein, C-terminal (1);	0.164918	0.36740	N	0.002423	T	0.35740	0.0942	L	0.40543	1.245	0.80722	D	1	P	0.52463	0.953	P	0.50192	0.634	T	0.09684	-1.0663	10	0.52906	T	0.07	.	15.2567	0.73591	0.0:1.0:0.0:0.0	.	223	Q99619	SPSB2_HUMAN	K	223	ENSP00000430872:E223K;ENSP00000428338:E223K	ENSP00000430872:E223K	E	-	1	0	SPSB2	6850742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.540000	0.82074	2.462000	0.83206	0.655000	0.94253	GAG		0.617	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		5	36	0	0	0	0	5	36				
PIK3C2G	5288	broad.mit.edu	37	12	18719918	18719918	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:18719918C>T	ENST00000266497.5	+	27	3853	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1313L|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S1272L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1272	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTACAAATTCAGATCACAGA	0.289																																						uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3814-3816)TCA>TTA		phosphoinositide-3-kinase, class 2 gamma							92.0	90.0	91.0					12																	18719918		1821	4072	5893	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18719918C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3815C>T	12.37:g.18719918C>T	ENSP00000266497:p.Ser1272Leu					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.S1313L|PIK3C2G_uc010sic.1_Missense_Mutation_p.S1091L	p.S1272L	NM_004570	NP_004561	O75747	P3C2G_HUMAN			28	3931	+		Hepatocellular(102;0.194)	1272			PX.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3815C>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996066	0.19043	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.32272	1.46;1.46;1.46	4.01	3.12	0.35913	Phox homologous domain (5);	0.238022	0.24965	N	0.034195	T	0.20007	0.0481	N	0.20986	0.625	0.34540	D	0.710135	B;B;B	0.26975	0.165;0.137;0.089	B;B;B	0.33196	0.159;0.099;0.092	T	0.18967	-1.0320	10	0.41790	T	0.15	-7.335	6.0351	0.19702	0.0:0.7665:0.0:0.2335	.	1312;1313;1272	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	L	1272;1272;1313	ENSP00000404845:S1272L;ENSP00000266497:S1272L;ENSP00000445381:S1313L	ENSP00000266497:S1272L	S	+	2	0	PIK3C2G	18611185	0.984000	0.35163	0.988000	0.46212	0.820000	0.46376	0.912000	0.28597	1.263000	0.44181	0.655000	0.94253	TCA		0.289	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		11	76	0	0	0	0	11	76				
SLCO1A2	6579	broad.mit.edu	37	12	21422497	21422497	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:21422497C>T	ENST00000307378.6	-	16	2718	c.1998G>A	c.(1996-1998)ttG>ttA	p.L666L	SLCO1A2_ENST00000452078.1_Silent_p.L666L|SLCO1A2_ENST00000458504.1_Silent_p.L534L|SLCO1A2_ENST00000537524.1_Silent_p.L534L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	666					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATTTAGTTTTCAATTCATCAT	0.299																																						uc001rer.2		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1996-1998)TTG>TTA		organic anion transporting polypeptide A							105.0	114.0	111.0					12																	21422497		2203	4300	6503	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422497C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1998G>A	12.37:g.21422497C>T						SLCO1A2_uc001res.2_Silent_p.L666L|SLCO1A2_uc010siq.1_Silent_p.L534L|SLCO1A2_uc010sio.1_Silent_p.L534L|SLCO1A2_uc010sip.1_Silent_p.L534L	p.L666L	NM_021094	NP_066580	P46721	SO1A2_HUMAN			14	2249	-			666			Cytoplasmic (Potential).		Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.1998G>A	CCDS8686.1																																																																																				0.299	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		18	87	0	0	0	0	18	87				
C2CD5	9847	broad.mit.edu	37	12	22680820	22680820	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:22680820C>T	ENST00000333957.4	-	4	439	c.184G>A	c.(184-186)Gat>Aat	p.D62N	C2CD5_ENST00000396028.2_Missense_Mutation_p.D62N|C2CD5_ENST00000446597.1_Missense_Mutation_p.D62N|C2CD5_ENST00000545552.1_Missense_Mutation_p.D62N|C2CD5_ENST00000540703.1_5'Flank|C2CD5_ENST00000542676.1_Missense_Mutation_p.D62N|C2CD5_ENST00000536386.1_Missense_Mutation_p.D62N|C2CD5_ENST00000544930.1_5'UTR	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	62	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										AAGTCTTCATCATCCACCTAC	0.313																																						uc001rfq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(184-186)GAT>AAT		hypothetical protein LOC9847							125.0	116.0	119.0					12																	22680820		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22680820C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.184G>A	12.37:g.22680820C>T	ENSP00000334229:p.Asp62Asn					KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.D62N|KIAA0528_uc010sit.1_Missense_Mutation_p.D62N|KIAA0528_uc010siu.1_Missense_Mutation_p.D62N|KIAA0528_uc001rfr.2_Missense_Mutation_p.D62N|KIAA0528_uc009ziy.1_Missense_Mutation_p.D62N	p.D62N	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			4	412	-			62			C2.		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.184G>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269488	0.95429	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.48	5.48	0.80851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80919	0.4716	M	0.63169	1.94	0.80722	D	1	D;D;D;D;D	0.89917	0.959;0.999;1.0;0.999;1.0	P;D;D;D;D	0.97110	0.882;0.995;1.0;0.998;0.997	T	0.80790	-0.1225	10	0.52906	T	0.07	-27.955	19.3608	0.94436	0.0:1.0:0.0:0.0	.	62;62;62;62;62	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	N	62	ENSP00000334229:D62N;ENSP00000388756:D62N;ENSP00000439392:D62N;ENSP00000379345:D62N;ENSP00000441951:D62N;ENSP00000443204:D62N	ENSP00000334229:D62N	D	-	1	0	KIAA0528	22572087	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.783000	0.85696	2.590000	0.87494	0.561000	0.74099	GAT		0.313	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		6	57	0	0	0	0	6	57				
SOX5	6660	broad.mit.edu	37	12	23818434	23818434	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:23818434G>T	ENST00000451604.2	-	7	976	c.875C>A	c.(874-876)gCa>gAa	p.A292E	SOX5_ENST00000546136.1_Missense_Mutation_p.A279E|SOX5_ENST00000545921.1_Missense_Mutation_p.A282E|SOX5_ENST00000309359.1_Missense_Mutation_p.A279E|SOX5_ENST00000537393.1_Missense_Mutation_p.A257E|SOX5_ENST00000541536.1_Missense_Mutation_p.A279E|SOX5_ENST00000381381.2_Missense_Mutation_p.A279E			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	292					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGGGCAGCTGCAGCCAGTGT	0.507																																						uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(874-876)GCA>GAA		SRY (sex determining region Y)-box 5 isoform a							124.0	124.0	124.0					12																	23818434		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23818434G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.875C>A	12.37:g.23818434G>T	ENSP00000398273:p.Ala292Glu					SOX5_uc001rfx.2_Missense_Mutation_p.A279E|SOX5_uc001rfy.2_Missense_Mutation_p.A279E|SOX5_uc010siv.1_Missense_Mutation_p.A279E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.A244E	p.A292E	NM_006940	NP_008871	P35711	SOX5_HUMAN			7	977	-			292					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.875C>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171133	0.94807	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97598	-4.41;-4.41;-4.45;-4.41;-4.39;-4.45;-4.41	5.28	5.28	0.74379	.	0.231544	0.43416	D	0.000569	D	0.98302	0.9437	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;D	0.76071	0.987;0.818;0.971	D	0.98959	1.0797	10	0.66056	D	0.02	.	19.0818	0.93186	0.0:0.0:1.0:0.0	.	257;279;292	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	E	279;279;279;292;244;257;279;282	ENSP00000437487:A279E;ENSP00000308927:A279E;ENSP00000370788:A279E;ENSP00000398273:A292E;ENSP00000439832:A257E;ENSP00000441973:A279E;ENSP00000443520:A282E	ENSP00000308927:A279E	A	-	2	0	SOX5	23709701	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.593000	0.98250	2.733000	0.93635	0.655000	0.94253	GCA		0.507	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		61	95	1	0	9.54e-28	1.05e-27	61	95				
ITPR2	3709	broad.mit.edu	37	12	26592150	26592150	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:26592150C>T	ENST00000381340.3	-	47	6969	c.6553G>A	c.(6553-6555)Gaa>Aaa	p.E2185K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2185					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATCCCTTTCAGTTGTATTG	0.403																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(6553-6555)GAA>AAA		inositol 1,4,5-triphosphate receptor, type 2							176.0	163.0	167.0					12																	26592150		1870	4110	5980	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26592150C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6553G>A	12.37:g.26592150C>T	ENSP00000370744:p.Glu2185Lys					ITPR2_uc009zjg.1_Missense_Mutation_p.E336K	p.E2185K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			47	6970	-	Colorectal(261;0.0847)		2185			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6553G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684711	0.88639	.	.	ENSG00000123104	ENST00000381340	D	0.92249	-3.0	5.52	5.52	0.82312	.	0.052344	0.85682	D	0.000000	D	0.97037	0.9032	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96683	0.9505	10	0.51188	T	0.08	.	19.6296	0.95694	0.0:1.0:0.0:0.0	.	2185	Q14571	ITPR2_HUMAN	K	2185	ENSP00000370744:E2185K	ENSP00000370744:E2185K	E	-	1	0	ITPR2	26483417	1.000000	0.71417	0.192000	0.23308	0.575000	0.36095	7.638000	0.83328	2.873000	0.98535	0.563000	0.77884	GAA		0.403	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		13	88	0	0	0	0	13	88				
BICD1	636	broad.mit.edu	37	12	32369208	32369208	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:32369208C>T	ENST00000281474.5	+	2	344	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	BICD1_ENST00000548411.1_Missense_Mutation_p.R81W	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	81					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCCATCCACCGGAAGGTTGC	0.468																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(241-243)CGG>TGG		bicaudal D homolog 1 isoform 1							75.0	77.0	76.0					12																	32369208		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369208C>T	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.241C>T	12.37:g.32369208C>T	ENSP00000281474:p.Arg81Trp					BICD1_uc001rkv.2_Missense_Mutation_p.R81W|BICD1_uc010skd.1_RNA	p.R81W	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	322	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		81			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.241C>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141431	0.77775	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.53640	0.61;0.61	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.977;0.991	T	0.74618	-0.3605	10	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	81;81	F8W113;Q96G01	.;BICD1_HUMAN	W	81	ENSP00000446793:R81W;ENSP00000281474:R81W	ENSP00000281474:R81W	R	+	1	2	BICD1	32260475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.697000	0.37784	2.603000	0.88011	0.655000	0.94253	CGG		0.468	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		11	28	0	0	0	0	11	28				
SYT10	341359	broad.mit.edu	37	12	33535294	33535294	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:33535294C>T	ENST00000228567.3	-	5	1656	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	SYT10_ENST00000535526.1_Missense_Mutation_p.D273N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	454	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTATCGTAATCCATGACCGCA	0.458																																						uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(1360-1362)GAT>AAT		synaptotagmin X							201.0	175.0	184.0					12																	33535294		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33535294C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1360G>A	12.37:g.33535294C>T	ENSP00000228567:p.Asp454Asn					SYT10_uc009zju.1_Missense_Mutation_p.D264N	p.D454N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			5	1657	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		454			C2 2.|Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1360G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273033	0.80580	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.79845	-1.31;-1.31	3.97	3.08	0.35506	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42821	U	0.000660	D	0.89294	0.6674	M	0.85630	2.765	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.90384	0.4390	10	0.87932	D	0	.	11.7931	0.52080	0.0:0.9124:0.0:0.0876	.	454	Q6XYQ8	SYT10_HUMAN	N	454;273	ENSP00000228567:D454N;ENSP00000438691:D273N	ENSP00000228567:D454N	D	-	1	0	SYT10	33426561	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.997000	0.76270	1.264000	0.44198	0.585000	0.79938	GAT		0.458	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		6	47	0	0	0	0	6	47				
CNTN1	1272	broad.mit.edu	37	12	41352971	41352971	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:41352971G>A	ENST00000551295.2	+	15	1856	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	CNTN1_ENST00000348761.2_Missense_Mutation_p.R569K|CNTN1_ENST00000547849.1_Missense_Mutation_p.R580K|CNTN1_ENST00000360099.3_Missense_Mutation_p.R580K|CNTN1_ENST00000547702.1_Missense_Mutation_p.R580K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R580K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	580	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATGCTGGAAGATACACATGC	0.388																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1738-1740)AGA>AAA		contactin 1 isoform 1 precursor							106.0	96.0	99.0					12																	41352971		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41352971G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1739G>A	12.37:g.41352971G>A	ENSP00000447006:p.Arg580Lys					CNTN1_uc009zjy.1_Missense_Mutation_p.R580K|CNTN1_uc001rmn.1_Missense_Mutation_p.R569K|CNTN1_uc001rmo.2_Missense_Mutation_p.R580K	p.R580K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			15	1852	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	580			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1739G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	8.047	0.765075	0.15914	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119890	0.51477	D	0.000091	T	0.13670	0.0331	N	0.16233	0.39	0.40436	D	0.979994	P;B;B	0.50617	0.937;0.036;0.333	P;B;B	0.51516	0.672;0.09;0.241	T	0.01621	-1.1310	10	0.02654	T	1	.	19.3657	0.94460	0.0:0.0:1.0:0.0	.	580;569;580	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	580;580;580;580;580;569	ENSP00000448004:R580K;ENSP00000447006:R580K;ENSP00000448653:R580K;ENSP00000325660:R580K;ENSP00000353213:R580K;ENSP00000261160:R569K	ENSP00000325660:R580K	R	+	2	0	CNTN1	39639238	0.997000	0.39634	0.771000	0.31576	0.464000	0.32679	4.609000	0.61148	2.744000	0.94065	0.655000	0.94253	AGA		0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		13	53	0	0	0	0	13	53				
DIP2B	57609	broad.mit.edu	37	12	51108292	51108292	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:51108292C>G	ENST00000301180.5	+	23	2798	c.2764C>G	c.(2764-2766)Ctg>Gtg	p.L922V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	922						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACAACTCTTTCTGGAGGGATC	0.473																																						uc001rwv.2		NA																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(2764-2766)CTG>GTG		DIP2 disco-interacting protein 2 homolog B							143.0	129.0	133.0					12																	51108292		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51108292C>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2764C>G	12.37:g.51108292C>G	ENSP00000301180:p.Leu922Val					DIP2B_uc009zlt.2_Missense_Mutation_p.L352V	p.L922V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			23	2920	+			922					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.2764C>G	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629813	0.46944	.	.	ENSG00000066084	ENST00000301180	T	0.35789	1.29	5.22	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.84585	2.705	0.53005	D	0.999968	P	0.44090	0.826	P	0.45506	0.483	T	0.42682	-0.9437	10	0.41790	T	0.15	-11.5692	8.2816	0.31904	0.0:0.7615:0.0:0.2385	.	922	Q9P265	DIP2B_HUMAN	V	922	ENSP00000301180:L922V	ENSP00000301180:L922V	L	+	1	2	DIP2B	49394559	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.537000	0.36083	0.898000	0.36418	0.655000	0.94253	CTG		0.473	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		15	64	0	0	0	0	15	64				
KRT4	3851	broad.mit.edu	37	12	53201525	53201525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:53201525G>A	ENST00000551956.1	-	7	1741	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	KRT4_ENST00000458244.2_Nonsense_Mutation_p.R397*|KRT4_ENST00000293774.4_Nonsense_Mutation_p.R491*			P19013	K2C4_HUMAN	keratin 4	431	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGCAGCATTCGTGCCAGCTCC	0.602																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	0				ovary(4)|skin(2)	6						c.(1471-1473)CGA>TGA		keratin 4							115.0	107.0	110.0					12																	53201525		2203	4300	6503	SO:0001587	stop_gained	3851					keratin filament	structural molecule activity	g.chr12:53201525G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1249C>T	12.37:g.53201525G>A	ENSP00000448220:p.Arg417*						p.R491*	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			7	1742	-			417					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Nonsense_Mutation	SNP	ENST00000551956.1	37	c.1471C>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	G	32	5.164810	0.94727	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	.	.	.	5.47	1.29	0.21616	.	0.184798	0.27275	N	0.020102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0727	0.36502	0.0682:0.0:0.4517:0.48	.	.	.	.	X	417;491;397	.	ENSP00000293774:R491X	R	-	1	2	KRT4	51487792	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	2.314000	0.43743	0.755000	0.32990	0.561000	0.74099	CGA		0.602	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		19	58	0	0	0	0	19	58				
CDK17	5128	broad.mit.edu	37	12	96728558	96728558	+	Silent	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:96728558A>G	ENST00000261211.3	-	2	660	c.57T>C	c.(55-57)gaT>gaC	p.D19D	CDK17_ENST00000542666.1_Intron|CDK17_ENST00000543119.2_Silent_p.D19D	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	19					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAATGATTCATCAATAGTCT	0.368																																						uc001tep.1		NA																	0				ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.(55-57)GAT>GAC		PCTAIRE protein kinase 2							143.0	138.0	140.0					12																	96728558		2203	4300	6503	SO:0001819	synonymous_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96728558A>G		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.57T>C	12.37:g.96728558A>G						CDK17_uc009ztk.2_Silent_p.D19D|CDK17_uc010svb.1_Intron	p.D19D	NM_002595	NP_002586	Q00537	CDK17_HUMAN			2	546	-			19					A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	ENST00000261211.3	37	c.57T>C	CCDS9061.1																																																																																				0.368	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		7	30	0	0	0	0	7	30				
RASAL1	8437	broad.mit.edu	37	12	113544929	113544929	+	Missense_Mutation	SNP	G	G	A	rs61759863		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:113544929G>A	ENST00000261729.5	-	16	1945	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.R545W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R544W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R544W			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	544					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCCACCAGCCGGTCCAGGAAG	0.607																																						uc001tum.1		NA																	0				ovary(2)|skin(2)	4						c.(1630-1632)CGG>TGG		RAS protein activator like 1							91.0	79.0	83.0					12																	113544929		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113544929G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1630C>T	12.37:g.113544929G>A	ENSP00000261729:p.Arg544Trp					RASAL1_uc010syp.1_Missense_Mutation_p.R544W|RASAL1_uc001tul.2_Missense_Mutation_p.R544W|RASAL1_uc001tun.1_Missense_Mutation_p.R545W|RASAL1_uc010syq.1_Missense_Mutation_p.R544W|RASAL1_uc001tuo.3_Missense_Mutation_p.R544W|RASAL1_uc010syr.1_3'UTR	p.R544W	NM_004658	NP_004649	O95294	RASL1_HUMAN			16	1923	-			544					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1630C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638295	0.67130	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.42	1.14	0.20703	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.562280	0.18700	N	0.133610	T	0.20820	0.0501	L	0.38175	1.15	0.32702	N	0.512715	D;D;D;D;D;D	0.65815	0.992;0.995;0.992;0.992;0.986;0.995	P;P;P;P;P;P	0.55824	0.614;0.785;0.614;0.761;0.582;0.785	T	0.24512	-1.0158	10	0.72032	D	0.01	.	7.3016	0.26424	0.0:0.1326:0.3511:0.5163	rs61759863	544;544;557;545;544;544	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	W	545;544;544;544	ENSP00000450244:R545W;ENSP00000261729:R544W;ENSP00000395920:R544W;ENSP00000448510:R544W	ENSP00000261729:R544W	R	-	1	2	RASAL1	112029312	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	1.497000	0.35649	0.456000	0.26937	-0.314000	0.08810	CGG		0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		16	35	0	0	0	0	16	35				
GPR133	283383	broad.mit.edu	37	12	131475580	131475580	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:131475580C>T	ENST00000261654.5	+	7	1326	c.767C>T	c.(766-768)tCa>tTa	p.S256L	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S288L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	256					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTATTGTCTTCAACGCTGCCA	0.468																																						uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(766-768)TCA>TTA		G protein-coupled receptor 133 precursor							138.0	107.0	118.0					12																	131475580		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131475580C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.767C>T	12.37:g.131475580C>T	ENSP00000261654:p.Ser256Leu					GPR133_uc010tbm.1_Missense_Mutation_p.S288L	p.S256L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	7	1326	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		256			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.767C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482462	0.44147	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.45276	0.91;0.9	4.26	4.26	0.50523	.	0.398243	0.23129	N	0.051620	T	0.37705	0.1013	L	0.54323	1.7	0.80722	D	1	P;P	0.39282	0.544;0.666	B;B	0.33339	0.162;0.162	T	0.48525	-0.9028	10	0.87932	D	0	.	14.687	0.69057	0.0:1.0:0.0:0.0	.	288;256	B7ZLF7;Q6QNK2	.;GP133_HUMAN	L	256;196;288;15	ENSP00000261654:S256L;ENSP00000444425:S288L	ENSP00000261654:S256L	S	+	2	0	GPR133	130041533	0.047000	0.20315	0.006000	0.13384	0.002000	0.02628	2.319000	0.43788	2.307000	0.77673	0.557000	0.71058	TCA		0.468	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		6	17	0	0	0	0	6	17				
ULK1	8408	broad.mit.edu	37	12	132404541	132404541	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:132404541G>A	ENST00000321867.4	+	26	3172	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K	ULK1_ENST00000540647.1_Missense_Mutation_p.E186K	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	941					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGGCTGAATGAGCTGTACAA	0.642																																						uc001uje.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2821-2823)GAG>AAG		Unc-51-like kinase 1							55.0	59.0	58.0					12																	132404541		2203	4299	6502	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132404541G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2821G>A	12.37:g.132404541G>A	ENSP00000324560:p.Glu941Lys						p.E941K	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	26	3089	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		941					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2821G>A	CCDS9274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.285516|2.285516	0.40394|0.40394	.|.	.|.	ENSG00000177169|ENSG00000177169	ENST00000321867;ENST00000540647|ENST00000542419	T;T|.	0.46819|.	0.86;0.86|.	5.13|5.13	4.24|4.24	0.50183|0.50183	Serine/threonine-protein kinase, C-terminal (1);|.	0.062539|.	0.64402|.	N|.	0.000008|.	T|T	0.72112|0.72112	0.3420|0.3420	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	P|.	0.50272|.	0.933|.	P|.	0.50378|.	0.639|.	T|T	0.75348|0.75348	-0.3349|-0.3349	10|6	0.42905|0.87932	T|D	0.14|0	-23.676|-23.676	13.5103|13.5103	0.61508|0.61508	0.076:0.0:0.924:0.0|0.076:0.0:0.924:0.0	.|.	941|.	O75385|.	ULK1_HUMAN|.	K|I	941;186|1	ENSP00000324560:E941K;ENSP00000441794:E186K|.	ENSP00000324560:E941K|ENSP00000446219:M1I	E|M	+|+	1|3	0|0	ULK1|ULK1	130970494|130970494	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.661000|0.661000	0.39034|0.39034	6.377000|6.377000	0.73145|0.73145	1.148000|1.148000	0.42385|0.42385	0.561000|0.561000	0.74099|0.74099	GAG|ATG		0.642	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			11	44	0	0	0	0	11	44				
NHLRC3	387921	broad.mit.edu	37	13	39618234	39618234	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:39618234G>A	ENST00000379600.3	+	5	916	c.594G>A	c.(592-594)atG>atA	p.M198I	NHLRC3_ENST00000470258.1_Start_Codon_SNP_p.M1I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.M131I	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	198						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TAGATTTCATGATCCTTTGGC	0.373																																						uc001uxc.2		NA																	0				skin(1)	1						c.(592-594)ATG>ATA		NHL repeat containing 3 isoform a							224.0	229.0	227.0					13																	39618234		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39618234G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.594G>A	13.37:g.39618234G>A	ENSP00000368920:p.Met198Ile					NHLRC3_uc001uxb.1_Missense_Mutation_p.M198I|NHLRC3_uc001uxd.2_Missense_Mutation_p.M131I|NHLRC3_uc001uxe.2_Missense_Mutation_p.M1I	p.M198I	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	5	916	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	198					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.594G>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774277	0.49786	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599;ENST00000537150	T;D;D	0.90004	-0.01;-2.6;-2.53	5.88	3.01	0.34805	Six-bladed beta-propeller, TolB-like (1);	0.468437	0.27113	N	0.020863	T	0.79782	0.4505	L	0.35414	1.06	0.09310	N	0.999999	B;B;B	0.22983	0.064;0.078;0.051	B;B;B	0.18263	0.013;0.021;0.01	T	0.64097	-0.6487	9	.	.	.	-1.9439	6.972	0.24654	0.1653:0.2871:0.5476:0.0	.	131;198;198	B4DTL0;Q5JS37;B4DRC8	.;NHLC3_HUMAN;.	I	1;198;131;131	ENSP00000418127:M1I;ENSP00000368920:M198I;ENSP00000368919:M131I	.	M	+	3	0	NHLRC3	38516234	0.978000	0.34361	0.998000	0.56505	0.998000	0.95712	2.575000	0.46025	0.747000	0.32809	0.650000	0.86243	ATG		0.373	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		44	198	0	0	0	0	44	198				
KLHL1	57626	broad.mit.edu	37	13	70456505	70456505	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:70456505C>A	ENST00000377844.4	-	5	1896	c.1137G>T	c.(1135-1137)ttG>ttT	p.L379F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L186F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	379					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCACATCATCAATGCATGGA	0.438																																						uc001vip.2		NA																	0					0						c.(1135-1137)TTG>TTT		kelch-like 1 protein							171.0	137.0	148.0					13																	70456505		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456505C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1137G>T	13.37:g.70456505C>A	ENSP00000367075:p.Leu379Phe					KLHL1_uc010thm.1_Missense_Mutation_p.L318F	p.L379F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1931	-		Breast(118;0.000162)	379					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1137G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350036	0.61183	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.71461	-0.57;-0.57	5.03	-5.81	0.02340	BTB/Kelch-associated (2);	0.000000	0.48286	D	0.000191	D	0.84037	0.5384	M	0.92122	3.275	0.37506	D	0.916972	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.86621	0.1879	10	0.87932	D	0	.	14.3529	0.66716	0.0:0.51:0.0:0.49	.	379;379	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	379;186	ENSP00000367075:L379F;ENSP00000439602:L186F	ENSP00000367075:L379F	L	-	3	2	KLHL1	69354506	0.991000	0.36638	0.944000	0.38274	0.950000	0.60333	0.245000	0.18142	-0.877000	0.04012	-0.229000	0.12294	TTG		0.438	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		26	56	1	0	1.03e-24	1.14e-24	26	56				
RBM26	64062	broad.mit.edu	37	13	79894788	79894788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:79894788C>T	ENST00000438737.2	-	22	3432	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	RBM26_ENST00000438724.1_Missense_Mutation_p.E974K|RBM26_ENST00000267229.7_Missense_Mutation_p.E971K			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	998					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCATTGTCCTCTTCTTCTTCA	0.328																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(2998-3000)GAG>AAG		RNA binding motif protein 26							138.0	116.0	124.0					13																	79894788		2201	4295	6496	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79894788C>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2992G>A	13.37:g.79894788C>T	ENSP00000387531:p.Glu998Lys					RBM26_uc001vky.2_Missense_Mutation_p.E971K|RBM26_uc001vla.2_Missense_Mutation_p.E974K|RBM26_uc010tia.1_3'UTR|RBM26_uc001vkx.2_Missense_Mutation_p.E710K	p.E1000K	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	22	3012	-		Acute lymphoblastic leukemia(28;0.0279)	998					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2998G>A		.	.	.	.	.	.	.	.	.	.	C	16.84	3.235213	0.58886	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.52295	0.67;0.67	5.88	5.88	0.94601	.	0.156815	0.56097	D	0.000038	T	0.37376	0.1001	L	0.27053	0.805	0.80722	D	1	B;B;B	0.34290	0.447;0.319;0.447	B;B;B	0.24155	0.051;0.023;0.051	T	0.24941	-1.0146	10	0.56958	D	0.05	-3.724	20.3016	0.98615	0.0:1.0:0.0:0.0	.	974;998;971	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	K	971;999;998;974	ENSP00000267229:E971K;ENSP00000390222:E974K	ENSP00000267229:E971K	E	-	1	0	RBM26	78792789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.623000	0.74238	2.806000	0.96561	0.644000	0.83932	GAG		0.328	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		6	43	0	0	0	0	6	43				
SLITRK6	84189	broad.mit.edu	37	13	86368921	86368921	+	Missense_Mutation	SNP	T	T	C	rs34019808		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:86368921T>C	ENST00000400286.2	-	2	2321	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	575					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTGTTGGCATGGATGGGTTA	0.448																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1723-1725)ATG>GTG		slit and trk like 6 precursor							151.0	154.0	153.0					13																	86368921		1978	4164	6142	SO:0001583	missense	84189					integral to membrane		g.chr13:86368921T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1723A>G	13.37:g.86368921T>C	ENSP00000383143:p.Met575Val					SLITRK6_uc010afe.1_Intron	p.M575V	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2182	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		575			Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1723A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.371560	0.01225	.	.	ENSG00000184564	ENST00000400286	T	0.55234	0.53	5.83	-0.823	0.10815	.	0.791796	0.10599	U	0.655830	T	0.21761	0.0524	N	0.08118	0	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.17228	-1.0376	10	0.09843	T	0.71	-0.0324	0.5201	0.00610	0.2749:0.123:0.316:0.2861	.	575	Q9H5Y7	SLIK6_HUMAN	V	575	ENSP00000383143:M575V	ENSP00000383143:M575V	M	-	1	0	SLITRK6	85266922	0.000000	0.05858	0.359000	0.25824	0.798000	0.45092	-0.103000	0.10940	-0.551000	0.06175	-1.046000	0.02355	ATG		0.448	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		18	78	0	0	0	0	18	78				
ERCC5	2073	broad.mit.edu	37	13	103514661	103514661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:103514661C>T	ENST00000355739.4	+	8	2585	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S813F|ERCC5_ENST00000375954.1_5'Flank	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	388					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCCGGACTCTTTCAGCCAT	0.532			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1162-1164)CTT>TTT	Direct_reversal_of_damage|NER	XPG-complementing protein							67.0	68.0	68.0					13																	103514661		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514661C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1162C>T	13.37:g.103514661C>T	ENSP00000347978:p.Leu388Phe					ERCC5_uc001vpu.1_Missense_Mutation_p.L842F|ERCC5_uc010tjb.1_Missense_Mutation_p.L388F|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.L220F	p.L388F	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1605	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		388					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1162C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080779	0.55753	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20463	2.07	5.22	1.4	0.22301	.	0.519951	0.19161	N	0.121187	T	0.29882	0.0747	M	0.63843	1.955	0.09310	N	0.999998	D;D;P	0.69078	0.997;0.961;0.779	P;P;B	0.61800	0.894;0.708;0.388	T	0.18023	-1.0350	10	0.13470	T	0.59	-0.3211	5.7276	0.18022	0.0:0.5229:0.2597:0.2174	.	388;388;813	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	F	813;388;220	ENSP00000347978:L388F	ENSP00000347978:L388F	L	+	1	0	ERCC5	102312662	0.031000	0.19500	0.002000	0.10522	0.021000	0.10359	0.236000	0.17967	0.180000	0.19960	-0.165000	0.13383	CTT		0.532	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			12	39	0	0	0	0	12	39				
NGDN	25983	broad.mit.edu	37	14	23940186	23940186	+	Splice_Site	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:23940186G>A	ENST00000408901.3	+	3	172	c.144G>A	c.(142-144)aaG>aaA	p.K48K	NGDN_ENST00000397154.3_Splice_Site_p.K48K	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	48	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTACAGAAAAGGTAAGATGTA	0.378																																						uc001wjy.2		NA																	0					0						c.(142-144)AAG>AAA		neuroguidin isoform 1							116.0	110.0	112.0					14																	23940186		2203	4300	6503	SO:0001630	splice_region_variant	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23940186G>A	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.144+1G>A	14.37:g.23940186G>A						NGDN_uc001wjz.2_Silent_p.K48K	p.K48K	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	171	+	all_cancers(95;0.000251)		48			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Silent	SNP	ENST00000408901.3	37	c.144G>A	CCDS41926.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084718	0.36758	.	.	ENSG00000129460	ENST00000556483	.	.	.	4.9	3.79	0.43588	.	.	.	.	.	T	0.61590	0.2359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59516	-0.7440	4	.	.	.	-0.232	11.3796	0.49750	0.1067:0.0:0.8933:0.0	.	.	.	.	R	42	.	.	G	+	1	0	NGDN	23010026	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.990000	0.49401	2.274000	0.75844	0.462000	0.41574	GGG		0.378	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635	Silent	13	48	0	0	0	0	13	48				
PRKD1	5587	broad.mit.edu	37	14	30095738	30095738	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:30095738A>T	ENST00000331968.5	-	12	1979	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	PRKD1_ENST00000415220.2_Missense_Mutation_p.F592I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCATCAGGAAAAATCTGATAT	0.313																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1750-1752)TTT>ATT		protein kinase D1							53.0	56.0	55.0					14																	30095738		2203	4298	6501	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30095738A>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1750T>A	14.37:g.30095738A>T	ENSP00000333568:p.Phe584Ile						p.F584I	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	12	1931	-	Hepatocellular(127;0.0604)		584			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1750T>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	32	5.139549	0.94560	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67523	-0.27;-0.26	5.46	5.46	0.80206	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	N	0.21448	0.665	0.80722	D	1	P	0.42203	0.773	P	0.44732	0.459	T	0.65245	-0.6215	10	0.59425	D	0.04	-25.6354	15.8264	0.78709	1.0:0.0:0.0:0.0	.	584	Q15139	KPCD1_HUMAN	I	584;592	ENSP00000333568:F584I;ENSP00000390535:F592I	ENSP00000333568:F584I	F	-	1	0	PRKD1	29165489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.199000	0.95003	2.199000	0.70637	0.528000	0.53228	TTT		0.313	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	45	0	0	0	0	5	45				
MBIP	51562	broad.mit.edu	37	14	36780830	36780830	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:36780830C>A	ENST00000416007.4	-	6	826	c.739G>T	c.(739-741)Gct>Tct	p.A247S	MBIP_ENST00000318473.7_Missense_Mutation_p.A247S|MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000359527.7_Missense_Mutation_p.A247S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	247	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCTTCTACAGCCTGATTACCA	0.443																																						uc001wtm.2		NA																	0					0						c.(739-741)GCT>TCT		MAP3K12 binding inhibitory protein 1 isoform 1							119.0	100.0	106.0					14																	36780830		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36780830C>A	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.739G>T	14.37:g.36780830C>A	ENSP00000399718:p.Ala247Ser					MBIP_uc001wto.2_Missense_Mutation_p.A247S|MBIP_uc010tpy.1_Missense_Mutation_p.A106S|MBIP_uc001wtn.2_Missense_Mutation_p.A247S	p.A247S	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	6	827	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		247			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.739G>T	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.294512|5.294512	0.95546|0.95546	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298|ENST00000553977	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.045090|.	0.85682|.	D|.	0.000000|.	T|T	0.81767|0.81767	0.4892|0.4892	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.991;0.971;0.971;0.98|.	P;P;P;P|.	0.59595|.	0.86;0.783;0.783;0.795|.	T|T	0.79455|0.79455	-0.1796|-0.1796	10|5	0.66056|.	D|.	0.02|.	-18.0698|-18.0698	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	221;247;247;247|.	B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;.;MBIP1_HUMAN|.	S|V	247;247;247;254;207|243	ENSP00000399718:A247S;ENSP00000324444:A247S;ENSP00000352517:A247S|.	ENSP00000324444:A247S|.	A|G	-|-	1|2	0|0	MBIP|MBIP	35850581|35850581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.939000|6.939000	0.75911|0.75911	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.443	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		18	43	1	0	4.97e-08	5.32e-08	18	43				
NID2	22795	broad.mit.edu	37	14	52496406	52496406	+	Missense_Mutation	SNP	C	C	G	rs17853445|rs199555647		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:52496406C>G	ENST00000216286.5	-	10	2259	c.2260G>C	c.(2260-2262)Gat>Cat	p.D754H	NID2_ENST00000541773.1_Missense_Mutation_p.D701H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	754	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTCTGAATCCTCTGCATGA	0.502																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2260-2262)GAT>CAT		nidogen 2 precursor							75.0	63.0	67.0					14																	52496406		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52496406C>G	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2260G>C	14.37:g.52496406C>G	ENSP00000216286:p.Asp754His					NID2_uc010tqs.1_Missense_Mutation_p.D754H|NID2_uc010tqt.1_Missense_Mutation_p.D754H|NID2_uc001wzp.2_Missense_Mutation_p.D754H	p.D754H	NM_007361	NP_031387	Q14112	NID2_HUMAN			10	2494	-	Breast(41;0.0639)|all_epithelial(31;0.123)		754			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2260G>C	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.490366|2.490366	0.44249|0.44249	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	D;D|.	0.84660|.	-1.88;-1.74|.	5.68|5.68	0.66|0.66	0.17868|0.17868	G2 nidogen/fibulin G2F (2);|.	0.490277|.	0.23090|.	N|.	0.052053|.	T|T	0.44414|0.44414	0.1292|0.1292	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	P;P;D;P|.	0.59767|.	0.823;0.859;0.986;0.715|.	B;P;P;B|.	0.53722|.	0.343;0.588;0.733;0.435|.	T|T	0.36407|0.36407	-0.9749|-0.9749	10|5	0.59425|.	D|.	0.04|.	.|.	6.4293|6.4293	0.21788|0.21788	0.1159:0.6247:0.0:0.2594|0.1159:0.6247:0.0:0.2594	.|.	348;701;756;754|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	H|A	754;348;701;756|70	ENSP00000216286:D754H;ENSP00000443730:D701H|.	ENSP00000216286:D754H|.	D|G	-|-	1|2	0|0	NID2|NID2	51566156|51566156	0.154000|0.154000	0.22792|0.22792	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.196000|1.196000	0.32198|0.32198	0.065000|0.065000	0.16485|0.16485	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.502	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			4	31	0	0	0	0	4	31				
SPTB	6710	broad.mit.edu	37	14	65262207	65262207	+	Missense_Mutation	SNP	G	G	A	rs144624027		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:65262207G>A	ENST00000389721.5	-	11	1524	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	SPTB_ENST00000556626.1_Missense_Mutation_p.R498C|SPTB_ENST00000542895.1_Missense_Mutation_p.R498C|SPTB_ENST00000389720.3_Missense_Mutation_p.R498C|SPTB_ENST00000389722.3_Missense_Mutation_p.R498C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	498					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCGTGATGCGCTTCTGGTCA	0.627																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1492-1494)CGC>TGC		spectrin beta isoform b		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	110.0	102.0	104.0		1492,1492	5.7	1.0	14	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	180,180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	498/2138,498/2329	65262207	3,13003	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65262207G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1492C>T	14.37:g.65262207G>A	ENSP00000374371:p.Arg498Cys					SPTB_uc001xhr.2_Missense_Mutation_p.R498C|SPTB_uc001xhs.2_Missense_Mutation_p.R498C|SPTB_uc001xhu.2_Missense_Mutation_p.R498C	p.R498C	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	11	1546	-		all_lung(585;4.15e-09)	498			Spectrin 2.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1492C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220473	0.95139	0.0	3.49E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81581	-0.0867	10	0.87932	D	0	.	18.667	0.91493	0.0:0.0:1.0:0.0	.	498;502	P11277;Q59FP5	SPTB1_HUMAN;.	C	502;498;498;498;498;498	ENSP00000374372:R498C;ENSP00000451752:R498C;ENSP00000374371:R498C;ENSP00000443882:R498C;ENSP00000374370:R498C	ENSP00000374370:R498C	R	-	1	0	SPTB	64331960	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.002000	0.88514	2.711000	0.92665	0.561000	0.74099	CGC		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			16	49	0	0	0	0	16	49				
PCNX	22990	broad.mit.edu	37	14	71540300	71540300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:71540300G>A	ENST00000304743.2	+	27	5337	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K	PCNX_ENST00000238570.5_Missense_Mutation_p.E1559K|PCNX_ENST00000439984.3_Missense_Mutation_p.E1520K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1631						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATTACTGAAGGTGTAGA	0.448																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(4891-4893)GAA>AAA		pecanex-like 1							197.0	168.0	178.0					14																	71540300		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540300G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4891G>A	14.37:g.71540300G>A	ENSP00000304192:p.Glu1631Lys					PCNX_uc010are.1_Missense_Mutation_p.E1520K|PCNX_uc010arf.1_Missense_Mutation_p.E419K	p.E1631K	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	27	5337	+			1631					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4891G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212093	0.95069	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12774	3.03;3.12;2.65	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	M	0.85945	2.785	0.37710	D	0.924521	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.76071	0.987;0.984;0.98	T	0.54330	-0.8310	10	0.72032	D	0.01	.	18.7985	0.92007	0.0:0.0:1.0:0.0	.	1559;1520;1631	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	K	1631;1559;1520	ENSP00000304192:E1631K;ENSP00000238570:E1559K;ENSP00000396617:E1520K	ENSP00000238570:E1559K	E	+	1	0	PCNX	70610053	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.208000	0.95075	2.751000	0.94390	0.650000	0.86243	GAA		0.448	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	62	0	0	0	0	22	62				
FBLN5	10516	broad.mit.edu	37	14	92403316	92403316	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:92403316C>T	ENST00000342058.4	-	4	947	c.354G>A	c.(352-354)caG>caA	p.Q118Q	FBLN5_ENST00000556154.1_Silent_p.Q123Q|FBLN5_ENST00000267620.10_Silent_p.Q159Q	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	118					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTCATCCATCTGGTATCCAA	0.552																																						uc001xzx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(352-354)CAG>CAA		fibulin 5 precursor							133.0	130.0	131.0					14																	92403316		2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92403316C>T	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.354G>A	14.37:g.92403316C>T						FBLN5_uc010aud.2_Silent_p.Q123Q|FBLN5_uc010aue.2_Silent_p.Q159Q	p.Q118Q	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			4	827	-		all_cancers(154;0.0722)	118					O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.354G>A	CCDS9898.1																																																																																				0.552	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			26	81	0	0	0	0	26	81				
GANC	2595	broad.mit.edu	37	15	42584947	42584947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:42584947C>G	ENST00000318010.8	+	5	584	c.344C>G	c.(343-345)tCt>tGt	p.S115C	GANC_ENST00000566442.1_Missense_Mutation_p.S115C	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	115					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	ATTTCATGCTCTGGGGACACA	0.423																																						uc001zpi.2		NA																	0				central_nervous_system(2)	2						c.(343-345)TCT>TGT		glucosidase, alpha; neutral C							148.0	128.0	135.0					15																	42584947		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42584947C>G	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.344C>G	15.37:g.42584947C>G	ENSP00000326227:p.Ser115Cys					GANC_uc001zph.2_Missense_Mutation_p.S115C|GANC_uc001zpj.1_5'UTR	p.S115C	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	5	658	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	115					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.344C>G	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	6.117	0.389848	0.11581	.	.	ENSG00000214013	ENST00000318010	T	0.18960	2.18	5.18	4.25	0.50352	Glycoside hydrolase-type carbohydrate-binding (1);	4.713630	0.00424	N	0.000062	T	0.27900	0.0687	L	0.55481	1.735	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.10450	0.005;0.004	T	0.28618	-1.0038	10	0.62326	D	0.03	-1.5255	10.131	0.42678	0.1925:0.6781:0.1294:0.0	.	115;115	Q8TET4;Q2M2A3	GANC_HUMAN;.	C	115	ENSP00000326227:S115C	ENSP00000326227:S115C	S	+	2	0	GANC	40372239	0.017000	0.18338	0.487000	0.27428	0.080000	0.17528	1.429000	0.34903	1.368000	0.46115	0.585000	0.79938	TCT		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		16	60	0	0	0	0	16	60				
TP53BP1	7158	broad.mit.edu	37	15	43766895	43766895	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:43766895G>A	ENST00000263801.3	-	10	1393	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.P386S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P386S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P386S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	381					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCTGTGGGACTGCTAGGA	0.413								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(1141-1143)CCC>TCC	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							89.0	91.0	90.0					15																	43766895		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43766895G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1141C>T	15.37:g.43766895G>A	ENSP00000263801:p.Pro381Ser					TP53BP1_uc010udp.1_Missense_Mutation_p.P381S|TP53BP1_uc001zrq.3_Missense_Mutation_p.P386S|TP53BP1_uc001zrr.3_Missense_Mutation_p.P386S|TP53BP1_uc010udq.1_Missense_Mutation_p.P386S	p.P381S	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	10	1289	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	381					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1141C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616124	0.87359	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.64260	0.87;0.86;0.71;0.85;-0.09	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.73962	2.25	0.52501	D	0.999959	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.998	T	0.78453	-0.2198	10	0.51188	T	0.08	-9.637	16.1635	0.81734	0.0:0.0:1.0:0.0	.	386;381;386;386	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	381;386;386;386;386	ENSP00000263801:P381S;ENSP00000371475:P386S;ENSP00000371470:P386S;ENSP00000393497:P386S;ENSP00000388028:P386S	ENSP00000263801:P381S	P	-	1	0	TP53BP1	41554187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.255000	0.65462	2.894000	0.99253	0.655000	0.94253	CCC		0.413	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			9	20	0	0	0	0	9	20				
SMAD3	4088	broad.mit.edu	37	15	67482855	67482855	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67482855G>A	ENST00000327367.4	+	9	1569	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	SMAD3_ENST00000540846.2_Missense_Mutation_p.R315H|SMAD3_ENST00000537194.2_Missense_Mutation_p.R225H|SMAD3_ENST00000439724.3_Missense_Mutation_p.R376H	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	420	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCAAGCATCCGCTGTTCCAGT	0.547																																						uc002aqj.2		NA																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1258-1260)CGC>CAC		mothers against decapentaplegic homolog 3							57.0	49.0	52.0					15																	67482855		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67482855G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1259G>A	15.37:g.67482855G>A	ENSP00000332973:p.Arg420His					SMAD3_uc010ujr.1_Missense_Mutation_p.R315H|SMAD3_uc010ujs.1_Missense_Mutation_p.R376H|SMAD3_uc010ujt.1_Missense_Mutation_p.R225H	p.R420H	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	9	1557	+			420			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.1259G>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516836	0.64634	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98914	-3.72;-4.26;-3.69;-5.23	4.97	4.97	0.65823	SMAD domain-like (1);SMAD domain, Dwarfin-type (1);	0.056069	0.85682	D	0.000000	D	0.96568	0.8880	L	0.31294	0.92	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	D	0.93907	0.7193	10	0.62326	D	0.03	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	376;420	B7Z4Z5;P84022	.;SMAD3_HUMAN	H	420;420;315;376;225	ENSP00000332973:R420H;ENSP00000437757:R315H;ENSP00000401133:R376H;ENSP00000445348:R225H	ENSP00000332973:R420H	R	+	2	0	SMAD3	65269909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.667000	0.83888	2.318000	0.78349	0.561000	0.74099	CGC		0.547	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		4	14	0	0	0	0	4	14				
IQCH	64799	broad.mit.edu	37	15	67664726	67664726	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67664726C>T	ENST00000335894.4	+	9	1097	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	IQCH_ENST00000546225.1_Missense_Mutation_p.S92L|IQCH_ENST00000358767.3_Missense_Mutation_p.S171L|IQCH_ENST00000360277.4_Missense_Mutation_p.S96L	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	344										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GACCTTCTCTCAGTGTTAGAG	0.443																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(1030-1032)TCA>TTA		IQ motif containing H isoform 1							97.0	104.0	102.0					15																	67664726		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67664726C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1031C>T	15.37:g.67664726C>T	ENSP00000336861:p.Ser344Leu					IQCH_uc010ujv.1_Missense_Mutation_p.S163L|IQCH_uc002aqn.1_Missense_Mutation_p.S171L|IQCH_uc002aqq.1_Missense_Mutation_p.S92L|IQCH_uc002aqp.1_Missense_Mutation_p.S96L	p.S344L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	1078	+			344					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1031C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	8.409	0.843821	0.16963	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.49720	0.78;0.82;0.77;0.81	5.53	5.53	0.82687	.	0.216661	0.41097	D	0.000952	T	0.57080	0.2029	M	0.64997	1.995	0.25194	N	0.990103	D;P;P;B;P	0.63046	0.992;0.86;0.86;0.044;0.476	P;P;P;B;B	0.54544	0.755;0.536;0.536;0.067;0.178	T	0.53927	-0.8369	10	0.37606	T	0.19	-11.8723	13.0961	0.59192	0.0:0.9263:0.0:0.0737	.	171;92;96;344;171	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	L	171;92;344;96	ENSP00000351617:S171L;ENSP00000444118:S92L;ENSP00000336861:S344L;ENSP00000353419:S96L	ENSP00000336861:S344L	S	+	2	0	IQCH	65451780	0.996000	0.38824	0.034000	0.17996	0.036000	0.12997	3.903000	0.56318	2.750000	0.94351	0.591000	0.81541	TCA		0.443	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		22	56	0	0	0	0	22	56				
PEAK1	79834	broad.mit.edu	37	15	77473608	77473608	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:77473608C>T	ENST00000560626.2	-	4	1136	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E221K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E221K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	221					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGGCCCCCTTCATTACTAATC	0.473																																						uc002bcm.2		NA																	0					0						c.(661-663)GAA>AAA		NKF3 kinase family member							155.0	148.0	150.0					15																	77473608		1902	4109	6011	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473608C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.661G>A	15.37:g.77473608C>T	ENSP00000452796:p.Glu221Lys					SGK269_uc002bcn.2_Missense_Mutation_p.E221K	p.E221K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	969	-			221					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.661G>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228590	0.79576	.	.	ENSG00000173517	ENST00000312493	T	0.74209	-0.82	5.42	5.42	0.78866	.	0.000000	0.33980	U	0.004373	T	0.80341	0.4605	L	0.27053	0.805	0.58432	D	0.999997	D	0.76494	0.999	D	0.77004	0.989	T	0.82839	-0.0259	10	0.87932	D	0	-8.2251	19.2384	0.93871	0.0:1.0:0.0:0.0	.	221	Q9H792	PEAK1_HUMAN	K	221	ENSP00000309230:E221K	ENSP00000309230:E221K	E	-	1	0	AC087465.1	75260663	1.000000	0.71417	0.998000	0.56505	0.650000	0.38633	7.666000	0.83877	2.549000	0.85964	0.650000	0.86243	GAA		0.473	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			29	137	0	0	0	0	29	137				
PRC1	9055	broad.mit.edu	37	15	91527353	91527353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:91527353C>T	ENST00000361188.5	-	3	1373	c.162G>A	c.(160-162)atG>atA	p.M54I	PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.M54I|PRC1_ENST00000394249.3_Missense_Mutation_p.M54I					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCAGCAATCATCATATCCA	0.433																																						uc002bqm.2		NA																	0				ovary(1)|skin(1)	2						c.(160-162)ATG>ATA		protein regulator of cytokinesis 1 isoform 1							222.0	222.0	222.0					15																	91527353		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91527353C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.162G>A	15.37:g.91527353C>T	ENSP00000354679:p.Met54Ile					PRC1_uc002bqn.2_Missense_Mutation_p.M54I|PRC1_uc002bqo.2_Missense_Mutation_p.M54I|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.M2I	p.M54I	NM_003981	NP_003972	O43663	PRC1_HUMAN			3	319	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		54			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.162G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693146	0.88735	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188	T;T;T	0.27557	1.66;1.66;1.66	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.72118	2.19	0.80722	D	1	B;P;P;D	0.54207	0.143;0.855;0.922;0.965	B;P;P;P	0.61722	0.123;0.721;0.657;0.893	T	0.45469	-0.9259	10	0.32370	T	0.25	.	17.9364	0.89013	0.0:1.0:0.0:0.0	.	2;54;54;54	B4E238;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	I	54	ENSP00000377793:M54I;ENSP00000354618:M54I;ENSP00000354679:M54I	ENSP00000354679:M54I	M	-	3	0	PRC1	89328357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.365000	0.73090	2.581000	0.87130	0.561000	0.74099	ATG		0.433	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		50	274	0	0	0	0	50	274				
MEFV	4210	broad.mit.edu	37	16	3304662	3304662	+	Missense_Mutation	SNP	C	C	T	rs539290358		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:3304662C>T	ENST00000219596.1	-	2	445	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	136					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCTCCGCCCCCGTACGGCCGA	0.701																																						uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(406-408)GGG>AGG		Mediterranean fever protein	Colchicine(DB01394)						15.0	17.0	16.0					16																	3304662		2171	4233	6404	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304662C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.406G>A	16.37:g.3304662C>T	ENSP00000219596:p.Gly136Arg						p.G136R	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	446	-			136					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.406G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788674	0.49997	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.65732	-0.17	4.39	2.41	0.29592	.	0.883151	0.09693	N	0.768100	T	0.61540	0.2355	L	0.29908	0.895	0.09310	N	0.999999	D	0.71674	0.998	P	0.56823	0.807	T	0.50092	-0.8868	10	0.72032	D	0.01	-20.5777	7.2533	0.26162	0.0:0.799:0.0:0.201	.	136	O15553	MEFV_HUMAN	R	136	ENSP00000219596:G136R	ENSP00000219596:G136R	G	-	1	0	MEFV	3244663	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.260000	0.18424	0.773000	0.33404	-0.253000	0.11424	GGG		0.701	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		5	31	0	0	0	0	5	31				
ERCC4	2072	broad.mit.edu	37	16	14041533	14041533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:14041533G>C	ENST00000311895.7	+	11	2089	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	694	ERCC4.|Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATTTCGAAGTGAGCTTCCATC	0.468			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2		NA	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2080-2082)GAG>CAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							140.0	127.0	132.0					16																	14041533		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14041533G>C	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2080G>C	16.37:g.14041533G>C	ENSP00000310520:p.Glu694Gln					ERCC4_uc010uyz.1_Missense_Mutation_p.E244Q	p.E694Q	NM_005236	NP_005227	Q92889	XPF_HUMAN			11	2089	+			694			ERCC4.|Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.2080G>C	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096965	0.94197	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.22743	1.94	5.58	5.58	0.84498	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20505	-1.0273	10	0.39692	T	0.17	-30.5689	18.5707	0.91135	0.0:0.0:1.0:0.0	.	694	Q92889	XPF_HUMAN	Q	694;682	ENSP00000310520:E694Q	ENSP00000310520:E694Q	E	+	1	0	ERCC4	13949034	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.200000	0.95010	2.624000	0.88883	0.655000	0.94253	GAG		0.468	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		7	122	0	0	0	0	7	122				
DNAH3	55567	broad.mit.edu	37	16	20976685	20976685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:20976685C>G	ENST00000261383.3	-	53	8520	c.8521G>C	c.(8521-8523)Gag>Cag	p.E2841Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2841	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAAGACTCTCCAAGAATTTC	0.423																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(8521-8523)GAG>CAG		dynein, axonemal, heavy chain 3							76.0	80.0	79.0					16																	20976685		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976685C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8521G>C	16.37:g.20976685C>G	ENSP00000261383:p.Glu2841Gln					DNAH3_uc010vbd.1_Missense_Mutation_p.E276Q	p.E2841Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8521	-			2841			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8521G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	3.669	-0.067870	0.07228	.	.	ENSG00000158486	ENST00000261383	T	0.74947	-0.89	5.76	3.83	0.44106	Dynein heavy chain, coiled coil stalk (1);	0.204148	0.41294	D	0.000902	T	0.52075	0.1712	N	0.12637	0.245	0.80722	D	1	B	0.31026	0.304	B	0.26614	0.071	T	0.43310	-0.9399	10	0.11485	T	0.65	.	12.2362	0.54516	0.0:0.8631:0.0:0.1369	.	2841	Q8TD57	DYH3_HUMAN	Q	2841	ENSP00000261383:E2841Q	ENSP00000261383:E2841Q	E	-	1	0	DNAH3	20884186	0.973000	0.33851	0.979000	0.43373	0.987000	0.75469	2.465000	0.45075	0.810000	0.34279	0.555000	0.69702	GAG		0.423	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	151	0	0	0	0	4	151				
DNAH3	55567	broad.mit.edu	37	16	21069481	21069481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:21069481G>C	ENST00000261383.3	-	27	3849	c.3850C>G	c.(3850-3852)Cag>Gag	p.Q1284E	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q1284E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1284	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAACCACCTGTCCAGGCCAC	0.483																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3850-3852)CAG>GAG		dynein, axonemal, heavy chain 3							82.0	81.0	81.0					16																	21069481		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21069481G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3850C>G	16.37:g.21069481G>C	ENSP00000261383:p.Gln1284Glu						p.Q1284E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	27	3850	-			1284			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3850C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994248	0.93167	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63096	-0.02;-0.02	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	H	0.95470	3.675	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89847	0.4007	10	0.87932	D	0	.	19.4624	0.94922	0.0:0.0:1.0:0.0	.	1284	Q8TD57	DYH3_HUMAN	E	1284	ENSP00000261383:Q1284E;ENSP00000394245:Q1284E	ENSP00000261383:Q1284E	Q	-	1	0	DNAH3	20976982	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.776000	0.99001	2.677000	0.91161	0.585000	0.79938	CAG		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	48	0	0	0	0	8	48				
ZNF785	146540	broad.mit.edu	37	16	30594258	30594258	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:30594258C>T	ENST00000395216.2	-	3	1000	c.841G>A	c.(841-843)Gag>Aag	p.E281K	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E266K|AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TAGGGCTTCTCGCCCGTGTGC	0.642																																						uc002dyw.1		NA																	0				ovary(1)	1						c.(841-843)GAG>AAG		zinc finger protein 785							51.0	49.0	49.0					16																	30594258		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594258C>T	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.841G>A	16.37:g.30594258C>T	ENSP00000378642:p.Glu281Lys					uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.E266K|ZNF785_uc010vez.1_Missense_Mutation_p.E246K	p.E281K	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN			3	919	-			281					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.841G>A	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300815	0.81136	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.24350	1.86;1.86	4.25	0.0588	0.14329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	L	0.39020	1.185	0.23351	N	0.997855	B;P;B	0.46912	0.2;0.886;0.166	B;P;B	0.53401	0.084;0.725;0.05	T	0.17868	-1.0355	9	0.62326	D	0.03	.	7.9812	0.30185	0.0:0.6424:0.0:0.3576	.	246;281;266	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	K	266;246;281	ENSP00000420340:E266K;ENSP00000378642:E281K	ENSP00000378642:E281K	E	-	1	0	ZNF785	30501759	0.748000	0.28294	0.082000	0.20525	0.815000	0.46073	1.533000	0.36040	-0.094000	0.12374	0.644000	0.83932	GAG		0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		5	44	0	0	0	0	5	44				
STX4	6810	broad.mit.edu	37	16	31045559	31045559	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:31045559C>T	ENST00000313843.3	+	3	460	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.R47W	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	49					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)		p.R49R(1)		NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCGGACAATTCGGCAGACTAT	0.577																																						uc002eal.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)CGG>TGG		syntaxin 4							126.0	131.0	129.0					16																	31045559		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31045559C>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.145C>T	16.37:g.31045559C>T	ENSP00000317714:p.Arg49Trp					STX4_uc002eak.2_Missense_Mutation_p.R47W|STX4_uc002eam.2_5'UTR	p.R49W	NM_004604	NP_004595	Q12846	STX4_HUMAN			3	369	+			49			Cytoplasmic (Potential).|Potential.		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.145C>T	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949740	0.53186	.	.	ENSG00000103496	ENST00000457779;ENST00000394998;ENST00000313843	T;T;T	0.22743	1.94;1.94;1.94	5.68	5.68	0.88126	t-SNARE (1);Syntaxin, N-terminal (2);	0.056692	0.64402	D	0.000001	T	0.52370	0.1730	M	0.83774	2.66	0.41873	D	0.990284	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.57087	-0.7871	10	0.87932	D	0	.	18.6306	0.91358	0.0:1.0:0.0:0.0	.	49;47	Q12846;A8MXY0	STX4_HUMAN;.	W	101;47;49	ENSP00000390788:R101W;ENSP00000378447:R47W;ENSP00000317714:R49W	ENSP00000317714:R49W	R	+	1	2	STX4	30953060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.333000	0.59285	2.700000	0.92200	0.558000	0.71614	CGG		0.577	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		34	179	0	0	0	0	34	179				
CNGB1	1258	broad.mit.edu	37	16	57994394	57994394	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:57994394G>A	ENST00000251102.8	-	9	635	c.575C>T	c.(574-576)tCa>tTa	p.S192L	CNGB1_ENST00000311183.4_Missense_Mutation_p.S192L|CNGB1_ENST00000564448.1_Intron	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	192	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACCTGGGTCTGAGGCAGCACC	0.647																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(574-576)TCA>TTA		cyclic nucleotide gated channel beta 1 isoform							38.0	41.0	40.0					16																	57994394		1993	4177	6170	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57994394G>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.575C>T	16.37:g.57994394G>A	ENSP00000251102:p.Ser192Leu					CNGB1_uc010cdh.2_Intron|CNGB1_uc002emu.2_Missense_Mutation_p.S192L	p.S192L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			9	640	-			192	Missing (in Ref. 4; AAC04830).		Pro-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.575C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.363073	0.01235	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96073	-3.9;1.06	3.14	-0.44	0.12261	.	1.645770	0.04642	N	0.405533	D	0.82305	0.5008	N	0.01168	-0.975	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.78518	-0.2173	10	0.02654	T	1	.	5.8327	0.18588	0.6094:0.0:0.3906:0.0	.	192;192	Q14028-3;Q14028	.;CNGB1_HUMAN	L	192	ENSP00000251102:S192L;ENSP00000311670:S192L	ENSP00000251102:S192L	S	-	2	0	CNGB1	56551895	0.000000	0.05858	0.237000	0.24090	0.030000	0.12068	-0.194000	0.09559	-0.121000	0.11787	-0.888000	0.02935	TCA		0.647	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		3	20	0	0	0	0	3	20				
ZFHX3	463	broad.mit.edu	37	16	72821592	72821592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72821592G>A	ENST00000268489.5	-	10	11255	c.10583C>T	c.(10582-10584)tCg>tTg	p.S3528L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2614L|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3528					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGTGGTACGAgccgccgcc	0.692																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(10582-10584)TCG>TTG		zinc finger homeobox 3 isoform A							63.0	55.0	58.0					16																	72821592		2198	4299	6497	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821592G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10583C>T	16.37:g.72821592G>A	ENSP00000268489:p.Ser3528Leu					uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.S2614L	p.S3528L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11256	-		Ovarian(137;0.13)	3528					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10583C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265143	0.40095	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.81163	-1.46;-1.46	4.22	4.22	0.49857	Zinc finger, U1-type (1);	0.000000	0.39475	N	0.001350	T	0.60183	0.2249	N	0.03608	-0.345	0.38614	D	0.950976	B	0.02656	0.0	B	0.01281	0.0	T	0.59925	-0.7362	10	0.34782	T	0.22	.	12.8914	0.58073	0.0:0.0:0.8366:0.1634	.	3528	Q15911	ZFHX3_HUMAN	L	3528;2614	ENSP00000268489:S3528L;ENSP00000438926:S2614L	ENSP00000268489:S3528L	S	-	2	0	ZFHX3	71379093	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.680000	0.61656	2.058000	0.61347	0.557000	0.71058	TCG		0.692	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	26	0	0	0	0	11	26				
ZFHX3	463	broad.mit.edu	37	16	72992974	72992974	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72992974G>A	ENST00000268489.5	-	2	1743	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	357					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGCCTATGAGGTTAGCTG	0.507																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(1069-1071)CTC>CTT		zinc finger homeobox 3 isoform A							58.0	70.0	66.0					16																	72992974		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992974G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1071C>T	16.37:g.72992974G>A						ZFHX3_uc002fcl.2_Intron	p.L357L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1744	-		Ovarian(137;0.13)	357					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.1071C>T	CCDS10908.1																																																																																				0.507	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		24	77	0	0	0	0	24	77				
SPG7	6687	broad.mit.edu	37	16	89619531	89619531	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:89619531G>A	ENST00000268704.2	+	14	1939	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	642					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTCCTTCAACGAGGTCACTTC	0.602																																						uc002fnj.2		NA																	0					0						c.(1924-1926)GAG>AAG		spastic paraplegia 7 isoform 1							32.0	27.0	29.0					16																	89619531		2196	4300	6496	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89619531G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1924G>A	16.37:g.89619531G>A	ENSP00000268704:p.Glu642Lys					SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_Missense_Mutation_p.E51K	p.E642K	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	14	1945	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	642			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1924G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	A	8.068	0.769657	0.15983	.	.	ENSG00000197912	ENST00000268704	D	0.85955	-2.05	5.93	4.82	0.62117	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.255532	0.49916	N	0.000131	T	0.68384	0.2995	N	0.11789	0.175	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55302	-0.8162	10	0.09843	T	0.71	-20.8868	8.2905	0.31954	0.798:0.1334:0.0686:0.0	.	642	Q9UQ90	SPG7_HUMAN	K	642	ENSP00000268704:E642K	ENSP00000268704:E642K	E	+	1	0	SPG7	88147032	1.000000	0.71417	0.848000	0.33437	0.005000	0.04900	4.883000	0.63128	0.478000	0.27488	-0.361000	0.07541	GAG		0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		3	10	0	0	0	0	3	10				
CAMKK1	84254	broad.mit.edu	37	17	3773161	3773161	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:3773161G>C	ENST00000348335.2	-	13	1294	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CAMKK1_ENST00000158166.5_Silent_p.L420L|CAMKK1_ENST00000381769.2_Silent_p.L409L|CAMKK1_ENST00000381771.2_Silent_p.L420L	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCAGGTCCTTGAGCTCCTCGC	0.587																																						uc002fwt.2		NA																	0				ovary(1)	1						c.(1144-1146)CTC>CTG		calcium/calmodulin-dependent protein kinase 1							136.0	119.0	125.0					17																	3773161		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3773161G>C	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1146C>G	17.37:g.3773161G>C						CAMKK1_uc002fwu.2_Silent_p.L382L|CAMKK1_uc002fwv.2_Silent_p.L420L	p.L382L	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	13	1240	-			382			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.1146C>G	CCDS11038.1																																																																																				0.587	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		9	40	0	0	0	0	9	40				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	29	0	0	0	0	10	29				
RPL26	6154	broad.mit.edu	37	17	8285520	8285520	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8285520C>G	ENST00000584164.1	-	2	500	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	RPL26_ENST00000293842.5_Missense_Mutation_p.E37Q|RPL26_ENST00000582556.1_Missense_Mutation_p.E37Q|RP11-849F2.7_ENST00000582471.1_Missense_Mutation_p.E37Q|RPL26_ENST00000583011.1_Missense_Mutation_p.E37Q|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000578812.1_Missense_Mutation_p.E37Q|RP11-849F2.5_ENST00000579904.1_RNA|RP11-849F2.5_ENST00000585181.1_RNA			P61254	RL26_HUMAN	ribosomal protein L26	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			skin(1)|urinary_tract(1)	2						TGTCTCAGCTCTTTGGAAAGA	0.448																																						uc002glh.1		NA																	0					0						c.(109-111)GAG>CAG		ribosomal protein L26							118.0	104.0	109.0					17																	8285520		2203	4300	6503	SO:0001583	missense	6154				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr17:8285520C>G		CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"""L ribosomal proteins"""	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.109G>C	17.37:g.8285520C>G	ENSP00000463784:p.Glu37Gln						p.E37Q	NM_000987	NP_000978	P61254	RL26_HUMAN			2	205	-			37					B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	ENST00000584164.1	37	c.109G>C	CCDS11142.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330224	0.60743	.	.	ENSG00000161970	ENST00000293842	.	.	.	5.17	5.17	0.71159	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.93594	3.435	0.80722	D	1	D	0.54397	0.966	P	0.59221	0.854	D	0.88509	0.3088	9	0.72032	D	0.01	-7.326	16.5144	0.84295	0.0:1.0:0.0:0.0	.	37	P61254	RL26_HUMAN	Q	37	.	ENSP00000293842:E37Q	E	-	1	0	RPL26	8226245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.736000	0.84948	2.562000	0.86427	0.643000	0.83706	GAG		0.448	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442322.1	NM_000987		9	48	0	0	0	0	9	48				
MYH10	4628	broad.mit.edu	37	17	8387530	8387530	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8387530C>T	ENST00000269243.4	-	35	5146	c.5008G>A	c.(5008-5010)Gag>Aag	p.E1670K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1686K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1701K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1691K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1670					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCAAAAATCTCATCTCTGGAT	0.373																																						uc002gll.2		NA																	0				ovary(2)	2						c.(5008-5010)GAG>AAG		myosin, heavy polypeptide 10, non-muscle							102.0	107.0	106.0					17																	8387530		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8387530C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5008G>A	17.37:g.8387530C>T	ENSP00000269243:p.Glu1670Lys					MYH10_uc002glm.2_Missense_Mutation_p.E1701K|MYH10_uc010cnx.2_Missense_Mutation_p.E1679K	p.E1670K	NM_005964	NP_005955	P35580	MYH10_HUMAN			35	5104	-			1670			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5008G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166041	0.94768	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.98	4.98	0.66077	Myosin tail (1);	0.049856	0.85682	D	0.000000	D	0.91382	0.7281	M	0.93328	3.405	0.80722	D	1	P;P;P	0.44260	0.83;0.527;0.582	P;P;P	0.56216	0.794;0.575;0.7	D	0.93135	0.6536	10	0.87932	D	0	.	18.7956	0.91993	0.0:1.0:0.0:0.0	.	1679;1701;1670	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1670;1701;1691;1686	ENSP00000269243:E1670K;ENSP00000353590:E1701K;ENSP00000379539:E1691K;ENSP00000369315:E1686K	ENSP00000269243:E1670K	E	-	1	0	MYH10	8328255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	2.755000	0.94549	0.655000	0.94253	GAG		0.373	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			11	71	0	0	0	0	11	71				
PIK3R5	23533	broad.mit.edu	37	17	8792140	8792140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8792140C>T	ENST00000447110.1	-	10	1088	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E322K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E322K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	322				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcttcctcctcttcATCATCT	0.587																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(964-966)GAG>AAG		phosphoinositide-3-kinase, regulatory subunit 5							67.0	69.0	68.0					17																	8792140		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792140C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.964G>A	17.37:g.8792140C>T	ENSP00000392812:p.Glu322Lys					PIK3R5_uc010vuz.1_Missense_Mutation_p.E322K|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.K270K|PIK3R5_uc010cob.1_5'UTR	p.E322K	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			10	1031	-			322	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.964G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.666894	0.29604	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.84298	-1.83	4.44	2.3	0.28687	.	0.336258	0.22416	N	0.060353	T	0.75095	0.3803	N	0.24115	0.695	0.46376	D	0.999019	B	0.13145	0.007	B	0.16722	0.016	T	0.66428	-0.5926	10	0.36615	T	0.2	-5.7892	12.6938	0.56992	0.0:0.6821:0.3179:0.0	.	322	Q8WYR1	PI3R5_HUMAN	K	322	ENSP00000392812:E322K	ENSP00000269300:E322K	E	-	1	0	PIK3R5	8732865	0.829000	0.29322	0.789000	0.31954	0.570000	0.35934	1.998000	0.40796	0.512000	0.28257	0.639000	0.83563	GAG		0.587	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	25	0	0	0	0	3	25				
MYH1	4619	broad.mit.edu	37	17	10408181	10408181	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:10408181T>G	ENST00000226207.5	-	22	2731	c.2637A>C	c.(2635-2637)gaA>gaC	p.E879D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	879					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAACCATTTTTTCTTCCAGCT	0.423																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2635-2637)GAA>GAC		myosin, heavy chain 1, skeletal muscle, adult							120.0	107.0	111.0					17																	10408181		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408181T>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2637A>C	17.37:g.10408181T>G	ENSP00000226207:p.Glu879Asp					uc002gml.1_Intron	p.E879D	NM_005963	NP_005954	P12882	MYH1_HUMAN			22	2731	-			879			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2637A>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304471	0.23736	.	.	ENSG00000109061	ENST00000226207	D	0.83755	-1.76	5.48	0.363	0.16118	.	0.000000	0.43919	U	0.000510	T	0.80539	0.4642	M	0.78223	2.4	0.37418	D	0.913526	B	0.14012	0.009	B	0.17433	0.018	T	0.75542	-0.3281	10	0.52906	T	0.07	.	10.1745	0.42931	0.0:0.4678:0.0:0.5322	.	879	P12882	MYH1_HUMAN	D	879	ENSP00000226207:E879D	ENSP00000226207:E879D	E	-	3	2	MYH1	10348906	0.560000	0.26570	0.999000	0.59377	0.245000	0.25701	-0.186000	0.09670	0.058000	0.16222	0.533000	0.62120	GAA		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		13	54	0	0	0	0	13	54				
ZNF287	57336	broad.mit.edu	37	17	16456726	16456726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:16456726C>A	ENST00000395824.1	-	6	1347	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S	ZNF287_ENST00000395825.3_Missense_Mutation_p.A244S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	237					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGCTTGGGCTTTAGTTTCC	0.313																																						uc002gqi.2		NA																	0					0						c.(730-732)GCC>TCC		zinc finger protein 287							65.0	67.0	66.0					17																	16456726		2115	4240	6355	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456726C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.730G>T	17.37:g.16456726C>A	ENSP00000379168:p.Ala244Ser						p.A244S	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1183	-			237					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.730G>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.783902	0.00628	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.04917	3.53;3.53	4.35	1.29	0.21616	.	0.564181	0.16232	N	0.223562	T	0.02267	0.0070	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.09377	0.004	T	0.45160	-0.9280	10	0.11182	T	0.66	.	1.3406	0.02153	0.1786:0.4558:0.1734:0.1921	.	237	Q9HBT7	ZN287_HUMAN	S	244	ENSP00000379169:A244S;ENSP00000379168:A244S	ENSP00000379168:A244S	A	-	1	0	ZNF287	16397451	0.000000	0.05858	0.440000	0.26846	0.207000	0.24258	-1.549000	0.02182	0.358000	0.24211	0.585000	0.79938	GCC		0.313	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			21	61	1	0	3.62e-10	3.93e-10	21	61				
FLII	2314	broad.mit.edu	37	17	18155348	18155348	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:18155348C>A	ENST00000327031.4	-	11	1436	c.1211G>T	c.(1210-1212)gGt>gTt	p.G404V	FLII_ENST00000579294.1_Missense_Mutation_p.G393V|FLII_ENST00000545457.2_Missense_Mutation_p.G350V|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000578558.1_Missense_Mutation_p.G404V|FLII_ENST00000379450.4_Missense_Mutation_p.G319V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	404	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGGAGAGGCACCCGCTAGCCG	0.637																																						uc002gsr.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1210-1212)GGT>GTT		flightless I homolog							57.0	65.0	62.0					17																	18155348		2203	4296	6499	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18155348C>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1211G>T	17.37:g.18155348C>A	ENSP00000324573:p.Gly404Val					FLII_uc002gsq.1_Missense_Mutation_p.G276V|FLII_uc010cpy.1_Missense_Mutation_p.G393V|FLII_uc010vxn.1_Missense_Mutation_p.G373V|FLII_uc010vxo.1_Missense_Mutation_p.G350V|FLII_uc002gss.1_Missense_Mutation_p.G404V	p.G404V	NM_002018	NP_002009	Q13045	FLII_HUMAN			11	1262	-	all_neural(463;0.228)		404			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.1211G>T	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592145	0.66219	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.38401	1.14;1.21	5.81	4.83	0.62350	.	0.167554	0.37053	N	0.002279	T	0.63307	0.2500	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;0.999;0.96;1.0	P;P;D;P;D	0.91635	0.892;0.892;0.944;0.53;0.999	T	0.70055	-0.4977	10	0.87932	D	0	-18.0665	16.2423	0.82423	0.1339:0.8661:0.0:0.0	.	319;319;404;404;373	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	V	404;404;319	ENSP00000324573:G404V;ENSP00000368763:G319V	ENSP00000324573:G404V	G	-	2	0	FLII	18096073	1.000000	0.71417	0.098000	0.21074	0.080000	0.17528	7.447000	0.80620	1.426000	0.47256	0.655000	0.94253	GGT		0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		11	57	1	0	5.04e-11	5.48e-11	11	57				
SLC6A4	6532	broad.mit.edu	37	17	28548952	28548952	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:28548952G>C	ENST00000401766.2	-	2	537	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	SLC6A4_ENST00000261707.3_Missense_Mutation_p.Q9E			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	9					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AGCTGCTTCTGAGAATTCAAG	0.502																																						uc002hey.3		NA																	0				skin(3)|ovary(1)	4						c.(25-27)CAG>GAG		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						68.0	61.0	63.0					17																	28548952		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548952G>C	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.25C>G	17.37:g.28548952G>C	ENSP00000385822:p.Gln9Glu						p.Q9E	NM_001045	NP_001036	P31645	SC6A4_HUMAN			3	569	-			9			Cytoplasmic (Potential).		Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.25C>G	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	8.813	0.935671	0.18206	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.73047	-0.71;-0.71	5.96	4.95	0.65309	.	1.050440	0.07363	N	0.884498	T	0.57533	0.2060	N	0.19112	0.55	0.25021	N	0.991337	B	0.06786	0.001	B	0.04013	0.001	T	0.41574	-0.9501	10	0.62326	D	0.03	.	8.1984	0.31411	0.0:0.1239:0.6273:0.2488	.	9	P31645	SC6A4_HUMAN	E	51;9;9	ENSP00000385822:Q9E;ENSP00000261707:Q9E	ENSP00000261707:Q9E	Q	-	1	0	SLC6A4	25573078	1.000000	0.71417	0.999000	0.59377	0.044000	0.14063	2.380000	0.44327	2.826000	0.97356	0.655000	0.94253	CAG		0.502	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		15	41	0	0	0	0	15	41				
ACACA	31	broad.mit.edu	37	17	35614787	35614787	+	Splice_Site	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:35614787C>T	ENST00000394406.2	-	14	1743	c.1553G>A	c.(1552-1554)gGt>gAt	p.G518D	ACACA_ENST00000335166.5_Splice_Site_p.G440D|ACACA_ENST00000360679.3_Splice_Site_p.G460D|ACACA_ENST00000353139.5_Splice_Site_p.G555D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	518	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGCTTAAAACCCTGTTAGAG	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1552-1554)GGT>GAT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						74.0	73.0	73.0					17																	35614787		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614787C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1552-1G>A	17.37:g.35614787C>T						ACACA_uc002hnk.2_Missense_Mutation_p.G440D|ACACA_uc002hnl.2_Missense_Mutation_p.G460D|ACACA_uc002hnn.2_Missense_Mutation_p.G518D|ACACA_uc002hno.2_Missense_Mutation_p.G555D|ACACA_uc010cuz.2_Missense_Mutation_p.G518D	p.G518D	NM_198836	NP_942133	Q13085	ACACA_HUMAN			14	1744	-		Breast(25;0.00157)|Ovarian(249;0.15)	518			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1553G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079700	0.94050	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.84	5.84	0.93424	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.77820	2.39	0.80722	D	1	P;D;D	0.76494	0.948;0.999;0.999	P;D;D	0.79784	0.844;0.993;0.988	T	0.67035	-0.5772	10	0.51188	T	0.08	-14.8728	19.1261	0.93384	0.0:1.0:0.0:0.0	.	555;518;460	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	D	555;460;518;542;440	ENSP00000344789:G555D;ENSP00000353898:G460D;ENSP00000377928:G518D;ENSP00000335323:G440D	ENSP00000335323:G440D	G	-	2	0	ACACA	32688900	0.998000	0.40836	0.999000	0.59377	0.829000	0.46940	6.070000	0.71220	2.779000	0.95612	0.655000	0.94253	GGT		0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Missense_Mutation	16	53	0	0	0	0	16	53				
BZRAP1	9256	broad.mit.edu	37	17	56382487	56382487	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:56382487C>T	ENST00000343736.4	-	30	5642	c.5479G>A	c.(5479-5481)Gag>Aag	p.E1827K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1767K|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1827K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1827	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCCTCCAGGAAGTTG	0.637																																						uc002ivx.3		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(5479-5481)GAG>AAG		peripheral benzodiazepine receptor-associated							45.0	51.0	49.0					17																	56382487		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382487C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5479G>A	17.37:g.56382487C>T	ENSP00000345824:p.Glu1827Lys					BZRAP1_uc002ivv.2_Missense_Mutation_p.E57K|BZRAP1_uc002ivw.2_Missense_Mutation_p.E59K|BZRAP1_uc010dcs.2_Missense_Mutation_p.E1767K|BZRAP1_uc010wnt.1_Missense_Mutation_p.E1818K	p.E1827K	NM_004758	NP_004749	O95153	RIMB1_HUMAN			30	6350	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1827			SH3 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.5479G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270805	0.59540	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.35236	1.32;1.32;1.32	5.66	5.66	0.87406	Src homology-3 domain (3);Variant SH3 (1);	0.166695	0.53938	D	0.000054	T	0.51890	0.1701	L	0.36672	1.1	0.39062	D	0.960547	D;D;D;D	0.76494	0.996;0.998;0.999;0.999	D;D;D;D	0.87578	0.952;0.997;0.997;0.998	T	0.47328	-0.9126	10	0.39692	T	0.17	.	18.382	0.90454	0.0:1.0:0.0:0.0	.	1818;1767;1827;1767	B7ZVZ7;O95153-2;O95153;A7E2C5	.;.;RIMB1_HUMAN;.	K	1827;1827;1767	ENSP00000347929:E1827K;ENSP00000345824:E1827K;ENSP00000268893:E1767K	ENSP00000268893:E1767K	E	-	1	0	BZRAP1	53737486	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.555000	0.36277	2.691000	0.91804	0.449000	0.29647	GAG		0.637	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		8	38	0	0	0	0	8	38				
CBX2	84733	broad.mit.edu	37	17	77758352	77758352	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:77758352C>T	ENST00000310942.4	+	5	1214	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	370					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTGGGTCTCCTTGCCCGCC	0.697																																						uc002jxc.2		NA																	0					0						c.(1108-1110)CTC>CTT		chromobox homolog 2 isoform 1							19.0	24.0	22.0					17																	77758352		2191	4262	6453	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758352C>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1110C>T	17.37:g.77758352C>T							p.L370L	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1152	+			370					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.1110C>T	CCDS32757.1																																																																																				0.697	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		4	27	0	0	0	0	4	27				
THOC1	9984	broad.mit.edu	37	18	214778	214778	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:214778C>A	ENST00000261600.6	-	21	1829	c.1822G>T	c.(1822-1824)Gac>Tac	p.D608Y		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	608	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATCTTCATGTCTTCACTGTCA	0.448																																						uc002kkj.3		NA																	0				ovary(1)	1						c.(1822-1824)GAC>TAC		THO complex 1							182.0	179.0	180.0					18																	214778		1967	4169	6136	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:214778C>A	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1822G>T	18.37:g.214778C>A	ENSP00000261600:p.Asp608Tyr					THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.D232Y	p.D608Y	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			21	1862	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	608			Death.		B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.1822G>T	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815680	0.70912	.	.	ENSG00000079134	ENST00000261600	D	0.94828	-3.53	6.17	5.31	0.75309	Death (3);DEATH-like (2);	0.046228	0.85682	D	0.000000	D	0.96510	0.8861	M	0.76170	2.325	0.58432	D	0.999999	D	0.58620	0.983	P	0.60789	0.879	D	0.96589	0.9436	10	0.56958	D	0.05	-22.2437	15.886	0.79247	0.0:0.9356:0.0:0.0644	.	608	Q96FV9	THOC1_HUMAN	Y	608	ENSP00000261600:D608Y	ENSP00000261600:D608Y	D	-	1	0	THOC1	204778	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	5.589000	0.67523	1.640000	0.50565	-0.126000	0.14955	GAC		0.448	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		14	62	1	0	1.36e-06	1.45e-06	14	62				
LPIN2	9663	broad.mit.edu	37	18	2931287	2931287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:2931287C>T	ENST00000261596.4	-	9	1661	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	475					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGAGGCCCCCGCAAAGGGAG	0.522																																						uc002klo.2		NA																	0				ovary(1)|skin(1)	2						c.(1423-1425)GGG>AGG		lipin 2							59.0	55.0	57.0					18																	2931287		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2931287C>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1423G>A	18.37:g.2931287C>T	ENSP00000261596:p.Gly475Arg						p.G475R	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	9	1662	-			475					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1423G>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119540	0.94385	.	.	ENSG00000101577	ENST00000261596	D	0.84730	-1.89	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94577	0.7776	10	0.72032	D	0.01	-27.2459	19.9444	0.97176	0.0:1.0:0.0:0.0	.	475	Q92539	LPIN2_HUMAN	R	475	ENSP00000261596:G475R	ENSP00000261596:G475R	G	-	1	0	LPIN2	2921287	1.000000	0.71417	0.861000	0.33841	0.890000	0.51754	7.365000	0.79537	2.706000	0.92434	0.650000	0.86243	GGG		0.522	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		7	24	0	0	0	0	7	24				
CXXC1	30827	broad.mit.edu	37	18	47810778	47810778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:47810778G>A	ENST00000285106.6	-	9	1889	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.S396L|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.S392L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	392					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACAGTCATCTGAGCAATACTT	0.602																																						uc002leq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1174-1176)TCA>TTA		CXXC finger 1 (PHD domain) isoform 2							80.0	84.0	83.0					18																	47810778		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810778G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1175C>T	18.37:g.47810778G>A	ENSP00000285106:p.Ser392Leu					MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.S249L|CXXC1_uc002ler.3_Missense_Mutation_p.S396L|CXXC1_uc010doy.2_Missense_Mutation_p.S392L|CXXC1_uc002les.2_Missense_Mutation_p.S392L	p.S392L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			9	1908	-			392					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1175C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323817	0.81580	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.50813	0.77;0.73	4.14	4.14	0.48551	.	0.000000	0.85682	U	0.000000	T	0.66771	0.2823	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.994;0.999;0.997;0.991	T	0.71856	-0.4466	10	0.87932	D	0	-11.3504	14.2571	0.66060	0.0:0.0:1.0:0.0	.	392;396;392;259	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	L	392;396	ENSP00000285106:S392L;ENSP00000390475:S396L	ENSP00000285106:S392L	S	-	2	0	CXXC1	46064776	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.075000	0.76798	2.016000	0.59253	0.297000	0.19635	TCA		0.602	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		14	65	0	0	0	0	14	65				
WDR7	23335	broad.mit.edu	37	18	54547249	54547249	+	Missense_Mutation	SNP	A	A	G	rs375430949		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:54547249A>G	ENST00000254442.3	+	21	3590	c.3379A>G	c.(3379-3381)Att>Gtt	p.I1127V	WDR7_ENST00000357574.3_Missense_Mutation_p.I1094V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1127					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCTACCGCTATTGTTTTACT	0.398													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19059	0.0		0.0	False		,,,				2504	0.0					uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(3379-3381)ATT>GTT		rabconnectin-3 beta isoform 1		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	90.0	83.0	85.0		3379,3280	5.4	1.0	18		85	0,8600		0,0,4300	no	missense,missense	WDR7	NM_015285.2,NM_052834.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1127/1491,1094/1458	54547249	1,13005	2203	4300	6503	SO:0001583	missense	23335							g.chr18:54547249A>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3379A>G	18.37:g.54547249A>G	ENSP00000254442:p.Ile1127Val					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.I1094V	p.I1127V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3590	+			1127					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3379A>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.355085	0.24512	2.27E-4	0.0	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68025	-0.3;1.44	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	N	0.17564	0.495	0.54753	D	0.999985	P;P	0.38863	0.65;0.518	P;P	0.51079	0.658;0.456	T	0.55768	-0.8089	10	0.09084	T	0.74	.	15.3242	0.74147	1.0:0.0:0.0:0.0	.	1094;1127	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1127;1094;452;1094	ENSP00000254442:I1127V;ENSP00000350187:I1094V	ENSP00000254442:I1127V	I	+	1	0	WDR7	52698247	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.507000	0.90522	2.165000	0.68154	0.533000	0.62120	ATT		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			13	46	0	0	0	0	13	46				
FUT5	2527	broad.mit.edu	37	19	5866613	5866613	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:5866613C>T	ENST00000588525.1	-	2	1211	c.1124G>A	c.(1123-1125)tGa>tAa	p.*375*	FUT5_ENST00000252675.5_Silent_p.*375*	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	0					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCGGCCTCTCAGGTGAACCA	0.632																																						uc002mdo.3		NA																	0					0						c.(1123-1125)TGA>TAA		fucosyltransferase 5							36.0	43.0	41.0					19																	5866613		2201	4296	6497	SO:0001819	synonymous_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5866613C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.1124G>A	19.37:g.5866613C>T						FUT5_uc010duo.2_Silent_p.*375*	p.*375*	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	1212	-			375					A8K4X2	Silent	SNP	ENST00000588525.1	37	c.1124G>A	CCDS12154.1																																																																																				0.632	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		17	85	0	0	0	0	17	85				
ZNF557	79230	broad.mit.edu	37	19	7076392	7076392	+	Splice_Site	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:7076392G>A	ENST00000439035.2	+	5	340	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	ZNF557_ENST00000252840.6_Splice_Site_p.G41S|ZNF557_ENST00000414706.1_Splice_Site_p.G41S			Q8N988	ZN557_HUMAN	zinc finger protein 557	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AATGCTTTAGGGCTTGGTGAC	0.582																																						uc002mgb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(100-102)GGC>AGC		zinc finger protein 557 isoform b							161.0	152.0	155.0					19																	7076392		2203	4300	6503	SO:0001630	splice_region_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7076392G>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.100-1G>A	19.37:g.7076392G>A						ZNF557_uc002mga.2_Missense_Mutation_p.G41S|ZNF557_uc002mgc.2_Missense_Mutation_p.G41S	p.G34S	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	5	585	+			34					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.100G>A	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	.	13.21	2.170445	0.38315	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.00873	5.59;5.59;5.59	1.59	-1.06	0.10002	Krueppel-associated box (1);	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	B;B	0.26445	0.092;0.149	B;B	0.17098	0.007;0.017	T	0.46345	-0.9198	8	.	.	.	.	8.7923	0.34859	0.0:0.4377:0.5623:0.0	.	34;41	Q8N988;Q8N988-2	ZN557_HUMAN;.	S	41;41;34	ENSP00000252840:G41S;ENSP00000404065:G41S;ENSP00000398965:G34S	.	G	+	1	0	ZNF557	7027392	0.796000	0.28864	0.004000	0.12327	0.029000	0.11900	0.731000	0.26058	-0.166000	0.10890	0.313000	0.20887	GGC		0.582	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341	Missense_Mutation	13	64	0	0	0	0	13	64				
LPHN1	22859	broad.mit.edu	37	19	14288437	14288437	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14288437C>T	ENST00000340736.6	-	3	487	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	LPHN1_ENST00000361434.3_Missense_Mutation_p.G64R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	64	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCGTGCGCCCGTAGTTGGCA	0.607																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(190-192)GGG>AGG		latrophilin 1 isoform 1 precursor							143.0	112.0	122.0					19																	14288437		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14288437C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.190G>A	19.37:g.14288437C>T	ENSP00000340688:p.Gly64Arg					LPHN1_uc010xno.1_Missense_Mutation_p.G64R	p.G64R	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			3	486	-			64			SUEL-type lectin.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.190G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719500	0.89205	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.55760	0.5;0.5	5.01	3.96	0.45880	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	H	0.98005	4.125	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86892	0.2049	10	0.87932	D	0	.	12.3998	0.55405	0.1699:0.8301:0.0:0.0	.	64;64	O94910-2;O94910	.;LPHN1_HUMAN	R	64	ENSP00000340688:G64R;ENSP00000355328:G64R	ENSP00000340688:G64R	G	-	1	0	LPHN1	14149437	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.607000	0.82883	1.076000	0.40961	0.591000	0.81541	GGG		0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		22	83	0	0	0	0	22	83				
ZNF333	84449	broad.mit.edu	37	19	14829870	14829870	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14829870C>T	ENST00000292530.6	+	12	1822	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	ZNF333_ENST00000536363.1_Silent_p.L468L|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	577					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CCTCATCCCTCAGGAAACATG	0.522																																					NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1729-1731)CTC>CTT		zinc finger protein 333							91.0	72.0	79.0					19																	14829870		2203	4300	6503	SO:0001819	synonymous_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829870C>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1731C>T	19.37:g.14829870C>T						ZNF333_uc002mzk.3_Silent_p.L468L	p.L577L	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			12	1865	+			577			C2H2-type 8.		Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	37	c.1731C>T	CCDS12316.1																																																																																				0.522	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		8	35	0	0	0	0	8	35				
ZNF91	7644	broad.mit.edu	37	19	23545292	23545292	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:23545292G>A	ENST00000300619.7	-	4	694	c.489C>T	c.(487-489)ttC>ttT	p.F163F	ZNF91_ENST00000397082.2_Silent_p.F131F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	163					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAATTTATAGAAGACTTTCA	0.323																																						uc002nre.2		NA																	0					0						c.(487-489)TTC>TTT		zinc finger protein 91							56.0	58.0	57.0					19																	23545292		2071	4253	6324	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545292G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.489C>T	19.37:g.23545292G>A						ZNF91_uc010xrj.1_Silent_p.F131F	p.F163F	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	602	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	163			C2H2-type 1; degenerate.		A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.489C>T	CCDS42541.1																																																																																				0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		15	38	0	0	0	0	15	38				
ZNF527	84503	broad.mit.edu	37	19	37879380	37879380	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:37879380G>A	ENST00000436120.2	+	5	536	c.429G>A	c.(427-429)gcG>gcA	p.A143A	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAAATGCGGAGAGGCATT	0.428																																						uc010efk.1		NA																	0				ovary(2)	2						c.(427-429)GCG>GCA		zinc finger protein 527							89.0	84.0	85.0					19																	37879380		1855	4091	5946	SO:0001819	synonymous_variant	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879380G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.429G>A	19.37:g.37879380G>A						ZNF527_uc002ogf.3_Silent_p.A111A|ZNF527_uc010xtq.1_RNA	p.A143A	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	540	+			143					B4DVL5	Silent	SNP	ENST00000436120.2	37	c.429G>A	CCDS42559.1																																																																																				0.428	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		18	40	0	0	0	0	18	40				
ZFP36	7538	broad.mit.edu	37	19	39898933	39898933	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:39898933C>G	ENST00000248673.3	+	2	633	c.575C>G	c.(574-576)tCt>tGt	p.S192C	ZFP36_ENST00000597629.1_Missense_Mutation_p.S198C|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	192					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTGCCCTCTGGCCGCCGG	0.692																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1		NA																	0				pancreas(1)	1						c.(574-576)TCT>TGT		zinc finger protein 36, C3H type, homolog							61.0	74.0	70.0					19																	39898933		2202	4294	6496	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898933C>G	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.575C>G	19.37:g.39898933C>G	ENSP00000248673:p.Ser192Cys					ZFP36_uc010egn.1_Missense_Mutation_p.L65V	p.S192C	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	633	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		192					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.575C>G		.	.	.	.	.	.	.	.	.	.	C	16.94	3.261818	0.59431	.	.	ENSG00000128016	ENST00000248673	T	0.23348	1.91	4.35	2.2	0.27929	.	0.158346	0.43110	D	0.000608	T	0.31389	0.0795	L	0.50333	1.59	0.36233	D	0.852777	D	0.63046	0.992	P	0.54499	0.754	T	0.33085	-0.9882	10	0.87932	D	0	-3.4331	6.7023	0.23232	0.0:0.781:0.0:0.219	.	192	P26651	TTP_HUMAN	C	192	ENSP00000248673:S192C	ENSP00000248673:S192C	S	+	2	0	ZFP36	44590773	0.710000	0.27896	0.045000	0.18777	0.694000	0.40290	2.199000	0.42715	0.487000	0.27698	0.442000	0.29010	TCT		0.692	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				33	103	0	0	0	0	33	103				
ADCK4	79934	broad.mit.edu	37	19	41209472	41209472	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:41209472A>C	ENST00000324464.3	-	9	1074	c.773T>G	c.(772-774)cTc>cGc	p.L258R	ADCK4_ENST00000243583.6_Missense_Mutation_p.L217R|ADCK4_ENST00000450541.1_Missense_Mutation_p.L217R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	258	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCTCATCTTGAGTACCGCCAG	0.622																																						uc002oor.2		NA																	0					0						c.(772-774)CTC>CGC		aarF domain containing kinase 4 isoform a							52.0	55.0	54.0					19																	41209472		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209472A>C	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.773T>G	19.37:g.41209472A>C	ENSP00000315118:p.Leu258Arg					ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.L217R	p.L258R	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		9	1075	-			258			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.773T>G	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299400	0.60195	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.58060	0.36;0.36;0.36	5.03	5.03	0.67393	ABC-1 (1);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.80065	0.4555	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.86109	0.1561	10	0.87932	D	0	-18.3106	13.7561	0.62937	1.0:0.0:0.0:0.0	.	258;217	Q96D53;Q96D53-2	ADCK4_HUMAN;.	R	258;217;217	ENSP00000315118:L258R;ENSP00000412839:L217R;ENSP00000243583:L217R	ENSP00000243583:L217R	L	-	2	0	ADCK4	45901312	1.000000	0.71417	0.772000	0.31596	0.122000	0.20287	9.001000	0.93568	1.889000	0.54706	0.533000	0.62120	CTC		0.622	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		9	24	0	0	0	0	9	24				
TMEM145	284339	broad.mit.edu	37	19	42822026	42822026	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:42822026A>C	ENST00000301204.3	+	12	1107	c.1066A>C	c.(1066-1068)Acc>Ccc	p.T356P	TMEM145_ENST00000598766.1_Missense_Mutation_p.T380P	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	356					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGCTGCCTATACCCTCTGGTG	0.587																																						uc002otk.1		NA																	0					0						c.(1066-1068)ACC>CCC		transmembrane protein 145							130.0	108.0	115.0					19																	42822026		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42822026A>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1066A>C	19.37:g.42822026A>C	ENSP00000301204:p.Thr356Pro						p.T356P	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			12	1118	+		Prostate(69;0.00682)	356			Helical; (Potential).			Missense_Mutation	SNP	ENST00000301204.3	37	c.1066A>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096010	0.76870	.	.	ENSG00000167619	ENST00000301204	T	0.48522	0.81	4.55	4.55	0.56014	Rhodopsin-like GPCR transmembrane domain (1);	0.166545	0.37483	N	0.002078	T	0.65616	0.2708	M	0.73598	2.24	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.65878	-0.6061	10	0.37606	T	0.19	-33.8699	12.1572	0.54083	1.0:0.0:0.0:0.0	.	356	Q8NBT3	TM145_HUMAN	P	356	ENSP00000301204:T356P	ENSP00000301204:T356P	T	+	1	0	TMEM145	47513866	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.486000	0.81215	1.832000	0.53329	0.482000	0.46254	ACC		0.587	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		7	44	0	0	0	0	7	44				
NLRP13	126204	broad.mit.edu	37	19	56436023	56436023	+	Splice_Site	SNP	C	C	T	rs561628596		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:56436023C>T	ENST00000342929.3	-	3	389	c.390G>A	c.(388-390)ggG>ggA	p.G130G	NLRP13_ENST00000588751.1_Splice_Site_p.G130G	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	130							ATP binding (GO:0005524)	p.G130G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTGCATATTCCCTGAAATAA	0.418																																						uc010ygg.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(388-390)GGG>GGA		NACHT, leucine rich repeat and PYD containing							208.0	163.0	179.0					19																	56436023		2203	4300	6503	SO:0001630	splice_region_variant	126204						ATP binding	g.chr19:56436023C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.389-1G>A	19.37:g.56436023C>T							p.G130G	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	3	415	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	130					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.390G>A	CCDS33119.1																																																																																				0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	Silent	10	41	0	0	0	0	10	41				
ZNF549	256051	broad.mit.edu	37	19	58046527	58046527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:58046527G>A	ENST00000376233.3	+	3	269	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ZNF549_ENST00000602149.1_Missense_Mutation_p.E30K|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E17K	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTTTGAGGATATTGC	0.502																																						uc002qpb.1		NA																	0				ovary(1)	1						c.(88-90)GAG>AAG		zinc finger protein 549							152.0	122.0	132.0					19																	58046527		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58046527G>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.88G>A	19.37:g.58046527G>A	ENSP00000365407:p.Glu30Lys					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Missense_Mutation_p.E30K|ZNF549_uc002qpa.1_Missense_Mutation_p.E17K	p.E30K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	337	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	30			KRAB.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.88G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860537	0.32884	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.01685	4.69;4.69	2.58	-0.128	0.13506	Krueppel-associated box (4);	.	.	.	.	T	0.03011	0.0089	L	0.39633	1.23	0.19575	N	0.999967	P;B	0.49253	0.921;0.072	P;B	0.51701	0.677;0.076	T	0.50550	-0.8815	9	0.24483	T	0.36	.	9.4764	0.38873	0.0:0.4104:0.5895:0.0	.	30;17	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	17;30	ENSP00000240719:E17K;ENSP00000365407:E30K	ENSP00000240719:E17K	E	+	1	0	ZNF549	62738339	0.996000	0.38824	0.055000	0.19348	0.998000	0.95712	0.675000	0.25232	0.370000	0.24538	0.655000	0.94253	GAG		0.502	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		10	45	0	0	0	0	10	45				
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P531P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562																																						uc002qxe.2		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(5)|central_nervous_system(1)	6						c.(1591-1593)CCG>CCA		myelin transcription factor 1-like							192.0	200.0	197.0					2																	1921002		2038	4190	6228	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1921002C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1593G>A	2.37:g.1921002C>T						MYT1L_uc002qxd.2_Silent_p.P529P|MYT1L_uc010ewl.1_RNA	p.P531P	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	11	2420	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	531			C2HC-type 2.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1593G>A																																																																																					0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	187	0	0	0	0	4	187				
WDR35	57539	broad.mit.edu	37	2	20145565	20145565	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20145565G>A	ENST00000345530.3	-	17	1975	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	WDR35_ENST00000281405.4_Silent_p.F609F|WDR35_ENST00000416055.2_Silent_p.F185F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	620					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTTTCTGAAAACATACA	0.343																																						uc002rdi.2		NA																	0				ovary(1)	1						c.(1858-1860)TTC>TTT		WD repeat domain 35 isoform 1							189.0	185.0	186.0					2																	20145565		2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20145565G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1860C>T	2.37:g.20145565G>A						WDR35_uc002rdj.2_Silent_p.F609F|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.F185F|WDR35_uc002rdk.3_Silent_p.F185F	p.F620F	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			17	1968	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		620					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.1860C>T	CCDS33152.1																																																																																				0.343	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		41	142	0	0	0	0	41	142				
MATN3	4148	broad.mit.edu	37	2	20192895	20192895	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20192895C>G	ENST00000407540.3	-	8	1500	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.E438Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	480					extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCATATTCATTTATTTTC	0.328																																						uc002rdl.2		NA																	0					0						c.(1438-1440)GAA>CAA		matrilin 3 precursor							107.0	104.0	105.0					2																	20192895		1838	4087	5925	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20192895C>G	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1438G>C	2.37:g.20192895C>G	ENSP00000383894:p.Glu480Gln						p.E480Q	NM_002381	NP_002372	O15232	MATN3_HUMAN			8	1501	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		480			By similarity.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.1438G>C	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379542	0.61845	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.65364	-0.15;-0.15	5.39	4.5	0.54988	Matrilin, coiled-coil trimerisation domain (1);	0.293917	0.31450	N	0.007626	T	0.56863	0.2014	N	0.17082	0.46	0.29631	N	0.845422	P	0.52170	0.951	P	0.55260	0.772	T	0.55341	-0.8156	10	0.33940	T	0.23	-18.2039	11.6032	0.51015	0.1773:0.8227:0.0:0.0	.	480	O15232	MATN3_HUMAN	Q	480;438	ENSP00000383894:E480Q;ENSP00000398753:E438Q	ENSP00000383894:E480Q	E	-	1	0	MATN3	20056376	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	1.049000	0.30392	1.237000	0.43756	0.655000	0.94253	GAA		0.328	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		6	44	0	0	0	0	6	44				
SPTBN1	6711	broad.mit.edu	37	2	54856219	54856219	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:54856219G>C	ENST00000356805.4	+	14	2229	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E637Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	650					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGGCAGAAGAGGAAGGCTG	0.597																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1948-1950)GAG>CAG		spectrin, beta, non-erythrocytic 1 isoform 1							60.0	62.0	61.0					2																	54856219		2203	4299	6502	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856219G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1948G>C	2.37:g.54856219G>C	ENSP00000349259:p.Glu650Gln					SPTBN1_uc002rxv.1_Missense_Mutation_p.E650Q|SPTBN1_uc002rxx.2_Missense_Mutation_p.E637Q	p.E650Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2197	+			650			Spectrin 4.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1948G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607981	0.66558	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.51325	0.71;0.71;0.71	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.91354	3.2	0.49582	D	0.999806	P;D	0.58970	0.856;0.984	P;P	0.61477	0.597;0.889	T	0.73920	-0.3830	10	0.27082	T	0.32	.	19.6322	0.95713	0.0:0.0:1.0:0.0	.	637;650	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	650;650;637	ENSP00000349259:E650Q;ENSP00000374630:E650Q;ENSP00000334156:E637Q	ENSP00000334156:E637Q	E	+	1	0	SPTBN1	54709723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.572000	0.82409	2.652000	0.90054	0.655000	0.94253	GAG		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			18	91	0	0	0	0	18	91				
EXOC6B	23233	broad.mit.edu	37	2	72945272	72945272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:72945272C>T	ENST00000272427.6	-	6	759	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R210H	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	210					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGAATGTTTGCGGATGCTCTC	0.423																																						uc010fep.2		NA																	0				central_nervous_system(2)	2						c.(628-630)CGC>CAC		SEC15-like 2							133.0	130.0	131.0					2																	72945272		1883	4111	5994	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72945272C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.629G>A	2.37:g.72945272C>T	ENSP00000272427:p.Arg210His					EXOC6B_uc002sij.2_Missense_Mutation_p.R210H	p.R210H	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			6	767	-			210					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.629G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300842	0.95601	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.32753	1.44;1.44	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.976;0.999	T	0.69146	-0.5222	10	0.87932	D	0	.	18.2035	0.89847	0.0:1.0:0.0:0.0	.	210;210	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	H	210	ENSP00000272427:R210H;ENSP00000386698:R210H	ENSP00000272427:R210H	R	-	2	0	EXOC6B	72798780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.632000	0.89209	0.655000	0.94253	CGC		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		4	66	0	0	0	0	4	66				
POTEF	728378	broad.mit.edu	37	2	130832651	130832651	+	Silent	SNP	G	G	A	rs375441303		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:130832651G>A	ENST00000409914.2	-	17	2793	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P	POTEF_ENST00000357462.5_Silent_p.P798P	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	798	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGTGCTCCTCGGGAGCCACAC	0.577													.|||	1	0.000199681	0.0	0.0014	5008	,	,		20260	0.0		0.0	False		,,,				2504	0.0					uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(2392-2394)CCC>CCT		prostate, ovary, testis expressed protein on		G		2,4404		0,2,2201	90.0	98.0	95.0		2394		0.2	2		95	1,8599		0,1,4299	no	coding-synonymous	POTEF	NM_001099771.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		798/1076	130832651	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832651G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2394C>T	2.37:g.130832651G>A							p.P798P	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			17	2794	-			798			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2394C>T	CCDS46409.1																																																																																				0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		4	136	0	0	0	0	4	136				
MAP3K19	80122	broad.mit.edu	37	2	135738407	135738407	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:135738407G>A	ENST00000375845.3	-	9	3934	c.3904C>T	c.(3904-3906)Cgc>Tgc	p.R1302C	MAP3K19_ENST00000315513.3_Missense_Mutation_p.R163C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R484C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1189C|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R434C|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R436C	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AGGCACATGCGCACAAAGTCT	0.493																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(3904-3906)CGC>TGC		Yeast Sps1/Ste20-related kinase 4 isoform 1							42.0	36.0	38.0					2																	135738407		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738407G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3904C>T	2.37:g.135738407G>A	ENSP00000365005:p.Arg1302Cys					YSK4_uc002tuf.1_Missense_Mutation_p.R484C|YSK4_uc010fnc.1_Missense_Mutation_p.R436C|YSK4_uc010fnd.1_Missense_Mutation_p.R1189C|YSK4_uc010zbg.1_Missense_Mutation_p.R434C|YSK4_uc002tuh.3_Missense_Mutation_p.R1030C|YSK4_uc002tui.3_3'UTR	p.R1302C	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3935	-			1302			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3904C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837583	0.50951	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000367	T	0.77658	0.4163	L	0.54965	1.715	0.38668	D	0.95223	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	P;D;D;D;D	0.78314	0.905;0.977;0.922;0.922;0.991	T	0.79933	-0.1594	10	0.62326	D	0.03	.	13.8592	0.63550	0.0:0.0:0.8475:0.1525	.	434;1189;436;484;1302	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	C	1302;1189;484;436;434;692;163	ENSP00000365005:R1302C;ENSP00000351140:R1189C;ENSP00000365004:R484C;ENSP00000376650:R436C;ENSP00000376649:R434C;ENSP00000392827:R692C;ENSP00000321160:R163C	ENSP00000321160:R163C	R	-	1	0	YSK4	135454877	0.988000	0.35896	0.965000	0.40720	0.861000	0.49209	1.734000	0.38166	2.706000	0.92434	0.591000	0.81541	CGC		0.493	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		11	19	0	0	0	0	11	19				
IFIH1	64135	broad.mit.edu	37	2	163133418	163133418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:163133418C>A	ENST00000263642.2	-	11	2478	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	695					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTTCATATTCTGGGTTTTCA	0.328																																						uc002uce.2		NA																	0				ovary(1)	1						c.(2083-2085)GAA>TAA		interferon induced with helicase C domain 1							119.0	116.0	117.0					2																	163133418		2203	4300	6503	SO:0001587	stop_gained	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163133418C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2083G>T	2.37:g.163133418C>A	ENSP00000263642:p.Glu695*						p.E695*	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			11	2305	-			695					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Nonsense_Mutation	SNP	ENST00000263642.2	37	c.2083G>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	40	8.339153	0.98767	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	.	.	.	5.36	0.888	0.19206	.	0.494079	0.24686	N	0.036421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6325	5.5382	0.17023	0.0:0.4436:0.133:0.4234	.	.	.	.	X	695	.	ENSP00000263642:E695X	E	-	1	0	IFIH1	162841664	0.672000	0.27530	0.814000	0.32528	0.954000	0.61252	0.215000	0.17562	-0.137000	0.11455	-0.145000	0.13849	GAA		0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		24	68	1	0	3.6e-14	3.93e-14	24	68				
TTN	7273	broad.mit.edu	37	2	179444106	179444106	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179444106C>T	ENST00000591111.1	-	270	62952	c.62728G>A	c.(62728-62730)Gac>Aac	p.D20910N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19983N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13678N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13611N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13486N|TTN_ENST00000589042.1_Missense_Mutation_p.D22551N|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20910	Ig-like 112.				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)			CCCTTTAAGTCAAGATCAGGA	0.393																																						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.(59947-59949)GAC>AAC		titin isoform N2-A							38.0	37.0	37.0					2																	179444106		1841	4087	5928	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444106C>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.62728G>A	2.37:g.179444106C>T	ENSP00000465570:p.Asp20910Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13678N|TTN_uc010zfi.1_Missense_Mutation_p.D13611N|TTN_uc010zfj.1_Missense_Mutation_p.D13486N|uc002umv.1_3'UTR	p.D19983N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	60171	-			20910					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.59947G>A		.	.	.	.	.	.	.	.	.	.	C	14.34	2.506859	0.44558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;0.05;0.03;0.01	5.68	5.68	0.88126	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57344	0.2047	L	0.49126	1.545	0.80722	D	1	B;B;B;P	0.37636	0.026;0.026;0.026;0.603	B;B;B;B	0.28385	0.031;0.031;0.031;0.089	T	0.63391	-0.6648	9	0.87932	D	0	.	20.1326	0.98004	0.0:1.0:0.0:0.0	.	13486;13611;13678;20910	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19983;13486;13678;13611;13484	ENSP00000343764:D19983N;ENSP00000434586:D13486N;ENSP00000340554:D13678N;ENSP00000352154:D13611N	ENSP00000340554:D13678N	D	-	1	0	TTN	179152352	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.755000	0.62198	2.833000	0.97629	0.655000	0.94253	GAC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	19	0	0	0	0	3	19				
TTN	7273	broad.mit.edu	37	2	179501496	179501496	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179501496T>G	ENST00000591111.1	-	175	36259	c.36035A>C	c.(36034-36036)gAa>gCa	p.E12012A	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11085A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4780A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4713A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4588A|TTN_ENST00000589042.1_Missense_Mutation_p.E13653A			Q8WZ42	TITIN_HUMAN	titin	12012	Pro-rich.				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)			CCTTTCGGCTTCTATTGGTGA	0.448																																						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.(33253-33255)GAA>GCA		titin isoform N2-A							52.0	51.0	51.0					2																	179501496		1869	4103	5972	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501496T>G	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.36035A>C	2.37:g.179501496T>G	ENSP00000465570:p.Glu12012Ala					TTN_uc010zfh.1_Missense_Mutation_p.E4780A|TTN_uc010zfi.1_Missense_Mutation_p.E4713A|TTN_uc010zfj.1_Missense_Mutation_p.E4588A|TTN_uc010fre.1_Missense_Mutation_p.E946A	p.E11085A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33478	-			12012					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.33254A>C		.	.	.	.	.	.	.	.	.	.	T	16.17	3.046544	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766	T;T;T;T	0.67698	-0.28;-0.06;-0.08;-0.09	5.86	5.86	0.93980	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67468	0.2896	L	0.59436	1.845	0.50313	D	0.99986	P;P;P;P	0.46395	0.877;0.877;0.877;0.877	B;B;B;B	0.43194	0.411;0.411;0.411;0.411	T	0.72620	-0.4238	9	0.87932	D	0	.	16.2652	0.82574	0.0:0.0:0.0:1.0	.	4588;4713;4780;12012	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	11085;4588;4780;4713;4588;957	ENSP00000343764:E11085A;ENSP00000434586:E4588A;ENSP00000340554:E4780A;ENSP00000352154:E4713A	ENSP00000340554:E4780A	E	-	2	0	TTN	179209741	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	7.959000	0.87885	2.241000	0.73720	0.528000	0.53228	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	31	0	0	0	0	16	31				
TTN	7273	broad.mit.edu	37	2	179516230	179516230	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179516230T>G	ENST00000591111.1	-	162	35200	c.34976A>C	c.(34975-34977)aAg>aCg	p.K11659T	TTN_ENST00000342992.6_Missense_Mutation_p.K10732T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K13166T			Q8WZ42	TITIN_HUMAN	titin	11659	Glu-rich.|Pro-rich.				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.K10732T(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)			AGGCACCTTCTTTTCAGGAAC	0.473																																						uc010zfg.1		NA																	1	Substitution - Missense(1)		large_intestine(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.(32194-32196)AAG>ACG		titin isoform N2-A							65.0	63.0	63.0					2																	179516230		1836	4081	5917	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516230T>G	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.34976A>C	2.37:g.179516230T>G	ENSP00000465570:p.Lys11659Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.K10732T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		161	32419	-			11659					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.32195A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.33|16.33	3.092979|3.092979	0.56075|0.56075	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966	.|D;D	.|0.81579	.|-1.51;-1.51	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|P	.|0.42078	.|0.77	.|P	.|0.48598	.|0.583	D|D	0.86825|0.86825	0.2007|0.2007	5|9	.|0.87932	.|D	.|0	.|.	15.3938|15.3938	0.74774|0.74774	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|11659	.|Q8WZ42	.|TITIN_HUMAN	N|T	6|10732;5;5	.|ENSP00000343764:K10732T;ENSP00000408004:K5T	.|ENSP00000343764:K10732T	K|K	-|-	3|2	2|0	TTN|TTN	179224475|179224475	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.691000|2.691000	0.47010|0.47010	2.094000|2.094000	0.63399|0.63399	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	41	0	0	0	0	12	41				
BARD1	580	broad.mit.edu	37	2	215645669	215645669	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:215645669G>C	ENST00000260947.4	-	4	1063	c.929C>G	c.(928-930)tCt>tGt	p.S310C	BARD1_ENST00000449967.2_Missense_Mutation_p.S166C|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	310					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATTTCTTAGATGTAAGATA	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002veu.2		NA																	0				lung(2)	2						c.(928-930)TCT>TGT		BRCA1 associated RING domain 1							82.0	82.0	82.0					2																	215645669		2203	4298	6501	SO:0001583	missense	580	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645669G>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.929C>G	2.37:g.215645669G>C	ENSP00000260947:p.Ser310Cys					BARD1_uc010zjm.1_Missense_Mutation_p.S166C	p.S310C	NM_000465	NP_000456	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	1064	-		Renal(323;0.0243)	310					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.929C>G	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122471	0.56613	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.75154	-0.91;-0.22	5.62	4.74	0.60224	.	0.892392	0.09689	N	0.768666	T	0.79263	0.4416	L	0.56769	1.78	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.53185	0.72;0.635	T	0.67432	-0.5672	10	0.72032	D	0.01	-1.5913	10.5583	0.45131	0.1488:0.0:0.8512:0.0	.	166;310	E7EUI3;Q99728	.;BARD1_HUMAN	C	310;166	ENSP00000260947:S310C;ENSP00000406752:S166C	ENSP00000260947:S310C	S	-	2	0	BARD1	215353914	0.142000	0.22610	0.004000	0.12327	0.007000	0.05969	3.284000	0.51708	1.507000	0.48752	0.655000	0.94253	TCT		0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		23	36	0	0	0	0	23	36				
FAM134A	79137	broad.mit.edu	37	2	220046144	220046144	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:220046144G>A	ENST00000430297.2	+	7	974	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	280						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGAGACAGAGAGTGAAAG	0.532																																						uc002vjw.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(838-840)GAG>AAG		hypothetical protein LOC79137							59.0	61.0	60.0					2																	220046144		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046144G>A	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.838G>A	2.37:g.220046144G>A	ENSP00000395249:p.Glu280Lys					FAM134A_uc010fwc.2_Missense_Mutation_p.E73K|FAM134A_uc002vjx.2_Missense_Mutation_p.E73K	p.E280K	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	974	+		Renal(207;0.0915)	280					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.838G>A	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197071	0.79015	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T	0.46063	0.88;1.36	4.85	4.85	0.62838	.	0.049429	0.85682	D	0.000000	T	0.52629	0.1746	L	0.42581	1.335	0.58432	D	0.999998	D;D	0.63880	0.993;0.988	P;P	0.60789	0.879;0.76	T	0.39099	-0.9630	10	0.21014	T	0.42	-12.2372	18.1576	0.89699	0.0:0.0:1.0:0.0	.	73;280	E7EUL4;Q8NC44	.;F134A_HUMAN	K	73;280;73;73	ENSP00000403898:E73K;ENSP00000395249:E280K	ENSP00000395249:E280K	E	+	1	0	FAM134A	219754388	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	8.673000	0.91186	2.505000	0.84491	0.655000	0.94253	GAG		0.532	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		14	24	0	0	0	0	14	24				
COL6A3	1293	broad.mit.edu	37	2	238285728	238285728	+	Silent	SNP	C	C	T	rs115874872	byFrequency	TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:238285728C>T	ENST00000295550.4	-	7	3209	c.2757G>A	c.(2755-2757)gcG>gcA	p.A919A	COL6A3_ENST00000346358.4_Silent_p.A719A|COL6A3_ENST00000353578.4_Silent_p.A713A|COL6A3_ENST00000347401.3_Silent_p.A718A|COL6A3_ENST00000392003.2_Silent_p.A512A|COL6A3_ENST00000392004.3_Silent_p.A713A|COL6A3_ENST00000472056.1_Silent_p.A312A|COL6A3_ENST00000409809.1_Silent_p.A713A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	919	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATAGTCCAGCGCGTAGCCCA	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		22914	0.0		0.002	False		,,,				2504	0.0					uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(2755-2757)GCG>GCA		alpha 3 type VI collagen isoform 1 precursor		G	,,,,	0,4406		0,0,2203	83.0	71.0	75.0		2757,1536,2139,936,2139	-3.6	0.3	2	dbSNP_132	75	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	919/3178,512/1037,713/1238,312/2571,713/2972	238285728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285728C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2757G>A	2.37:g.238285728C>T						COL6A3_uc002vwo.2_Silent_p.A713A|COL6A3_uc010znj.1_Silent_p.A312A|COL6A3_uc002vwq.2_Silent_p.A713A|COL6A3_uc002vwr.2_Silent_p.A512A|COL6A3_uc010znk.1_Silent_p.A719A	p.A919A	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3042	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	919			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.2757G>A	CCDS33412.1																																																																																				0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		10	31	0	0	0	0	10	31				
ANO7	50636	broad.mit.edu	37	2	242135211	242135211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:242135211G>A	ENST00000274979.8	+	4	525	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	ANO7_ENST00000402530.3_Missense_Mutation_p.R140Q|ANO7_ENST00000402430.3_Missense_Mutation_p.R140Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	141					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGACCTGGCGGGAGACTTTT	0.607																																						uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(421-423)CGG>CAG		transmembrane protein 16G isoform NGEP long							114.0	102.0	106.0					2																	242135211		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135211G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.422G>A	2.37:g.242135211G>A	ENSP00000274979:p.Arg141Gln					ANO7_uc002waw.2_Missense_Mutation_p.R140Q	p.R141Q	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			4	525	+			141			Cytoplasmic (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.422G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359819	0.95854	.	.	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	T;T;T	0.68181	-0.31;-0.07;-0.31	2.75	2.75	0.32379	.	0.077329	0.48286	N	0.000189	T	0.80149	0.4570	M	0.81942	2.565	0.40711	D	0.98257	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83127	-0.0115	10	0.87932	D	0	.	11.139	0.48392	0.0:0.0:1.0:0.0	.	141;140	Q6IWH7;Q6IWH7-2	ANO7_HUMAN;.	Q	141;140;140	ENSP00000274979:R141Q;ENSP00000383985:R140Q;ENSP00000385418:R140Q	ENSP00000274979:R141Q	R	+	2	0	ANO7	241783884	0.985000	0.35326	0.717000	0.30585	0.799000	0.45148	3.923000	0.56469	1.486000	0.48398	0.453000	0.30009	CGG		0.607	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		14	32	0	0	0	0	14	32				
TGM3	7053	broad.mit.edu	37	20	2293573	2293573	+	Silent	SNP	C	C	T	rs377116478		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:2293573C>T	ENST00000381458.5	+	5	633	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	190					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCATCTGCCTCTCAATCTTGG	0.478																																						uc002wfx.3		NA																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(568-570)CTC>CTT		transglutaminase 3 precursor	L-Glutamine(DB00130)						192.0	178.0	183.0					20																	2293573		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2293573C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.570C>T	20.37:g.2293573C>T							p.L190L	NM_003245	NP_003236	Q08188	TGM3_HUMAN			5	667	+			190					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.570C>T	CCDS33435.1																																																																																				0.478	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		9	193	0	0	0	0	9	193				
JAG1	182	broad.mit.edu	37	20	10620404	10620404	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:10620404C>T	ENST00000254958.5	-	26	3914	c.3399G>A	c.(3397-3399)acG>acA	p.T1133T	JAG1_ENST00000423891.2_Silent_p.T974T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1133					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGATGGGGACCGTGTTGGCCC	0.483									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(3397-3399)ACG>ACA		jagged 1 precursor							139.0	135.0	136.0					20																	10620404		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620404C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3399G>A	20.37:g.10620404C>T							p.T1133T	NM_000214	NP_000205	P78504	JAG1_HUMAN			26	3915	-			1133			Cytoplasmic (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.3399G>A	CCDS13112.1																																																																																				0.483	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		29	50	0	0	0	0	29	50				
PCSK2	5126	broad.mit.edu	37	20	17462559	17462559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:17462559G>A	ENST00000262545.2	+	12	2076	c.1761G>A	c.(1759-1761)tgG>tgA	p.W587*	PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W568*|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W552*|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	587					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAAGGAGTGGACCCTGATGC	0.622																																						uc002wpm.2		NA																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1759-1761)TGG>TGA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						35.0	34.0	34.0					20																	17462559		2203	4300	6503	SO:0001587	stop_gained	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462559G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1761G>A	20.37:g.17462559G>A	ENSP00000262545:p.Trp587*					PCSK2_uc002wpl.2_Nonsense_Mutation_p.W568*|PCSK2_uc010zrm.1_Nonsense_Mutation_p.W552*|PCSK2_uc002wpn.2_Nonsense_Mutation_p.W241*	p.W587*	NM_002594	NP_002585	P16519	NEC2_HUMAN			12	2081	+			587					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Nonsense_Mutation	SNP	ENST00000262545.2	37	c.1761G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	41	8.917403	0.99002	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.188	18.6061	0.91266	0.0:0.0:1.0:0.0	.	.	.	.	X	568;587;552	.	ENSP00000262545:W587X	W	+	3	0	PCSK2	17410559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	TGG		0.622	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		4	32	0	0	0	0	4	32				
CEP250	11190	broad.mit.edu	37	20	34067178	34067178	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:34067178G>A	ENST00000397527.1	+	18	2937	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A	RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Silent_p.A739A|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	739	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.A739A(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAGAAAGCGGCTCTAGAGG	0.612																																						uc002xcm.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(4)|central_nervous_system(1)	5						c.(2215-2217)GCG>GCA		centrosomal protein 2							123.0	112.0	116.0					20																	34067178		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34067178G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2217G>A	20.37:g.34067178G>A						CEP250_uc010zve.1_Silent_p.A107A	p.A739A	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		19	2888	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		739			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.2217G>A	CCDS13255.1																																																																																				0.612	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	150	0	0	0	0	5	150				
SYS1	90196	broad.mit.edu	37	20	43995543	43995543	+	Nonsense_Mutation	SNP	C	C	T	rs374993970		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:43995543C>T	ENST00000243918.5	+	4	550	c.259C>T	c.(259-261)Cga>Tga	p.R87*	SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000414310.1_Nonsense_Mutation_p.R66*|SYS1_ENST00000372727.1_Nonsense_Mutation_p.R87*|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	87					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTTCATCCGGCGAGGAAAGCA	0.567																																						uc002xnv.2		NA																	0				skin(1)	1						c.(259-261)CGA>TGA		SYS1 Golgi-localized integral membrane protein		C	,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152.0	138.0	142.0		,259,259	5.2	1.0	20		142	0,8600		0,0,4300	no	intron,stop-gained,stop-gained	SYS1	NM_001099791.2,NM_001197129.1,NM_033542.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,87/157,87/157	43995543	1,13005	2203	4300	6503	SO:0001587	stop_gained	90196				protein transport	Golgi membrane|integral to membrane		g.chr20:43995543C>T	AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.259C>T	20.37:g.43995543C>T	ENSP00000243918:p.Arg87*					SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	p.R87*	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN			4	517	+		Myeloproliferative disorder(115;0.0122)	87					C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Nonsense_Mutation	SNP	ENST00000243918.5	37	c.259C>T	CCDS13351.1	.	.	.	.	.	.	.	.	.	.	C	37	6.506426	0.97620	2.27E-4	0.0	ENSG00000204070	ENST00000372727;ENST00000414310;ENST00000243918;ENST00000453003	.	.	.	6.17	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6444	9.9397	0.41572	0.1359:0.7943:0.0:0.0699	.	.	.	.	X	87;66;87;87	.	ENSP00000243918:R87X	R	+	1	2	SYS1	43428957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.327000	0.59247	2.941000	0.99782	0.655000	0.94253	CGA		0.567	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079453.2	NM_033542		65	92	0	0	0	0	65	92				
SLC12A5	57468	broad.mit.edu	37	20	44663637	44663637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:44663637G>A	ENST00000454036.2	+	2	221	c.172G>A	c.(172-174)Gag>Aag	p.E58K	SLC12A5_ENST00000372315.1_Missense_Mutation_p.E35K|SLC12A5_ENST00000608944.1_5'UTR|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E35K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	58					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCGACACAGAGAAGGGAAA	0.517																																						uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(172-174)GAG>AAG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						273.0	190.0	218.0					20																	44663637		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44663637G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.172G>A	20.37:g.44663637G>A	ENSP00000387694:p.Glu58Lys					SLC12A5_uc002xra.2_Missense_Mutation_p.E35K|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.E35K	p.E58K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			2	248	+		Myeloproliferative disorder(115;0.0122)	58			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.172G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882300	0.72294	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;T;T;T	0.84298	-1.83;2.32;2.32;2.32	4.88	4.88	0.63580	.	0.129712	0.52532	D	0.000063	D	0.82554	0.5062	M	0.63843	1.955	0.80722	D	1	B;B;B	0.33826	0.003;0.427;0.032	B;B;B	0.35182	0.066;0.197;0.097	T	0.78846	-0.2043	10	0.09590	T	0.72	.	17.1157	0.86688	0.0:0.0:1.0:0.0	.	58;35;35	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	K	58;35;35;35	ENSP00000387694:E58K;ENSP00000361389:E35K;ENSP00000446091:E35K;ENSP00000243964:E35K	ENSP00000243964:E35K	E	+	1	0	SLC12A5	44097044	0.991000	0.36638	0.995000	0.50966	0.972000	0.66771	5.221000	0.65272	2.679000	0.91253	0.655000	0.94253	GAG		0.517	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			13	74	0	0	0	0	13	74				
DNAJC5	80331	broad.mit.edu	37	20	62562255	62562255	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:62562255C>T	ENST00000360864.4	+	4	526	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	DNAJC5_ENST00000369911.2_Silent_p.L125L	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	125	Poly-Cys.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctgctgctgtctgtgctgctg	0.622																																						uc002yhf.2		NA																	0				pancreas(1)	1						c.(373-375)CTG>TTG		DnaJ (Hsp40) homolog, subfamily C, member 5							90.0	77.0	81.0					20																	62562255		2203	4299	6502	SO:0001819	synonymous_variant	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62562255C>T		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.373C>T	20.37:g.62562255C>T						DNAJC5_uc002yhg.1_Silent_p.L125L|DNAJC5_uc002yhh.2_RNA	p.L125L	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN			4	543	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		125			Poly-Cys.		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Silent	SNP	ENST00000360864.4	37	c.373C>T	CCDS13546.1																																																																																				0.622	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		5	68	0	0	0	0	5	68				
NCAM2	4685	broad.mit.edu	37	21	22881273	22881273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:22881273C>T	ENST00000400546.1	+	16	2428	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	NCAM2_ENST00000284894.7_Missense_Mutation_p.R585W	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	727					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTCTTTATTCGGCAATGTGG	0.468																																						uc002yld.1		NA																	0				ovary(4)	4						c.(2179-2181)CGG>TGG		neural cell adhesion molecule 2 precursor							118.0	111.0	113.0					21																	22881273		1982	4167	6149	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22881273C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2179C>T	21.37:g.22881273C>T	ENSP00000383392:p.Arg727Trp					NCAM2_uc011acb.1_Missense_Mutation_p.R585W	p.R727W	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	16	2428	+		Lung NSC(9;0.195)	727			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2179C>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118270	0.77323	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.61627	0.09;0.17	4.98	4.09	0.47781	.	0.110202	0.64402	D	0.000008	T	0.63522	0.2518	L	0.41236	1.265	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61722	0.893;0.849	T	0.66052	-0.6019	10	0.62326	D	0.03	-14.8437	12.1375	0.53979	0.3111:0.6889:0.0:0.0	.	585;727	B7Z5K2;O15394	.;NCAM2_HUMAN	W	727;585	ENSP00000383392:R727W;ENSP00000284894:R585W	ENSP00000284894:R585W	R	+	1	2	NCAM2	21803144	0.999000	0.42202	0.998000	0.56505	0.987000	0.75469	0.926000	0.28804	1.397000	0.46682	0.643000	0.83706	CGG		0.468	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		13	42	0	0	0	0	13	42				
DSCAM	1826	broad.mit.edu	37	21	41414523	41414523	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:41414523C>T	ENST00000400454.1	-	32	5938	c.5461G>A	c.(5461-5463)Gcc>Acc	p.A1821T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1821					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCATCTTGGCGTGTTCGTAG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5461-5463)GCC>ACC		Down syndrome cell adhesion molecule isoform							171.0	164.0	166.0					21																	41414523		2144	4258	6402	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414523C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5461G>A	21.37:g.41414523C>T	ENSP00000383303:p.Ala1821Thr					DSCAM_uc002yyr.1_RNA	p.A1821T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			32	5913	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1821			Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5461G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	c	28.7	4.939570	0.92526	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66280	-0.2;-0.04	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	L	0.32530	0.975	0.54753	D	0.999988	D	0.89917	1.0	D	0.77557	0.99	T	0.73681	-0.3906	10	0.54805	T	0.06	.	18.8769	0.92341	0.0:1.0:0.0:0.0	.	1821	O60469	DSCAM_HUMAN	T	1821;1573	ENSP00000383303:A1821T;ENSP00000385342:A1573T	ENSP00000383303:A1821T	A	-	1	0	DSCAM	40336393	1.000000	0.71417	0.997000	0.53966	0.659000	0.38960	7.726000	0.84824	2.458000	0.83093	0.655000	0.94253	GCC		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		13	50	0	0	0	0	13	50				
MX1	4599	broad.mit.edu	37	21	42817972	42817972	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:42817972G>C	ENST00000398600.2	+	15	2202	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	MX1_ENST00000398598.3_Missense_Mutation_p.E393Q|MX1_ENST00000455164.2_Missense_Mutation_p.E393Q|MX1_ENST00000288383.6_Missense_Mutation_p.E370Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	393	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGCAAGGAGAGGAAACTGT	0.398																																						uc002yzh.2		NA																	0				ovary(1)	1						c.(1177-1179)GAG>CAG		myxovirus resistance protein 1							105.0	97.0	99.0					21																	42817972		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42817972G>C		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1177G>C	21.37:g.42817972G>C	ENSP00000381601:p.Glu393Gln					MX1_uc002yzi.2_Missense_Mutation_p.E393Q|MX1_uc010goq.2_Missense_Mutation_p.E393Q	p.E393Q	NM_001144925	NP_001138397	P20591	MX1_HUMAN			15	2124	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	393					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1177G>C	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817250	0.50633	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	4.72	4.72	0.59763	Dynamin central domain (1);	0.049858	0.85682	D	0.000000	T	0.80433	0.4622	L	0.49571	1.57	0.54753	D	0.999987	P	0.35944	0.529	P	0.51833	0.681	T	0.81095	-0.1088	10	0.56958	D	0.05	-44.8466	16.0197	0.80472	0.0:0.0:1.0:0.0	.	393	P20591	MX1_HUMAN	Q	393;393;393;370	ENSP00000381601:E393Q;ENSP00000381599:E393Q;ENSP00000410523:E393Q;ENSP00000288383:E370Q	ENSP00000288383:E370Q	E	+	1	0	MX1	41739842	1.000000	0.71417	0.991000	0.47740	0.174000	0.22865	7.105000	0.77031	2.550000	0.86006	0.655000	0.94253	GAG		0.398	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			8	33	0	0	0	0	8	33				
COL6A1	1291	broad.mit.edu	37	21	47404200	47404200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:47404200G>A	ENST00000361866.3	+	3	359	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	82	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CGCTGTGACCGAAACCTGGTG	0.682																																						uc002zhu.1		NA																	0				ovary(1)	1						c.(244-246)CGA>CAA		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						47.0	33.0	38.0					21																	47404200		2195	4288	6483	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47404200G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.245G>A	21.37:g.47404200G>A	ENSP00000355180:p.Arg82Gln						p.R82Q	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	3	347	+	all_hematologic(128;0.24)		82			VWFA 1.|N-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.245G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692546	0.88735	.	.	ENSG00000142156	ENST00000361866;ENST00000538397;ENST00000546256	D	0.82803	-1.65	4.28	4.28	0.50868	von Willebrand factor, type A (3);	0.000000	0.64402	U	0.000001	D	0.87513	0.6196	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84157	0.0426	10	0.11794	T	0.64	-8.9264	16.7204	0.85409	0.0:0.0:1.0:0.0	.	82	P12109	CO6A1_HUMAN	Q	82	ENSP00000355180:R82Q	ENSP00000355180:R82Q	R	+	2	0	COL6A1	46228628	1.000000	0.71417	0.993000	0.49108	0.883000	0.51084	9.192000	0.94947	1.924000	0.55735	0.555000	0.69702	CGA		0.682	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		4	4	0	0	0	0	4	4				
OSBP2	23762	broad.mit.edu	37	22	31266528	31266528	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:31266528C>T	ENST00000332585.6	+	3	1070	c.966C>T	c.(964-966)ctC>ctT	p.L322L	OSBP2_ENST00000437268.2_Silent_p.L64L|OSBP2_ENST00000407373.1_Silent_p.L149L|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Silent_p.L322L|OSBP2_ENST00000403222.3_Silent_p.L157L|OSBP2_ENST00000446658.2_Silent_p.L322L	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	322					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCAATGACCTCATCGCCAAGC	0.587																																						uc003aiy.1		NA																	0				breast(1)|skin(1)	2						c.(964-966)CTC>CTT		oxysterol binding protein 2 isoform a							75.0	79.0	78.0					22																	31266528		2151	4255	6406	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31266528C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.966C>T	22.37:g.31266528C>T						OSBP2_uc011ala.1_Silent_p.L157L|OSBP2_uc010gwc.1_Silent_p.L149L|OSBP2_uc003aix.1_Silent_p.L322L|OSBP2_uc011alb.1_Silent_p.L322L|OSBP2_uc003aiz.1_Silent_p.L322L|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.1_Silent_p.L64L	p.L322L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			3	1070	+			322					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.966C>T	CCDS43002.1																																																																																				0.587	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		6	22	0	0	0	0	6	22				
MYH9	4627	broad.mit.edu	37	22	36702049	36702049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:36702049C>T	ENST00000216181.5	-	17	2316	c.2086G>A	c.(2086-2088)Ggt>Agt	p.G696S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	696	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCGAGAACACCGTTGCAGCGC	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2086-2088)GGT>AGT		myosin, heavy polypeptide 9, non-muscle							72.0	68.0	69.0					22																	36702049		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36702049C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2086G>A	22.37:g.36702049C>T	ENSP00000216181:p.Gly696Ser					MYH9_uc003aph.1_Missense_Mutation_p.G560S	p.G696S	NM_002473	NP_002464	P35579	MYH9_HUMAN			17	2317	-			696			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2086G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371046	0.95923	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.98666	-5.06	5.46	5.46	0.80206	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.98521	1.0623	10	0.87932	D	0	.	19.6713	0.95912	0.0:1.0:0.0:0.0	.	696	P35579	MYH9_HUMAN	S	560;696	ENSP00000216181:G696S	ENSP00000216181:G696S	G	-	1	0	MYH9	35031995	1.000000	0.71417	0.842000	0.33263	0.715000	0.41141	7.814000	0.86154	2.710000	0.92621	0.655000	0.94253	GGT		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		18	55	0	0	0	0	18	55				
IL2RB	3560	broad.mit.edu	37	22	37539602	37539602	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539602C>T	ENST00000216223.5	-	3	360	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	54					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGTGTCCTGCAGAGCCCCAT	0.562																																						uc003aqv.1		NA																	0					0						c.(160-162)CTG>CTA		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						88.0	75.0	80.0					22																	37539602		2203	4300	6503	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37539602C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.162G>A	22.37:g.37539602C>T							p.L54L	NM_000878	NP_000869	P14784	IL2RB_HUMAN			3	293	-			54			Extracellular (Potential).		B2R765	Silent	SNP	ENST00000216223.5	37	c.162G>A	CCDS13942.1																																																																																				0.562	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			15	41	0	0	0	0	15	41				
IL2RB	3560	broad.mit.edu	37	22	37539642	37539642	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539642C>G	ENST00000216223.5	-	3	320	c.122G>C	c.(121-123)aGa>aCa	p.R41T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	41					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GATGTTGGCTCTCGAGTTGTA	0.602																																						uc003aqv.1		NA																	0					0						c.(121-123)AGA>ACA		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						105.0	88.0	94.0					22																	37539642		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37539642C>G	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.122G>C	22.37:g.37539642C>G	ENSP00000216223:p.Arg41Thr						p.R41T	NM_000878	NP_000869	P14784	IL2RB_HUMAN			3	253	-			41			Extracellular (Potential).		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.122G>C	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060414	0.55432	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.19	-2.47	0.06442	Fibronectin, type III (1);	0.710068	0.14607	N	0.309274	D	0.96291	0.8790	L	0.43923	1.385	0.20074	N	0.999933	D	0.89917	1.0	D	0.68039	0.955	D	0.90922	0.4784	10	0.14252	T	0.57	-1.2132	13.0094	0.58724	0.0:0.8472:0.0:0.1528	.	41	P14784	IL2RB_HUMAN	T	41	ENSP00000216223:R41T;ENSP00000403731:R41T;ENSP00000402685:R41T;ENSP00000401020:R41T	ENSP00000216223:R41T	R	-	2	0	IL2RB	35869588	0.125000	0.22332	0.061000	0.19648	0.980000	0.70556	-0.500000	0.06405	-0.846000	0.04174	-0.291000	0.09656	AGA		0.602	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			14	56	0	0	0	0	14	56				
SUN2	25777	broad.mit.edu	37	22	39138356	39138356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:39138356C>A	ENST00000405510.1	-	10	1376	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	SUN2_ENST00000216064.4_Nonsense_Mutation_p.E340*|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.E340*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.E361*|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000411587.2_Nonsense_Mutation_p.E329*|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	340					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AGGGCAGCTTCACGGCGGCTC	0.642																																						uc003awh.1		NA																	0				large_intestine(1)|skin(1)	2						c.(1018-1020)GAA>TAA		unc-84 homolog B							45.0	45.0	45.0					22																	39138356		2203	4300	6503	SO:0001587	stop_gained	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39138356C>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1018G>T	22.37:g.39138356C>A	ENSP00000385740:p.Glu340*					SUN2_uc011anz.1_Nonsense_Mutation_p.E375*|SUN2_uc011aoa.1_Nonsense_Mutation_p.E329*|SUN2_uc003awi.1_Nonsense_Mutation_p.E340*|SUN2_uc010gxq.1_Nonsense_Mutation_p.E361*|SUN2_uc010gxr.1_Nonsense_Mutation_p.E340*|SUN2_uc010gxs.1_Nonsense_Mutation_p.E340*	p.E340*	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN			10	1302	-			340			Perinuclear space.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Nonsense_Mutation	SNP	ENST00000405510.1	37	c.1018G>T	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.665459	0.98422	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	.	.	.	5.24	4.21	0.49690	.	0.230463	0.33217	N	0.005151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-32.4071	13.9046	0.63826	0.0:0.9244:0.0:0.0756	.	.	.	.	X	340;340;361;340;329	.	ENSP00000216064:E340X	E	-	1	0	SUN2	37468302	0.977000	0.34250	0.938000	0.37757	0.758000	0.43043	2.455000	0.44988	2.451000	0.82905	0.555000	0.69702	GAA		0.642	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		5	36	1	0	0.000157383	0.00016491	5	36				
FAM19A5	25817	broad.mit.edu	37	22	49103655	49103655	+	Splice_Site	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:49103655C>T	ENST00000402357.1	+	3	522	c.389C>T	c.(388-390)aCg>aTg	p.T130M	FAM19A5_ENST00000406880.1_Splice_Site_p.T51M|FAM19A5_ENST00000358295.5_Splice_Site_p.T123M|FAM19A5_ENST00000473898.1_3'UTR	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	130						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AAGACCACCACGGTATGTGGC	0.657																																						uc003bim.3		NA																	0				large_intestine(1)	1						c.(388-390)ACG>ATG		family with sequence similarity 19 (chemokine							91.0	104.0	99.0					22																	49103655		2121	4218	6339	SO:0001630	splice_region_variant	25817					extracellular region|integral to membrane		g.chr22:49103655C>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.390+1C>T	22.37:g.49103655C>T						FAM19A5_uc003bio.3_Missense_Mutation_p.T123M	p.T130M	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	3	506	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	130					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.389C>T	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378074	0.61735	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295;ENST00000406880	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	T	0.75443	0.3850	L	0.57536	1.79	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	T	0.78663	-0.2116	8	0.87932	D	0	.	14.9931	0.71406	0.0:1.0:0.0:0.0	.	123;130	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	M	130;130;123;51	.	ENSP00000336812:T130M	T	+	2	0	FAM19A5	47489661	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	6.645000	0.74343	2.186000	0.69663	0.558000	0.71614	ACG		0.657	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381	Missense_Mutation	55	71	0	0	0	0	55	71				
SHANK3	85358	broad.mit.edu	37	22	51160628	51160628	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:51160628C>G	ENST00000414786.2	+	21	4552	c.4325C>G	c.(4324-4326)tCt>tGt	p.S1442C	SHANK3_ENST00000445220.2_Missense_Mutation_p.S1458C|SHANK3_ENST00000262795.3_Missense_Mutation_p.S1472C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1456					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.S1472C(1)|p.S565C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCTGGCCTCTGCCGCCGGG	0.711																																						uc003bne.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(4414-4416)TCT>TGT		SH3 and multiple ankyrin repeat domains 3							9.0	12.0	11.0					22																	51160628		1923	4055	5978	SO:0001583	missense	85358							g.chr22:51160628C>G	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4325C>G	22.37:g.51160628C>G	ENSP00000464552:p.Ser1442Cys					SHANK3_uc003bnf.1_Missense_Mutation_p.S919C|SHANK3_uc010hbg.1_Missense_Mutation_p.S654C	p.S1472C	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	4415	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1472					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.4415C>G		.	.	.	.	.	.	.	.	.	.	C	16.18	3.050035	0.55218	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.42131	0.98;1.0	5.01	5.01	0.66863	.	1.218520	0.05882	N	0.626714	T	0.57417	0.2052	L	0.40543	1.245	0.30275	N	0.791927	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.65573	0.936;0.867;0.936	T	0.48822	-0.9001	10	0.35671	T	0.21	.	13.8427	0.63449	0.0:1.0:0.0:0.0	.	1456;1457;1472	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	C	1472;1458	ENSP00000442518:S1472C;ENSP00000446078:S1458C	ENSP00000442518:S1472C	S	+	2	0	SHANK3	49507494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.038000	0.64177	2.336000	0.79503	0.563000	0.77884	TCT		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		4	21	0	0	0	0	4	21				
ZFYVE20	64145	broad.mit.edu	37	3	15115633	15115633	+	Missense_Mutation	SNP	C	C	G	rs375709820		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:15115633C>G	ENST00000253699.3	-	14	2624	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E671Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	671	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.|Poly-Glu.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACTGCTTCCTCCTCCTCGTCC	0.567																																						uc003bzm.1		NA																	0				skin(2)	2						c.(2011-2013)GAG>CAG		FYVE-finger-containing Rab5 effector protein							144.0	148.0	147.0					3																	15115633		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115633C>G	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.2011G>C	3.37:g.15115633C>G	ENSP00000253699:p.Glu671Gln					ZFYVE20_uc010hek.1_Missense_Mutation_p.E671Q	p.E671Q	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			14	2625	-			671			Poly-Glu.|Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.2011G>C	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	1.857	-0.463696	0.04476	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.55588	0.51;0.51	5.02	3.07	0.35406	.	0.232377	0.42420	D	0.000703	T	0.36991	0.0987	N	0.22421	0.69	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.27400	-1.0075	10	0.39692	T	0.17	-13.5264	11.8926	0.52638	0.0:0.7259:0.1968:0.0774	.	671	Q9H1K0	RBNS5_HUMAN	Q	671	ENSP00000253699:E671Q;ENSP00000422551:E671Q	ENSP00000253699:E671Q	E	-	1	0	ZFYVE20	15090637	0.002000	0.14202	0.002000	0.10522	0.009000	0.06853	0.894000	0.28350	1.100000	0.41517	0.591000	0.81541	GAG		0.567	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	138	0	0	0	0	4	138				
RAB5A	5868	broad.mit.edu	37	3	20017653	20017653	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:20017653G>A	ENST00000273047.4	+	4	966	c.430G>A	c.(430-432)Gat>Aat	p.D144N	RAB5A_ENST00000422242.1_Missense_Mutation_p.D130N	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	144					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						AAGAGCAGTAGATTTCCAGGT	0.343																																						uc003cbn.2		NA																	0					0						c.(430-432)GAT>AAT		RAB5A, member RAS oncogene family							54.0	52.0	53.0					3																	20017653		2203	4300	6503	SO:0001583	missense	5868				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr3:20017653G>A		CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.430G>A	3.37:g.20017653G>A	ENSP00000273047:p.Asp144Asn					RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Missense_Mutation_p.D130N	p.D144N	NM_004162	NP_004153	P20339	RAB5A_HUMAN			4	965	+			144					B4DJA5|Q6FI44	Missense_Mutation	SNP	ENST00000273047.4	37	c.430G>A	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024682	0.75390	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.76578	-1.03;-1.03	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	N	0.04018	-0.295	0.80722	D	1	B;B	0.20052	0.011;0.041	B;B	0.18263	0.014;0.021	T	0.55872	-0.8072	9	.	.	.	-9.2722	18.7069	0.91641	0.0:0.0:1.0:0.0	.	130;144	B4DJA5;P20339	.;RAB5A_HUMAN	N	144;130	ENSP00000273047:D144N;ENSP00000411941:D130N	.	D	+	1	0	RAB5A	19992657	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	9.749000	0.98871	2.498000	0.84270	0.563000	0.77884	GAT		0.343	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	NM_004162		5	24	0	0	0	0	5	24				
KLHL18	23276	broad.mit.edu	37	3	47385244	47385244	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:47385244G>A	ENST00000232766.5	+	10	1558	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	KLHL18_ENST00000455924.2_Missense_Mutation_p.R401H	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	513										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGCACACGCGCAGGAGCCGG	0.607																																						uc003crd.2		NA																	0					0						c.(1537-1539)CGC>CAC		kelch-like 18							74.0	74.0	74.0					3																	47385244		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47385244G>A	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1538G>A	3.37:g.47385244G>A	ENSP00000232766:p.Arg513His					KLHL18_uc011bav.1_Missense_Mutation_p.R401H	p.R513H	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	10	1664	+		Acute lymphoblastic leukemia(5;0.164)	513			Kelch 5.		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.1538G>A	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473503	0.96274	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.78924	-1.22;-1.22	5.15	5.15	0.70609	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.87682	2.9	0.80722	D	1	P	0.51537	0.946	P	0.48114	0.567	D	0.86316	0.1689	10	0.45353	T	0.12	.	17.8105	0.88614	0.0:0.0:1.0:0.0	.	513	O94889	KLH18_HUMAN	H	513;401	ENSP00000232766:R513H;ENSP00000405585:R401H	ENSP00000232766:R513H	R	+	2	0	KLHL18	47360248	1.000000	0.71417	0.987000	0.45799	0.972000	0.66771	9.573000	0.98181	2.683000	0.91414	0.561000	0.74099	CGC		0.607	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		4	47	0	0	0	0	4	47				
ALCAM	214	broad.mit.edu	37	3	105269028	105269028	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:105269028G>A	ENST00000306107.5	+	12	1932	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	ALCAM_ENST00000472644.2_Missense_Mutation_p.E478K|ALCAM_ENST00000389927.4_Missense_Mutation_p.E200K|ALCAM_ENST00000486979.2_Missense_Mutation_p.E427K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	478	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATTTCCCCTGAAGAGAATGT	0.348																																						uc003dvx.2		NA																	0				ovary(2)|breast(1)	3						c.(1432-1434)GAA>AAA		activated leukocyte cell adhesion molecule							91.0	110.0	104.0					3																	105269028		2201	4296	6497	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105269028G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1432G>A	3.37:g.105269028G>A	ENSP00000305988:p.Glu478Lys					ALCAM_uc003dvw.1_Missense_Mutation_p.E478K|ALCAM_uc003dvy.2_Missense_Mutation_p.E478K|ALCAM_uc010hpp.2_Missense_Mutation_p.E200K|ALCAM_uc003dvz.2_Missense_Mutation_p.E112K	p.E478K	NM_001627	NP_001618	Q13740	CD166_HUMAN			12	1972	+			478			Extracellular (Potential).|Ig-like C2-type 3.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1432G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117962	0.77323	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.13420	3.96;3.96;3.96;2.59	5.92	5.92	0.95590	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364763	0.35291	N	0.003319	T	0.25754	0.0627	L	0.27053	0.805	0.54753	D	0.999981	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.995;0.996;0.996	T	0.03249	-1.1056	10	0.13108	T	0.6	-24.4817	20.3343	0.98733	0.0:0.0:1.0:0.0	.	200;478;478	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	K	478;478;427;200	ENSP00000305988:E478K;ENSP00000419236:E478K;ENSP00000418213:E427K;ENSP00000374577:E200K	ENSP00000305988:E478K	E	+	1	0	ALCAM	106751718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.400000	0.73252	2.822000	0.97130	0.650000	0.86243	GAA		0.348	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		7	199	0	0	0	0	7	199				
KIAA1524	57650	broad.mit.edu	37	3	108308177	108308177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:108308177G>C	ENST00000295746.8	-	1	122	c.46C>G	c.(46-48)Cag>Gag	p.Q16E	DZIP3_ENST00000361582.3_5'Flank|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	16					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTTGTACTGACTGACAGTC	0.627																																						uc003dxb.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(46-48)CAG>GAG		p90 autoantigen							54.0	45.0	48.0					3																	108308177		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108308177G>C	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.46C>G	3.37:g.108308177G>C	ENSP00000295746:p.Gln16Glu					DZIP3_uc003dxd.2_5'Flank|KIAA1524_uc010hpw.1_5'UTR|DZIP3_uc003dxe.1_5'Flank	p.Q16E	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			1	315	-			16					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.46C>G	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294081	0.81025	.	.	ENSG00000163507	ENST00000295746	T	0.10192	2.9	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.63843	1.955	0.58432	D	0.999997	D	0.56968	0.978	D	0.63488	0.915	T	0.00231	-1.1896	10	0.87932	D	0	-9.1294	15.4584	0.75333	0.0:0.1391:0.8609:0.0	.	16	Q8TCG1	CIP2A_HUMAN	E	16	ENSP00000295746:Q16E	ENSP00000295746:Q16E	Q	-	1	0	KIAA1524	109790867	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.849000	0.62882	2.832000	0.97577	0.655000	0.94253	CAG		0.627	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		3	49	0	0	0	0	3	49				
POPDC2	64091	broad.mit.edu	37	3	119367224	119367224	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:119367224G>C	ENST00000264231.3	-	3	1058	c.892C>G	c.(892-894)Cag>Gag	p.Q298E	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Missense_Mutation_p.Q298E|POPDC2_ENST00000468801.1_Missense_Mutation_p.Q298E|POPDC2_ENST00000538678.1_Missense_Mutation_p.Q298E	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	298					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGTGTGGCCTGAGGAGGGGAC	0.612																																						uc003ecx.1		NA																	0				central_nervous_system(1)	1						c.(892-894)CAG>GAG		popeye protein 2							115.0	113.0	114.0					3																	119367224		2203	4300	6503	SO:0001583	missense	64091					integral to membrane		g.chr3:119367224G>C	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.892C>G	3.37:g.119367224G>C	ENSP00000264231:p.Gln298Glu					POPDC2_uc010hqw.1_Missense_Mutation_p.Q298E|POPDC2_uc003ecy.1_Missense_Mutation_p.Q116E	p.Q298E	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	3	1026	-			298					Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.892C>G	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	G	2.048	-0.418305	0.04766	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.17054	2.3;2.33;2.3;2.3	4.83	4.83	0.62350	.	1.848780	0.02428	N	0.083227	T	0.15912	0.0383	L	0.47716	1.5	0.09310	N	1	B;B	0.29301	0.241;0.001	B;B	0.24155	0.051;0.001	T	0.49652	-0.8917	10	0.02654	T	1	.	9.1562	0.36994	0.0784:0.0:0.7738:0.1478	.	298;298	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	E	298	ENSP00000264231:Q298E;ENSP00000417250:Q298E;ENSP00000420715:Q298E;ENSP00000438271:Q298E	ENSP00000264231:Q298E	Q	-	1	0	POPDC2	120849914	0.088000	0.21588	0.053000	0.19242	0.027000	0.11550	0.563000	0.23547	2.495000	0.84180	0.462000	0.41574	CAG		0.612	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		11	94	0	0	0	0	11	94				
PLXND1	23129	broad.mit.edu	37	3	129290406	129290406	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129290406G>A	ENST00000324093.4	-	17	3460	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	PLXND1_ENST00000393239.1_Silent_p.F1094F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1094	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCACCATGTGGAAACGCTCAC	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(3280-3282)TTC>TTT		plexin D1 precursor							54.0	57.0	56.0					3																	129290406		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290406G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3282C>T	3.37:g.129290406G>A							p.F1094F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			17	3382	-			1094			Extracellular (Potential).|IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3282C>T	CCDS33854.1																																																																																				0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		17	82	0	0	0	0	17	82				
TMCC1	23023	broad.mit.edu	37	3	129389275	129389276	+	Missense_Mutation	DNP	CG	CG	AA	rs368370907		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129389275_129389276CG>AA	ENST00000393238.3	-	4	1748_1749	c.1408_1409CG>TT	c.(1408-1410)CGg>TTg	p.R470L	TMCC1_ENST00000426664.2_Missense_Mutation_p.R356L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R291L|TMCC1_ENST00000432054.2_Missense_Mutation_p.R146L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	470						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGGTTTCCCGGATCTCCTGG	0.49																																						uc003emz.3		NA																	0				skin(1)	1						c.(1408-1410)CGG>TTG		transmembrane and coiled-coil domain family 1																																				SO:0001583	missense	23023					integral to membrane		g.chr3:129389275_129389276CG>AA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1408_1409delinsAA	3.37:g.129389275_129389276delinsAA	ENSP00000376930:p.Arg470Leu					TMCC1_uc003emy.3_Missense_Mutation_p.R146L|TMCC1_uc011blc.1_Missense_Mutation_p.R291L|TMCC1_uc010htg.2_Missense_Mutation_p.R356L	p.R470L	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1909_1910	-			470			Potential.		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	DNP	ENST00000393238.3	37	c.1408_1409CG>TT	CCDS33855.1																																																																																				0.490	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		29	140	0	0	0	0	29	140				
CPNE4	131034	broad.mit.edu	37	3	131300471	131300471	+	Silent	SNP	C	C	T	rs371941468		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:131300471C>T	ENST00000512055.1	-	13	2945	c.819G>A	c.(817-819)aaG>aaA	p.K273K	CPNE4_ENST00000502818.1_Silent_p.K291K|CPNE4_ENST00000512332.1_Silent_p.K291K|CPNE4_ENST00000511604.1_Silent_p.K273K|CPNE4_ENST00000429747.1_Silent_p.K273K			Q96A23	CPNE4_HUMAN	copine IV	273						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATTCTTCTTCTTGGCTTTGT	0.448																																						uc003eok.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(817-819)AAG>AAA		copine IV		C		0,4406		0,0,2203	284.0	231.0	249.0		819	5.5	1.0	3		249	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPNE4	NM_130808.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		273/558	131300471	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	131034							g.chr3:131300471C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.819G>A	3.37:g.131300471C>T						CPNE4_uc011blq.1_Silent_p.K291K|CPNE4_uc003eol.2_Silent_p.K291K|CPNE4_uc003eom.2_Silent_p.K273K	p.K273K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			9	1254	-			273					D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	c.819G>A	CCDS3072.1																																																																																				0.448	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		11	81	0	0	0	0	11	81				
CLSTN2	64084	broad.mit.edu	37	3	140284985	140284985	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:140284985G>A	ENST00000458420.3	+	17	2948	c.2758G>A	c.(2758-2760)Gac>Aac	p.D920N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	920	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGTGGCTCTGACGACAGCGA	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2758-2760)GAC>AAC		calsyntenin 2 precursor							95.0	92.0	93.0					3																	140284985		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140284985G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2758G>A	3.37:g.140284985G>A	ENSP00000402460:p.Asp920Asn	HNSCC(16;0.037)					p.D920N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			17	2948	+			920			Glu-rich (highly acidic).|Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2758G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961293	0.74016	.	.	ENSG00000158258	ENST00000458420	T	0.28895	1.59	5.59	5.59	0.84812	.	0.807531	0.11783	N	0.530014	T	0.34193	0.0889	L	0.50333	1.59	0.48632	D	0.999685	B	0.23316	0.083	B	0.27170	0.077	T	0.06826	-1.0805	9	.	.	.	-25.7885	17.0782	0.86591	0.0:0.0:1.0:0.0	.	920	Q9H4D0	CSTN2_HUMAN	N	920	ENSP00000402460:D920N	.	D	+	1	0	CLSTN2	141767675	1.000000	0.71417	0.085000	0.20634	0.744000	0.42396	7.225000	0.78051	2.619000	0.88677	0.655000	0.94253	GAC		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		22	13	0	0	0	0	22	13				
PLSCR4	57088	broad.mit.edu	37	3	145917778	145917778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:145917778G>A	ENST00000354952.2	-	6	686	c.446C>T	c.(445-447)tCa>tTa	p.S149L	PLSCR4_ENST00000446574.2_Missense_Mutation_p.S149L|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S149L|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	149				S -> L (in Ref. 8; AAP97186). {ECO:0000305}.	cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATCTGGTCTGAGTTGTTTTT	0.358																																						uc010huy.2		NA																	0					0						c.(445-447)TCA>TTA		phospholipid scramblase 4 isoform a							70.0	70.0	70.0					3																	145917778		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145917778G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.446C>T	3.37:g.145917778G>A	ENSP00000347038:p.Ser149Leu					PLSCR4_uc010huz.2_Missense_Mutation_p.S149L|PLSCR4_uc003evt.3_Missense_Mutation_p.S149L|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	p.S149L	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			6	775	-			149	S -> L (in Ref. 6; AAP97186).		Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.446C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	1.951	-0.441306	0.04604	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.32272	1.46;1.46;1.46;2.02;2.02	4.87	-1.68	0.08212	.	2.310930	0.01611	N	0.022520	T	0.10121	0.0248	N	0.00801	-1.175	0.18873	N	0.999981	B	0.02656	0.0	B	0.04013	0.001	T	0.41698	-0.9494	10	0.02654	T	1	.	11.4393	0.50088	0.6915:0.0:0.3085:0.0	.	149	Q9NRQ2	PLS4_HUMAN	L	149	ENSP00000347038:S149L;ENSP00000399315:S149L;ENSP00000419040:S149L;ENSP00000417896:S149L;ENSP00000418173:S149L	ENSP00000347038:S149L	S	-	2	0	PLSCR4	147400468	0.030000	0.19436	0.000000	0.03702	0.992000	0.81027	0.615000	0.24329	-0.441000	0.07201	0.655000	0.94253	TCA		0.358	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		11	50	0	0	0	0	11	50				
IGSF10	285313	broad.mit.edu	37	3	151167020	151167020	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:151167020G>C	ENST00000282466.3	-	4	748	c.749C>G	c.(748-750)tCt>tGt	p.S250C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	250	LRRCT.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGCACTAGAGGGACTTCT	0.408																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(748-750)TCT>TGT		immunoglobulin superfamily, member 10 precursor							67.0	69.0	68.0					3																	151167020		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151167020G>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.749C>G	3.37:g.151167020G>C	ENSP00000282466:p.Ser250Cys						p.S250C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	749	-			250			LRRCT.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.749C>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893073	0.52121	.	.	ENSG00000152580	ENST00000282466	T	0.71817	-0.6	5.37	5.37	0.77165	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.47852	D	0.000220	D	0.86456	0.5937	M	0.86864	2.845	0.41401	D	0.987675	D	0.89917	1.0	D	0.71184	0.972	D	0.88735	0.3239	10	0.72032	D	0.01	.	19.113	0.93326	0.0:0.0:1.0:0.0	.	250	Q6WRI0	IGS10_HUMAN	C	250	ENSP00000282466:S250C	ENSP00000282466:S250C	S	-	2	0	IGSF10	152649710	1.000000	0.71417	0.382000	0.26119	0.535000	0.34838	8.398000	0.90195	2.524000	0.85096	0.650000	0.86243	TCT		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		15	109	0	0	0	0	15	109				
GOLIM4	27333	broad.mit.edu	37	3	167742328	167742328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:167742328C>T	ENST00000470487.1	-	14	2535	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E588K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	616	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTCTGCCTCTTCCTGGTAC	0.443																																						uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(1846-1848)GAG>AAG		golgi integral membrane protein 4							307.0	246.0	267.0					3																	167742328		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167742328C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1846G>A	3.37:g.167742328C>T	ENSP00000417354:p.Glu616Lys					GOLIM4_uc011bpe.1_Missense_Mutation_p.E617K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E589K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E588K	p.E616K	NM_014498	NP_055313	O00461	GOLI4_HUMAN			14	2190	-			616			Glu-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.1846G>A	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681673	0.68042	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.65	5.65	0.86999	.	0.098171	0.64402	D	0.000002	T	0.78227	0.4250	M	0.76002	2.32	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.71866	-0.4463	9	0.12103	T	0.63	-22.2196	19.7916	0.96461	0.0:1.0:0.0:0.0	.	588;616	F8W785;O00461	.;GOLI4_HUMAN	K	616;588	.	ENSP00000309893:E588K	E	-	1	0	GOLIM4	169225022	1.000000	0.71417	0.899000	0.35326	0.028000	0.11728	6.449000	0.73473	2.685000	0.91497	0.650000	0.86243	GAG		0.443	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	89	0	0	0	0	4	89				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	80	0	0	0	0	8	80				
CHRD	8646	broad.mit.edu	37	3	184104641	184104641	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:184104641G>A	ENST00000204604.1	+	17	2451	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	CHRD_ENST00000545352.1_Silent_p.T277T|CHRD_ENST00000348986.3_Silent_p.T695T|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.T735T	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	735	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGACGAACGGTGATCTGTG	0.657																																						uc003fov.2		NA																	0				skin(2)|ovary(1)	3						c.(2203-2205)ACG>ACA		chordin precursor							58.0	46.0	50.0					3																	184104641		2203	4300	6503	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104641G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2205G>A	3.37:g.184104641G>A						CHRD_uc003fow.2_Silent_p.T365T|CHRD_uc003fox.2_Silent_p.T735T|CHRD_uc003foy.2_Silent_p.T365T|CHRD_uc010hyc.2_Silent_p.T325T|CHRD_uc011brr.1_Silent_p.T277T	p.T735T	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2451	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		735			VWFC 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.2205G>A	CCDS3266.1																																																																																				0.657	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		12	55	0	0	0	0	12	55				
ACAP2	23527	broad.mit.edu	37	3	195028031	195028031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:195028031C>A	ENST00000326793.6	-	12	1161	c.931G>T	c.(931-933)Gaa>Taa	p.E311*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	311	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTGAGGTCTTCAACTACCACA	0.368																																						uc003fun.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(931-933)GAA>TAA		centaurin, beta 2							130.0	124.0	126.0					3																	195028031		2203	4300	6503	SO:0001587	stop_gained	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195028031C>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.931G>T	3.37:g.195028031C>A	ENSP00000324287:p.Glu311*						p.E311*	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			12	1172	-			311			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	c.931G>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.779296|5.779296	0.96929|0.96929	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.56958|.	D|.	0.05|.	.|.	19.6475|19.6475	0.95784|0.95784	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	311|185	.|.	ENSP00000324287:E311X|.	E|X	-|-	1|2	0|2	ACAP2|ACAP2	196509320|196509320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.739000|0.739000	0.42172|0.42172	7.487000|7.487000	0.81328|0.81328	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.368	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		4	165	1	0	0.00909568	0.00942821	4	165				
IQCG	84223	broad.mit.edu	37	3	197659136	197659136	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:197659136C>G	ENST00000265239.6	-	6	977	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IQCG_ENST00000453254.1_Missense_Mutation_p.E185Q|IQCG_ENST00000455191.1_Missense_Mutation_p.E185Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	185						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTTGCAACTCCTTAATGGTA	0.413																																						uc003fyo.2		NA																	0					0						c.(553-555)GAG>CAG		IQ motif containing G							137.0	128.0	131.0					3																	197659136		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197659136C>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.553G>C	3.37:g.197659136C>G	ENSP00000265239:p.Glu185Gln					IQCG_uc003fyn.2_Missense_Mutation_p.E87Q|IQCG_uc003fyp.2_Missense_Mutation_p.E185Q|IQCG_uc003fyq.3_Missense_Mutation_p.E185Q	p.E185Q	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	699	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		185					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.553G>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074662	0.55646	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.60171	0.27;0.27;0.87;0.21	4.81	4.81	0.61882	.	0.120459	0.53938	D	0.000048	T	0.75199	0.3817	M	0.80746	2.51	0.41740	D	0.989605	D;D	0.76494	0.999;0.997	D;D	0.70935	0.971;0.921	T	0.78097	-0.2337	10	0.52906	T	0.07	-14.1638	13.7967	0.63175	0.0:1.0:0.0:0.0	.	185;185	C9JKX8;Q9H095	.;IQCG_HUMAN	Q	185;185;185;166	ENSP00000265239:E185Q;ENSP00000407736:E185Q;ENSP00000389897:E185Q;ENSP00000406411:E166Q	ENSP00000265239:E185Q	E	-	1	0	IQCG	199143533	1.000000	0.71417	0.523000	0.27875	0.558000	0.35554	2.450000	0.44943	2.386000	0.81285	0.460000	0.39030	GAG		0.413	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		16	121	0	0	0	0	16	121				
SLC9B1	150159	broad.mit.edu	37	4	103822391	103822391	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:103822391G>C	ENST00000296422.7	-	12	1572	c.1431C>G	c.(1429-1431)atC>atG	p.I477M	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	477					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTGTGATCAAGATGGCTAAAA	0.458																																						uc003hww.2		NA																	0				ovary(1)|skin(1)	2						c.(1429-1431)ATC>ATG		Na+/H+ exchanger domain containing 1 isoform 1							97.0	99.0	98.0					4																	103822391		2076	4061	6137	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822391G>C	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1431C>G	4.37:g.103822391G>C	ENSP00000296422:p.Ile477Met					NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.I250M	p.I477M	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	12	1553	-		Hepatocellular(203;0.217)	477			Helical; (Potential).		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.1431C>G	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816614	0.50633	.	.	ENSG00000164037	ENST00000296422	T	0.18960	2.18	3.91	2.98	0.34508	.	0.362374	0.29760	N	0.011268	T	0.40932	0.1137	.	.	.	0.35837	D	0.825744	D	0.89917	1.0	D	0.97110	1.0	T	0.50474	-0.8824	9	0.87932	D	0	-10.6034	6.4754	0.22033	0.2601:0.0:0.7399:0.0	.	477	Q4ZJI4	SL9B1_HUMAN	M	477	ENSP00000296422:I477M	ENSP00000296422:I477M	I	-	3	3	SLC9B1	104041840	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	2.818000	0.48041	0.897000	0.36392	0.484000	0.47621	ATC		0.458	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		15	214	0	0	0	0	15	214				
KIAA1109	84162	broad.mit.edu	37	4	123252691	123252691	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:123252691G>C	ENST00000264501.4	+	67	11833	c.11460G>C	c.(11458-11460)ttG>ttC	p.L3820F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3820F			Q2LD37	K1109_HUMAN	KIAA1109	3820					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATAAGTTTGAGAAGGTAAG	0.313																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(11458-11460)TTG>TTC		fragile site-associated protein							76.0	70.0	72.0					4																	123252691		1824	4071	5895	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123252691G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11460G>C	4.37:g.123252691G>C	ENSP00000264501:p.Leu3820Phe					KIAA1109_uc003iem.2_Missense_Mutation_p.L211F	p.L3820F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			65	11505	+			3820					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11460G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.60|11.60	1.687662|1.687662	0.29962|0.29962	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000306802	T;T;T|.	0.35973|.	2.32;2.32;1.28|.	6.03|6.03	3.33|3.33	0.38152|0.38152	.|.	0.087859|.	0.46145|.	N|.	0.000311|.	T|.	0.55081|.	0.1898|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P|.	0.45986|.	0.573;0.87|.	B;B|.	0.41571|.	0.22;0.36|.	T|.	0.52660|.	-0.8546|.	10|.	0.13853|.	T|.	0.58|.	.|.	2.6601|2.6601	0.05024|0.05024	0.3371:0.0:0.4587:0.2042|0.3371:0.0:0.4587:0.2042	.|.	3819;3820|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	F|S	3820;3820;524|231	ENSP00000264501:L3820F;ENSP00000373390:L3820F;ENSP00000410874:L524F|.	ENSP00000264501:L3820F|.	L|X	+|+	3|2	2|2	KIAA1109|KIAA1109	123472141|123472141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.661000|0.661000	0.25023|0.25023	0.852000|0.852000	0.35287|0.35287	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.313	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	26	0	0	0	0	4	26				
NEK1	4750	broad.mit.edu	37	4	170400665	170400665	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170400665C>G	ENST00000439128.2	-	22	2584	c.1944G>C	c.(1942-1944)aaG>aaC	p.K648N	NEK1_ENST00000512193.1_Missense_Mutation_p.K579N|NEK1_ENST00000510533.1_Missense_Mutation_p.K604N|NEK1_ENST00000511633.1_Missense_Mutation_p.K632N|NEK1_ENST00000507142.1_Missense_Mutation_p.K676N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	648					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATCAGAACTCTTAACTCCTT	0.348																																						uc003isb.1		NA																	0				lung(3)|ovary(2)|large_intestine(1)	6						c.(1942-1944)AAG>AAC		NIMA-related kinase 1							57.0	54.0	55.0					4																	170400665		1839	4082	5921	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170400665C>G	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1944G>C	4.37:g.170400665C>G	ENSP00000408020:p.Lys648Asn					NEK1_uc003isc.1_Missense_Mutation_p.K604N|NEK1_uc003isd.1_Missense_Mutation_p.K676N|NEK1_uc003ise.1_Missense_Mutation_p.K632N|NEK1_uc003isf.1_Missense_Mutation_p.K579N	p.K648N	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	22	2436	-		Prostate(90;0.00601)|Renal(120;0.0183)	648					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1944G>C	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169956	0.38315	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.72725	-0.68;-0.63;-0.64;-0.64;-0.66	4.67	2.72	0.32119	.	0.197125	0.35124	N	0.003427	T	0.68851	0.3046	M	0.62723	1.935	0.30763	N	0.743858	B;B;B;B;B	0.33212	0.402;0.342;0.402;0.342;0.232	B;B;B;B;B	0.41036	0.346;0.148;0.346;0.148;0.077	T	0.69281	-0.5186	10	0.41790	T	0.15	.	9.058	0.36416	0.0:0.7945:0.0:0.2055	.	579;632;676;604;648	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	N	648;632;604;676;579	ENSP00000408020:K648N;ENSP00000423332:K632N;ENSP00000427653:K604N;ENSP00000424757:K676N;ENSP00000424938:K579N	ENSP00000408020:K648N	K	-	3	2	NEK1	170637240	0.951000	0.32395	0.923000	0.36655	0.795000	0.44927	0.867000	0.27968	1.160000	0.42584	0.305000	0.20034	AAG		0.348	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			8	42	0	0	0	0	8	42				
CLCN3	1182	broad.mit.edu	37	4	170628303	170628303	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170628303G>A	ENST00000513761.1	+	11	2594	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	CLCN3_ENST00000360642.3_Missense_Mutation_p.D652N|CLCN3_ENST00000347613.4_Missense_Mutation_p.D679N|CLCN3_ENST00000504131.2_Missense_Mutation_p.D662N	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	679	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACAGTGGATGATATAGAAAA	0.423																																						uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(2035-2037)GAT>AAT		chloride channel 3 isoform b							121.0	120.0	120.0					4																	170628303		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628303G>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2035G>A	4.37:g.170628303G>A	ENSP00000424603:p.Asp679Asn					CLCN3_uc003ish.2_Missense_Mutation_p.D679N|CLCN3_uc011cjz.1_Missense_Mutation_p.D662N|CLCN3_uc011cka.1_Missense_Mutation_p.D652N|CLCN3_uc003isj.1_Missense_Mutation_p.D652N	p.D679N	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	11	2544	+		Prostate(90;0.00601)|Renal(120;0.0183)	679			CBS 1.|Cytoplasmic (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.2035G>A	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740775	0.96873	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89552	-2.23;-2.53;-2.23;-2.23;-2.53	5.69	5.69	0.88448	Cystathionine beta-synthase, core (3);	0.045335	0.85682	D	0.000000	D	0.89722	0.6797	M	0.69185	2.1	0.80722	D	1	B;B;B;B;B	0.29862	0.036;0.088;0.259;0.036;0.071	B;B;B;B;B	0.33196	0.05;0.116;0.159;0.05;0.047	D	0.88208	0.2888	10	0.72032	D	0.01	-11.6912	19.817	0.96573	0.0:0.0:1.0:0.0	.	652;662;652;679;679	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	N	679;679;652;662;652	ENSP00000424603:D679N;ENSP00000261514:D679N;ENSP00000353857:D652N;ENSP00000424540:D662N;ENSP00000425323:D652N	ENSP00000261514:D679N	D	+	1	0	CLCN3	170864878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.678000	0.91216	0.655000	0.94253	GAT		0.423	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			27	92	0	0	0	0	27	92				
RPL37	6167	broad.mit.edu	37	5	40834692	40834693	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:40834692_40834693GA>TT	ENST00000274242.5	-	2	168_169	c.19_20TC>AA	c.(19-21)TCg>AAg	p.S7K	RPL37_ENST00000504562.1_5'UTR|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000509877.1_Missense_Mutation_p.S7K|RPL37_ENST00000508493.1_Missense_Mutation_p.S7K	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				CTTTCCAAACGATGACGTTCCC	0.475																																					Colon(188;1411 2035 4978 19588 31462)	uc003jme.1		NA																	0					0						c.(19-21)TCG>AAG		ribosomal protein L37																																				SO:0001583	missense	6167				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr5:40834692_40834693GA>TT	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.19_20delinsTT	5.37:g.40834692_40834693delinsTT	ENSP00000274242:p.Ser7Lys					SNORD72_uc003jmf.1_5'Flank	p.S7K	NM_000997	NP_000988	P61927	RL37_HUMAN			2	119_120	-		Breast(839;0.238)	7					B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	DNP	ENST00000274242.5	37	c.19_20TC>AA	CCDS3934.1																																																																																				0.475	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		19	23	0	0	0	0	19	23				
ADAMTS6	11174	broad.mit.edu	37	5	64483990	64483990	+	5'UTR	SNP	T	T	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:64483990T>C	ENST00000314351.5	-	0	422							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCACTGCCCTTGTGCGCATCC	0.517																																						uc003jtp.2		NA																	0					0						c.(2761-2763)ACA>ACG		ADAM metallopeptidase with thrombospondin type 1							187.0	174.0	178.0					5																	64483990		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64483990T>C	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-900A>G	5.37:g.64483990T>C						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	p.T921T	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	22	3577	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	921			TSP type-1 3.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000314351.5	37	c.2763A>G																																																																																					0.517	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		33	97	0	0	0	0	33	97				
VCAN	1462	broad.mit.edu	37	5	82833070	82833070	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:82833070C>T	ENST00000265077.3	+	8	4813	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.L429L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1416	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAAGCATCTCGTTACCACTG	0.468																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4246-4248)CTC>CTT		versican isoform 1 precursor							47.0	50.0	49.0					5																	82833070		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833070C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4248C>T	5.37:g.82833070C>T						VCAN_uc003kij.3_Silent_p.L429L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.L80L	p.L1416L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4604	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1416			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.4248C>T	CCDS4060.1																																																																																				0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		17	27	0	0	0	0	17	27				
HSPA9	3313	broad.mit.edu	37	5	137906699	137906699	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:137906699G>A	ENST00000297185.3	-	4	485	c.360C>T	c.(358-360)acC>acT	p.T120T		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	120					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGACGCTTGGTAGCATAAA	0.468																																						uc003ldf.2		NA																	0					0						c.(358-360)ACC>ACT		heat shock 70kDa protein 9 precursor							134.0	126.0	129.0					5																	137906699		2203	4300	6503	SO:0001819	synonymous_variant	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137906699G>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.360C>T	5.37:g.137906699G>A						HSPA9_uc011cyw.1_Silent_p.T51T	p.T120T	NM_004134	NP_004125	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	468	-			120					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	c.360C>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	G	2.455	-0.325474	0.05350	.	.	ENSG00000113013	ENST00000541333	.	.	.	5.24	2.47	0.30058	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57522	-0.7797	5	0.66056	D	0.02	-13.1714	5.6265	0.17485	0.1467:0.0:0.5757:0.2776	.	.	.	.	L	90	.	ENSP00000438817:P90L	P	-	2	0	HSPA9	137934598	1.000000	0.71417	0.998000	0.56505	0.318000	0.28184	1.662000	0.37418	0.299000	0.22661	0.655000	0.94253	CCA		0.468	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		24	68	0	0	0	0	24	68				
PCDHGB3	56102	broad.mit.edu	37	5	140779900	140779900	+	Intron	SNP	C	C	A	rs538201613		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:140779900C>A	ENST00000576222.1	+	1	2546				PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGTGGTTCCCCCCAACTA	0.527																																						uc003lkf.1		NA																	0					0						c.(2206-2208)CCC>ACC		protocadherin gamma subfamily B, 5 isoform 1							202.0	209.0	207.0					5																	140779900		1992	4161	6153	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779900C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27524C>A	5.37:g.140779900C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.P736T|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	p.P736T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2206	+			736			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2206C>A	CCDS58980.1																																																																																				0.527	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		43	167	1	0	6.58e-14	7.17e-14	43	167				
PCDHGB6	56100	broad.mit.edu	37	5	140788504	140788504	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:140788504C>T	ENST00000520790.1	+	1	735	c.735C>T	c.(733-735)gaC>gaT	p.D245D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	245	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGAGACGAATATAGAA	0.502																																						uc003lkj.1		NA																	0					0						c.(733-735)GAC>GAT		protocadherin gamma subfamily B, 6 isoform 1							33.0	35.0	34.0					5																	140788504		1847	4095	5942	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788504C>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.735C>T	5.37:g.140788504C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.D245D	p.D245D	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	735	+			245			Extracellular (Potential).|Cadherin 3.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.735C>T	CCDS54929.1																																																																																				0.502	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		3	14	0	0	0	0	3	14				
ZNF300	91975	broad.mit.edu	37	5	150277669	150277669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:150277669A>G	ENST00000274599.5	-	5	640	c.220T>C	c.(220-222)Tca>Cca	p.S74P	ZNF300_ENST00000427179.1_Missense_Mutation_p.S74P|ZNF300_ENST00000446148.2_Missense_Mutation_p.S90P|ZNF300_ENST00000418587.2_Missense_Mutation_p.S38P|ZNF300_ENST00000394226.2_Missense_Mutation_p.S74P	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAATTTGATATGTCTCCC	0.378																																						uc003lsy.1		NA																	0				ovary(1)|skin(1)	2						c.(220-222)TCA>CCA		zinc finger protein 300							184.0	164.0	170.0					5																	150277669		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150277669A>G	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.220T>C	5.37:g.150277669A>G	ENSP00000274599:p.Ser74Pro					IRGM_uc011dcl.1_Intron	p.S74P	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	487	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	74			KRAB.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.220T>C	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.093292	0.01858	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.08807	3.14;3.14;3.05;5.84;3.15	3.49	-3.94	0.04130	Krueppel-associated box (1);	.	.	.	.	T	0.03095	0.0091	N	0.04063	-0.285	0.20074	N	0.999933	B	0.02656	0.0	B	0.01281	0.0	T	0.45891	-0.9230	9	0.02654	T	1	.	13.0815	0.59117	0.2307:0.0:0.7693:0.0	.	74	Q96RE9	ZN300_HUMAN	P	90;74;38;74;74	ENSP00000397178:S90P;ENSP00000274599:S74P;ENSP00000392593:S38P;ENSP00000414195:S74P;ENSP00000377773:S74P	ENSP00000274599:S74P	S	-	1	0	ZNF300	150257862	0.000000	0.05858	0.969000	0.41365	0.861000	0.49209	-0.823000	0.04443	-0.665000	0.05317	-0.371000	0.07208	TCA		0.378	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		19	60	0	0	0	0	19	60				
KCNMB1	3779	broad.mit.edu	37	5	169812329	169812329	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:169812329G>A	ENST00000274629.4	-	2	565	c.123C>T	c.(121-123)ctC>ctT	p.L41L	KCNMB1_ENST00000521859.1_Silent_p.L41L|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	41					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TTTTCTGGTAGAGGGGCAGCA	0.597																																						uc003maq.1		NA																	0				ovary(2)	2						c.(121-123)CTC>CTT		potassium large conductance calcium-activated							150.0	129.0	136.0					5																	169812329		2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169812329G>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.123C>T	5.37:g.169812329G>A						KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Silent_p.L41L	p.L41L	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	2	523	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	41			Extracellular (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.123C>T	CCDS4373.1																																																																																				0.597	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			24	68	0	0	0	0	24	68				
ADAMTS2	9509	broad.mit.edu	37	5	178557035	178557035	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:178557035G>A	ENST00000251582.7	-	16	2456	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	785	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAAGGTTTTGGAACTGGCAT	0.567																																						uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2353-2355)TCC>TCT		ADAM metallopeptidase with thrombospondin type 1							123.0	110.0	114.0					5																	178557035		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178557035G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2355C>T	5.37:g.178557035G>A							p.S785S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2355	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	785			Spacer.			Silent	SNP	ENST00000251582.7	37	c.2355C>T	CCDS4444.1																																																																																				0.567	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		15	38	0	0	0	0	15	38				
HIST1H2AK	8330	broad.mit.edu	37	6	27805967	27805968	+	Missense_Mutation	DNP	AC	AC	TA			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27805967_27805968AC>TA	ENST00000330180.2	-	1	149_150	c.150_151GT>TA	c.(148-153)gtGTac>gtTAac	p.Y51N	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	51						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCCGCCAGGTACACCGGCGCTC	0.658																																						uc003njs.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(148-153)GTGTAC>GTTAAC		histone cluster 1, H2ak																																				SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805967_27805968AC>TA	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.150_151delinsTA	6.37:g.27805967_27805968delinsTA	ENSP00000330307:p.Tyr51Asn					HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.Y51N	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	150_151	-			51					P02261|Q2M1R2|Q76PA6	Missense_Mutation	DNP	ENST00000330180.2	37	c.150_151GT>TA	CCDS4632.1																																																																																				0.658	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		7	52	0	0	0	0	7	52				
HIST1H2AM	8336	broad.mit.edu	37	6	27860925	27860925	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27860925C>T	ENST00000359611.2	-	1	38	c.3G>A	c.(1-3)atG>atA	p.M1I	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	1						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CACGTCCAGACATGGTAAAAC	0.577																																						uc003nkb.1		NA																	0		p.M1V(1)		ovary(2)	2						c.(1-3)ATG>ATA		histone cluster 1, H2am							37.0	38.0	38.0					6																	27860925		2203	4300	6503	SO:0001582	initiator_codon_variant	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860925C>T	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.3G>A	6.37:g.27860925C>T	ENSP00000352627:p.Met1Ile					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.M1I	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	39	-			1					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.3G>A	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.501744	0.44455	.	.	ENSG00000233224	ENST00000359611	D	0.92647	-3.08	3.92	3.92	0.45320	.	0.000000	0.35870	U	0.002928	D	0.94351	0.8184	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94931	0.8082	7	0.87932	D	0	.	15.7198	0.77700	0.0:1.0:0.0:0.0	.	.	.	.	I	1	ENSP00000352627:M1I	ENSP00000352627:M1I	M	-	3	0	HIST1H2AM	27968904	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.576000	0.67437	2.475000	0.83589	0.561000	0.74099	ATG		0.577	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514	Missense_Mutation	23	20	0	0	0	0	23	20				
VARS	7407	broad.mit.edu	37	6	31749637	31749637	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:31749637G>A	ENST00000375663.3	-	19	2774	c.2334C>T	c.(2332-2334)atC>atT	p.I778I	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	778					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGGAGACTGATCTTGTCAG	0.622																																						uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2332-2334)ATC>ATT		valyl-tRNA synthetase	L-Valine(DB00161)						212.0	235.0	227.0					6																	31749637		1511	2709	4220	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749637G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2334C>T	6.37:g.31749637G>A						VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	p.I778I	NM_006295	NP_006286	P26640	SYVC_HUMAN			19	2757	-			778					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2334C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104805	0.20632	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1326	5.0471	0.14490	0.1733:0.0:0.5338:0.2929	.	.	.	.	X	96	.	.	Q	-	1	0	VARS	31857616	0.207000	0.23482	1.000000	0.80357	0.991000	0.79684	0.277000	0.18734	0.752000	0.32923	-0.152000	0.13540	CAG		0.622	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		7	217	0	0	0	0	7	217				
KIF6	221458	broad.mit.edu	37	6	39513400	39513400	+	Missense_Mutation	SNP	C	C	T	rs377245127		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:39513400C>T	ENST00000287152.7	-	11	1340	c.1246G>A	c.(1246-1248)Gcg>Acg	p.A416T	KIF6_ENST00000538893.1_Missense_Mutation_p.A416T|KIF6_ENST00000373215.3_Missense_Mutation_p.A416T|KIF6_ENST00000373216.3_Missense_Mutation_p.A416T|KIF6_ENST00000373213.4_Missense_Mutation_p.A255T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCATATCCGCGCCAACCTCT	0.368																																						uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1246-1248)GCG>ACG		kinesin family member 6		C	THR/ALA	0,4406		0,0,2203	120.0	116.0	117.0		1246	-4.1	0.0	6		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF6	NM_145027.4	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	416/815	39513400	1,13005	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513400C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1246G>A	6.37:g.39513400C>T	ENSP00000287152:p.Ala416Thr					KIF6_uc010jxa.1_Missense_Mutation_p.A207T|KIF6_uc011dua.1_Missense_Mutation_p.A416T|KIF6_uc010jxb.1_Missense_Mutation_p.A416T	p.A416T	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			11	1341	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1246G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	7.919	0.738156	0.15574	0.0	1.16E-4	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893	T;T;T;T;T	0.72394	-0.6;-0.6;-0.43;-0.6;-0.65	5.56	-4.05	0.03998	.	.	.	.	.	T	0.28699	0.0711	L	0.31065	0.9	0.22412	N	0.999126	B;B;B;B	0.20550	0.046;0.015;0.033;0.027	B;B;B;B	0.19148	0.024;0.021;0.013;0.004	T	0.18777	-1.0326	9	0.21014	T	0.42	.	7.0166	0.24890	0.119:0.3654:0.0:0.5156	.	416;416;416;416	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	T	416;416;255;416;416	ENSP00000287152:A416T;ENSP00000362312:A416T;ENSP00000362309:A255T;ENSP00000362311:A416T;ENSP00000441435:A416T	ENSP00000287152:A416T	A	-	1	0	KIF6	39621378	0.000000	0.05858	0.001000	0.08648	0.301000	0.27625	-1.162000	0.03141	-0.609000	0.05724	-0.975000	0.02590	GCG		0.368	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		33	52	0	0	0	0	33	52				
DOPEY1	23033	broad.mit.edu	37	6	83818774	83818774	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83818774G>A	ENST00000349129.2	+	5	726	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	DOPEY1_ENST00000536812.1_Missense_Mutation_p.E156K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E156K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E156K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	156					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCTGGCTTAGAAGAAGGATC	0.373																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(466-468)GAA>AAA		dopey family member 1							120.0	112.0	115.0					6																	83818774		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83818774G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.466G>A	6.37:g.83818774G>A	ENSP00000195654:p.Glu156Lys					DOPEY1_uc011dyy.1_Missense_Mutation_p.E156K|DOPEY1_uc010kbl.1_Missense_Mutation_p.E156K	p.E156K	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	5	726	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	156					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.466G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	36	5.716978	0.96830	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.44482	0.99;0.98;0.92	5.74	5.74	0.90152	Dopey, N-terminal (1);	0.114155	0.64402	D	0.000016	T	0.72053	0.3413	M	0.93638	3.44	0.80722	D	1	D;P;P	0.76494	0.999;0.725;0.725	D;P;P	0.81914	0.995;0.466;0.466	T	0.78445	-0.2201	10	0.87932	D	0	.	20.3557	0.98840	0.0:0.0:1.0:0.0	.	156;156;156	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	156	ENSP00000195654:E156K;ENSP00000237163:E156K;ENSP00000358754:E156K	ENSP00000237163:E156K	E	+	1	0	DOPEY1	83875493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.412000	0.97347	2.890000	0.99128	0.585000	0.79938	GAA		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		23	73	0	0	0	0	23	73				
DOPEY1	23033	broad.mit.edu	37	6	83847361	83847361	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83847361C>T	ENST00000349129.2	+	21	3860	c.3600C>T	c.(3598-3600)tcC>tcT	p.S1200S	DOPEY1_ENST00000237163.5_Silent_p.S1181S|DOPEY1_ENST00000369739.3_Silent_p.S1191S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1200					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGATGACTCCATTCAACAGA	0.413																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(3598-3600)TCC>TCT		dopey family member 1							87.0	87.0	87.0					6																	83847361		2203	4299	6502	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83847361C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3600C>T	6.37:g.83847361C>T						DOPEY1_uc011dyy.1_Silent_p.S1191S|DOPEY1_uc010kbl.1_Silent_p.S1191S|DOPEY1_uc003pjt.2_RNA	p.S1200S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	3860	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1200					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.3600C>T	CCDS4996.1																																																																																				0.413	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		10	30	0	0	0	0	10	30				
C6orf165	154313	broad.mit.edu	37	6	88173822	88173822	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:88173822C>G	ENST00000507897.1	+	13	1806	c.1723C>G	c.(1723-1725)Cca>Gca	p.P575A	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.P575A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	575										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTGTACCCTCCAAAGGACAC	0.473																																						uc003plv.2		NA																	0				central_nervous_system(1)	1						c.(1723-1725)CCA>GCA		hypothetical protein LOC154313 isoform 1							67.0	61.0	63.0					6																	88173822		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88173822C>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1723C>G	6.37:g.88173822C>G	ENSP00000426769:p.Pro575Ala					SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.P387A|C6orf165_uc010kbv.1_RNA	p.P575A	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	13	1815	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	575					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1723C>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449794	0.12223	.	.	ENSG00000213204	ENST00000369562	T	0.37235	1.21	5.68	-9.31	0.00646	.	1.153470	0.06278	N	0.696956	T	0.16685	0.0401	M	0.78223	2.4	0.09310	N	1	B	0.17852	0.024	B	0.19391	0.025	T	0.16928	-1.0386	10	0.25106	T	0.35	.	13.6726	0.62434	0.0:0.6125:0.1905:0.197	.	575	Q8IYR0	CF165_HUMAN	A	575	ENSP00000358575:P575A	ENSP00000358575:P575A	P	+	1	0	C6orf165	88230541	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.858000	0.04281	-1.771000	0.01293	-0.471000	0.05019	CCA		0.473	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		9	30	0	0	0	0	9	30				
EPHA7	2045	broad.mit.edu	37	6	93979222	93979222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:93979222C>T	ENST00000369303.4	-	7	1790	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	536	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGCTTCCTCTAGTGTAGCA	0.353																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1606-1608)GAG>AAG		ephrin receptor EphA7 precursor							114.0	109.0	111.0					6																	93979222		2203	4299	6502	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93979222C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1606G>A	6.37:g.93979222C>T	ENSP00000358309:p.Glu536Lys					EPHA7_uc003pof.2_Missense_Mutation_p.E536K|EPHA7_uc011eac.1_Missense_Mutation_p.E536K	p.E536K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	7	1847	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	536			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1606G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324271	0.41197	.	.	ENSG00000135333	ENST00000369303	T	0.55413	0.52	5.99	5.99	0.97316	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47893	0.1470	N	0.17474	0.49	0.80722	D	1	D;P;P	0.56035	0.974;0.683;0.704	D;B;B	0.67725	0.953;0.3;0.119	T	0.33033	-0.9884	10	0.18276	T	0.48	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	536;536;536	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	536	ENSP00000358309:E536K	ENSP00000358309:E536K	E	-	1	0	EPHA7	94035943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GAG		0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			14	62	0	0	0	0	14	62				
AIM1	202	broad.mit.edu	37	6	106973169	106973169	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:106973169C>T	ENST00000369066.3	+	4	3583	c.3096C>T	c.(3094-3096)gtC>gtT	p.V1032V		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AACCCGACGTCTCTGAGAAGT	0.403																																						uc003prh.2		NA																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3094-3096)GTC>GTT		absent in melanoma 1							246.0	252.0	250.0					6																	106973169		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106973169C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3096C>T	6.37:g.106973169C>T							p.V1032V	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	4	3583	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1032			Beta/gamma crystallin 'Greek key' 1.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.3096C>T	CCDS34506.1																																																																																				0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			31	145	0	0	0	0	31	145				
RSPH4A	345895	broad.mit.edu	37	6	116937941	116937941	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:116937941G>A	ENST00000229554.5	+	1	292	c.155G>A	c.(154-156)gGa>gAa	p.G52E	RSPH4A_ENST00000368581.4_Missense_Mutation_p.G52E|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G52E	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	52					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGAAACTGGACGCCAGTCC	0.612									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(154-156)GGA>GAA		radial spoke head 4 homolog A isoform 1							33.0	41.0	38.0					6																	116937941		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116937941G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.155G>A	6.37:g.116937941G>A	ENSP00000229554:p.Gly52Glu					RSPH4A_uc010kee.2_Missense_Mutation_p.G52E	p.G52E	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			1	300	+			52					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.155G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397827	0.25205	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.61627	0.09;1.71;1.74	5.22	-0.62	0.11567	.	0.753921	0.11652	N	0.542722	T	0.11452	0.0279	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.13407	0.009;0.003	T	0.31251	-0.9950	10	0.10111	T	0.7	-5.9494	4.1484	0.10227	0.35:0.3288:0.3212:0.0	.	52;52	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	E	52	ENSP00000357570:G52E;ENSP00000229554:G52E;ENSP00000357569:G52E	ENSP00000229554:G52E	G	+	2	0	RSPH4A	117044634	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.568000	0.05909	-0.013000	0.14199	0.650000	0.86243	GGA		0.612	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		5	27	0	0	0	0	5	27				
SYNE1	23345	broad.mit.edu	37	6	152510447	152510447	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152510447G>A	ENST00000367255.5	-	128	23842	c.23241C>T	c.(23239-23241)atC>atT	p.I7747I	SYNE1_ENST00000423061.1_Silent_p.I7676I|SYNE1_ENST00000265368.4_Silent_p.I7747I|SYNE1_ENST00000341594.5_Silent_p.I7359I|SYNE1_ENST00000448038.1_Silent_p.I7676I|SYNE1_ENST00000356820.4_Silent_p.I2271I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7747					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGAATGGAGATATCATCAG	0.433										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(23239-23241)ATC>ATT		spectrin repeat containing, nuclear envelope 1							153.0	146.0	149.0					6																	152510447		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152510447G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23241C>T	6.37:g.152510447G>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.I2271I|SYNE1_uc003qos.3_Silent_p.I2271I|SYNE1_uc003qot.3_Silent_p.I7676I|SYNE1_uc003qou.3_Silent_p.I7747I|SYNE1_uc003qoq.3_5'UTR|SYNE1_uc003qor.3_Silent_p.I647I	p.I7747I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	128	23843	-		Ovarian(120;0.0955)	7747			Cytoplasmic (Potential).|Spectrin 26.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.23241C>T	CCDS5236.2																																																																																				0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	80	0	0	0	0	15	80				
SYNE1	23345	broad.mit.edu	37	6	152776622	152776622	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152776622C>T	ENST00000367255.5	-	24	3432	c.2831G>A	c.(2830-2832)cGg>cAg	p.R944Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.R951Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R944Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1010Q|SYNE1_ENST00000495090.2_Missense_Mutation_p.R511Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R951Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.R944Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.R944Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R934Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	944					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGCAATCCGCAGTACCTT	0.507										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(2830-2832)CGG>CAG		spectrin repeat containing, nuclear envelope 1							111.0	107.0	108.0					6																	152776622		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152776622C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2831G>A	6.37:g.152776622C>T	ENSP00000356224:p.Arg944Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R951Q|SYNE1_uc003qou.3_Missense_Mutation_p.R944Q|SYNE1_uc010kjb.1_Missense_Mutation_p.R927Q|SYNE1_uc003qow.2_Missense_Mutation_p.R239Q|SYNE1_uc003qox.1_Missense_Mutation_p.R460Q|SYNE1_uc003qoz.2_Missense_Mutation_p.R376Q|SYNE1_uc003qoy.2_Missense_Mutation_p.R511Q	p.R944Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	24	3433	-		Ovarian(120;0.0955)	944			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2831G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379219	0.42207	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.48	0.951	0.19579	.	0.245141	0.28414	N	0.015421	T	0.04724	0.0128	N	0.11201	0.11	0.19575	N	0.999964	B;B;B;B;B;B;B	0.22480	0.07;0.022;0.066;0.037;0.066;0.022;0.037	B;B;B;B;B;B;B	0.16722	0.005;0.003;0.007;0.007;0.016;0.003;0.007	T	0.33548	-0.9864	10	0.22706	T	0.39	.	2.8872	0.05664	0.204:0.3141:0.0:0.4819	.	927;944;511;934;944;944;951	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	Q	944;951;944;951;1010;944;934;944;511	ENSP00000356224:R944Q;ENSP00000396024:R951Q;ENSP00000265368:R944Q;ENSP00000390975:R951Q;ENSP00000341887:R1010Q;ENSP00000356222:R944Q;ENSP00000356217:R934Q;ENSP00000414510:R944Q;ENSP00000438508:R511Q	ENSP00000265368:R944Q	R	-	2	0	SYNE1	152818315	0.054000	0.20591	0.001000	0.08648	0.979000	0.70002	1.263000	0.33004	0.684000	0.31448	0.655000	0.94253	CGG		0.507	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	73	0	0	0	0	4	73				
RPS6KA2	6196	broad.mit.edu	37	6	166944772	166944772	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:166944772G>A	ENST00000265678.4	-	3	469	c.246C>T	c.(244-246)tcC>tcT	p.S82S	RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000366863.2_5'UTR|Z98049.1_ENST00000598601.1_5'Flank|RPS6KA2_ENST00000503859.1_Silent_p.S90S|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000510118.1_Silent_p.S107S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	82	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCCCAGCGTCGGACCCCTTCA	0.498																																						uc003qvb.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(244-246)TCC>TCT		ribosomal protein S6 kinase, 90kDa, polypeptide							98.0	103.0	102.0					6																	166944772		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166944772G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.246C>T	6.37:g.166944772G>A						RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Silent_p.S90S|RPS6KA2_uc003qvd.1_Silent_p.S107S	p.S82S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	3	465	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	82			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.246C>T	CCDS5294.1																																																																																				0.498	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		23	66	0	0	0	0	23	66				
ZNF12	7559	broad.mit.edu	37	7	6731675	6731675	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731675T>A	ENST00000405858.1	-	5	1439	c.898A>T	c.(898-900)Aat>Tat	p.N300Y	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.N226Y|ZNF12_ENST00000342651.5_Missense_Mutation_p.N262Y|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	300					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACACTGATTACATTCGTAA	0.423																																						uc003sqt.1		NA																	0					0						c.(898-900)AAT>TAT		zinc finger protein 12 isoform a							77.0	85.0	82.0					7																	6731675		2198	4299	6497	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731675T>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.898A>T	7.37:g.6731675T>A	ENSP00000385939:p.Asn300Tyr					ZNF12_uc011jxa.1_Missense_Mutation_p.N138Y|ZNF12_uc003sqs.1_Missense_Mutation_p.N262Y	p.N300Y	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1452	-		Ovarian(82;0.0776)	300			C2H2-type 2.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.898A>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569863	0.45798	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.18016	2.24;2.24;2.24	4.03	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.561109	0.15122	N	0.279326	T	0.27489	0.0675	M	0.65498	2.005	0.21290	N	0.999736	P;P	0.46706	0.808;0.883	P;P	0.54312	0.748;0.632	T	0.13019	-1.0525	10	0.87932	D	0	.	3.6528	0.08210	0.1908:0.1033:0.0:0.7059	.	300;262	P17014;P17014-5	ZNF12_HUMAN;.	Y	226;300;262;358;264	ENSP00000384405:N226Y;ENSP00000385939:N300Y;ENSP00000344745:N262Y	ENSP00000331039:N264Y	N	-	1	0	ZNF12	6698200	0.000000	0.05858	0.260000	0.24451	0.984000	0.73092	-1.357000	0.02607	0.890000	0.36211	-0.360000	0.07572	AAT		0.423	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		10	60	0	0	0	0	10	60				
ZNF12	7559	broad.mit.edu	37	7	6731957	6731957	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731957G>C	ENST00000405858.1	-	5	1157	c.616C>G	c.(616-618)Ctt>Gtt	p.L206V	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.L132V|ZNF12_ENST00000342651.5_Missense_Mutation_p.L168V|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	206					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCTGATAAAGACTTTCTTCA	0.328																																						uc003sqt.1		NA																	0					0						c.(616-618)CTT>GTT		zinc finger protein 12 isoform a							41.0	38.0	39.0					7																	6731957		1821	4082	5903	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731957G>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.616C>G	7.37:g.6731957G>C	ENSP00000385939:p.Leu206Val					ZNF12_uc011jxa.1_Missense_Mutation_p.L44V|ZNF12_uc003sqs.1_Missense_Mutation_p.L168V	p.L206V	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1170	-		Ovarian(82;0.0776)	206					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.616C>G	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.299729	0.00243	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.05649	3.41;3.49;3.48	4.03	-1.3	0.09259	.	0.746585	0.11496	N	0.558181	T	0.02494	0.0076	N	0.10972	0.075	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46652	-0.9176	10	0.18276	T	0.48	.	1.4805	0.02436	0.1702:0.1129:0.3854:0.3314	.	206;168	P17014;P17014-5	ZNF12_HUMAN;.	V	132;206;168;264;170	ENSP00000384405:L132V;ENSP00000385939:L206V;ENSP00000344745:L168V	ENSP00000331039:L170V	L	-	1	0	ZNF12	6698482	0.015000	0.18098	0.002000	0.10522	0.728000	0.41692	-0.012000	0.12699	-0.218000	0.10018	-0.457000	0.05445	CTT		0.328	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		6	26	0	0	0	0	6	26				
RFC2	5982	broad.mit.edu	37	7	73663387	73663387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:73663387G>A	ENST00000055077.3	-	4	347	c.287C>T	c.(286-288)cCa>cTa	p.P96L	RFC2_ENST00000352131.3_Missense_Mutation_p.P96L	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	96					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TTTGAGTGCTGGGCCCAGCAG	0.542																																						uc003uaj.2		NA																	0				liver(1)|central_nervous_system(1)	2						c.(286-288)CCA>CTA		replication factor C 2 isoform 1							85.0	93.0	90.0					7																	73663387		2203	4300	6503	SO:0001583	missense	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73663387G>A		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.287C>T	7.37:g.73663387G>A	ENSP00000055077:p.Pro96Leu					RFC2_uc011kfa.1_RNA|RFC2_uc003uak.2_Missense_Mutation_p.P96L|RFC2_uc010lbp.2_Missense_Mutation_p.P59L|RFC2_uc003ual.2_5'UTR	p.P96L	NM_181471	NP_852136	P35250	RFC2_HUMAN			4	312	-			96					B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	c.287C>T	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081084	0.76528	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	T;T	0.39787	1.06;1.06	4.65	3.75	0.43078	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.115975	0.64402	D	0.000014	T	0.36441	0.0967	L	0.44542	1.39	0.58432	D	0.999999	B;B;B	0.34061	0.38;0.434;0.436	B;B;B	0.35931	0.136;0.214;0.214	T	0.27157	-1.0082	10	0.59425	D	0.04	.	11.4932	0.50394	0.0:0.0:0.82:0.18	.	96;96;96	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	L	96	ENSP00000275627:P96L;ENSP00000055077:P96L	ENSP00000055077:P96L	P	-	2	0	RFC2	73301323	1.000000	0.71417	0.805000	0.32314	0.821000	0.46438	7.536000	0.82023	1.075000	0.40932	0.455000	0.32223	CCA		0.542	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		25	106	0	0	0	0	25	106				
SEMA3E	9723	broad.mit.edu	37	7	83029401	83029401	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:83029401C>A	ENST00000307792.3	-	11	1776	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A377S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	437	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CGATCTACTGCTATTTGTTTC	0.378																																						uc003uhy.1		NA																	0				ovary(3)	3						c.(1309-1311)GCA>TCA		semaphorin 3E precursor							222.0	200.0	207.0					7																	83029401		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029401C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1309G>T	7.37:g.83029401C>A	ENSP00000303212:p.Ala437Ser						p.A437S	NM_012431	NP_036563	O15041	SEM3E_HUMAN			11	1775	-		Medulloblastoma(109;0.109)	437			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1309G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723366	0.89298	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.27256	1.68;1.68	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054083	0.64402	D	0.000001	T	0.46171	0.1379	M	0.76727	2.345	0.58432	D	0.999997	P	0.42649	0.786	P	0.50708	0.648	T	0.45687	-0.9244	10	0.66056	D	0.02	.	19.1567	0.93514	0.0:1.0:0.0:0.0	.	437	O15041	SEM3E_HUMAN	S	437;377;437	ENSP00000303212:A437S;ENSP00000405052:A377S	ENSP00000303212:A437S	A	-	1	0	SEMA3E	82867337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.792000	0.62467	2.499000	0.84300	0.591000	0.81541	GCA		0.378	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		26	123	1	0	1.77e-15	1.94e-15	26	123				
TRRAP	8295	broad.mit.edu	37	7	98601841	98601841	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:98601841G>A	ENST00000359863.4	+	67	10505	c.10296G>A	c.(10294-10296)atG>atA	p.M3432I	TRRAP_ENST00000446306.3_Missense_Mutation_p.M3421I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3403I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3432					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGATCCATGAAGCTTCATA	0.378																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10294-10296)ATG>ATA		transformation/transcription domain-associated							87.0	99.0	95.0					7																	98601841		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98601841G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10296G>A	7.37:g.98601841G>A	ENSP00000352925:p.Met3432Ile					TRRAP_uc011kis.1_Missense_Mutation_p.M3403I|TRRAP_uc003upr.2_Missense_Mutation_p.M3138I	p.M3432I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		67	10505	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3432					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10296G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461063	0.63513	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02837	4.15;4.14	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.05135	0.0137	L	0.59436	1.845	0.80722	D	1	B;B;B	0.30709	0.291;0.023;0.122	B;B;B	0.24848	0.056;0.009;0.017	T	0.42965	-0.9420	10	0.34782	T	0.22	.	18.7376	0.91761	0.0:0.0:1.0:0.0	.	3403;3160;3432	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	3432;3403;3420	ENSP00000352925:M3432I;ENSP00000347733:M3403I	ENSP00000347733:M3403I	M	+	3	0	TRRAP	98439777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.424000	0.82194	0.650000	0.86243	ATG		0.378	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		25	153	0	0	0	0	25	153				
ZSCAN25	221785	broad.mit.edu	37	7	99219092	99219092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99219092G>A	ENST00000394152.2	+	5	811	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E162K|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E162K	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTCAAGCCTGAATGGGGGAT	0.617																																						uc003url.1		NA																	0				ovary(2)	2						c.(484-486)GAA>AAA		zinc finger and SCAN domain containing 25							65.0	62.0	63.0					7																	99219092		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99219092G>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.484G>A	7.37:g.99219092G>A	ENSP00000377708:p.Glu162Lys					ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.E162K|ZNF498_uc003uro.1_5'UTR	p.E162K	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			5	811	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		162					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.484G>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583028	0.65992	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.07908	3.18;3.18;3.15	5.08	5.08	0.68730	.	0.000000	0.49305	D	0.000159	T	0.14787	0.0357	L	0.42245	1.32	0.31531	N	0.661234	D;D	0.61697	0.99;0.982	P;P	0.60682	0.878;0.758	T	0.00931	-1.1510	10	0.02654	T	1	-32.1871	14.7097	0.69222	0.0:0.0:1.0:0.0	.	162;162	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	K	162	ENSP00000377708:E162K;ENSP00000334800:E162K;ENSP00000262941:E162K	ENSP00000262941:E162K	E	+	1	0	ZNF498	99057028	0.990000	0.36364	0.991000	0.47740	0.904000	0.53231	4.407000	0.59754	2.736000	0.93811	0.655000	0.94253	GAA		0.617	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		17	100	0	0	0	0	17	100				
CYP3A7	1551	broad.mit.edu	37	7	99305456	99305456	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99305456G>A	ENST00000336374.2	-	12	1397	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	465					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TACAAGGTTTGAAGGAGAAGT	0.353																																						uc003uru.2		NA																	0				ovary(1)	1						c.(1393-1395)TTC>TTT		cytochrome P450, family 3, subfamily A,							203.0	185.0	191.0					7																	99305456		2203	4300	6503	SO:0001819	synonymous_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99305456G>A	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1395C>T	7.37:g.99305456G>A						ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.F465F	NM_000765	NP_000756	P24462	CP3A7_HUMAN			12	1500	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		465					A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	c.1395C>T	CCDS5673.1																																																																																				0.353	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			24	184	0	0	0	0	24	184				
SLC12A9	56996	broad.mit.edu	37	7	100463640	100463640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:100463640C>T	ENST00000354161.3	+	14	2283	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	720					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCACCTCTCAGCTGCACCA	0.692																																						uc003uwp.2		NA																	0					0						c.(2158-2160)CAG>TAG		solute carrier family 12 (potassium/chloride							62.0	79.0	73.0					7																	100463640		2197	4286	6483	SO:0001587	stop_gained	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463640C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2158C>T	7.37:g.100463640C>T	ENSP00000275730:p.Gln720*					SLC12A9_uc011kki.1_Nonsense_Mutation_p.Q251*|SLC12A9_uc003uwr.2_Nonsense_Mutation_p.Q456*|SLC12A9_uc003uws.2_Nonsense_Mutation_p.Q251*|SLC12A9_uc003uwt.2_Nonsense_Mutation_p.Q456*|SLC12A9_uc003uwv.2_Nonsense_Mutation_p.Q251*|TRIP6_uc010lhk.1_5'Flank|TRIP6_uc003uww.2_5'Flank	p.Q720*	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			14	2300	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		720			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Nonsense_Mutation	SNP	ENST00000354161.3	37	c.2158C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425205	0.97555	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	.	.	.	5.24	3.27	0.37495	.	0.757174	0.12019	N	0.507146	.	.	.	.	.	.	0.19300	N	0.999974	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	7.9608	0.30070	0.3834:0.4704:0.1463:0.0	.	.	.	.	X	720;346	.	ENSP00000275730:Q720X	Q	+	1	0	SLC12A9	100301576	0.004000	0.15560	0.001000	0.08648	0.967000	0.64934	1.444000	0.35068	0.437000	0.26423	0.555000	0.69702	CAG		0.692	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		31	317	0	0	0	0	31	317				
DOCK4	9732	broad.mit.edu	37	7	111400292	111400292	+	Silent	SNP	G	G	A	rs529221240		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:111400292G>A	ENST00000437633.1	-	39	4336	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	DOCK4_ENST00000494651.2_Silent_p.I243I|DOCK4_ENST00000428084.1_Silent_p.I1369I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1360	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGCATGGCGATGGCATGGG	0.547																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(4078-4080)ATC>ATT		dedicator of cytokinesis 4							183.0	187.0	186.0					7																	111400292		2148	4256	6404	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111400292G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4080C>T	7.37:g.111400292G>A						DOCK4_uc011kml.1_Silent_p.I241I|DOCK4_uc011kmm.1_Silent_p.I267I|DOCK4_uc003vfw.2_Silent_p.I810I|DOCK4_uc003vfy.2_Silent_p.I1405I	p.I1360I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			39	4349	-		Acute lymphoblastic leukemia(1;0.0441)	1360			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.4080C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503319	0.26949	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.72	1.94	0.25998	.	.	.	.	.	T	0.52338	0.1728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43114	-0.9411	4	.	.	.	.	5.4564	0.16592	0.5124:0.0:0.4876:0.0	.	.	.	.	L	821;1393	.	.	S	-	2	0	DOCK4	111187528	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.431000	0.34925	0.718000	0.32166	-0.229000	0.12294	TCG		0.547	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		27	245	0	0	0	0	27	245				
CPED1	79974	broad.mit.edu	37	7	120629789	120629789	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:120629789G>C	ENST00000310396.5	+	2	581	c.114G>C	c.(112-114)tcG>tcC	p.S38S	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Silent_p.S38S|CPED1_ENST00000340646.5_Silent_p.S38S	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	38						endoplasmic reticulum (GO:0005783)											TCCGAGGGTCGAGGAAGCTCA	0.572																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(112-114)TCG>TCC		hypothetical protein LOC79974 isoform 1							99.0	99.0	99.0					7																	120629789		2203	4300	6503	SO:0001819	synonymous_variant	79974					endoplasmic reticulum		g.chr7:120629789G>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.114G>C	7.37:g.120629789G>C						C7orf58_uc003vjr.1_Silent_p.S38S|C7orf58_uc003vjs.3_Silent_p.S38S	p.S38S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			2	561	+	all_neural(327;0.117)		38					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.114G>C	CCDS34739.1																																																																																				0.572	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		12	63	0	0	0	0	12	63				
KEL	3792	broad.mit.edu	37	7	142651327	142651327	+	Missense_Mutation	SNP	C	C	T	rs537189264		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:142651327C>T	ENST00000355265.2	-	8	1342	c.868G>A	c.(868-870)Gag>Aag	p.E290K	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	290					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGCCGCTGCTCCAGGGGCCTC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18681	0.001		0.0	False		,,,				2504	0.0					uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(868-870)GAG>AAG		Kell blood group, metallo-endopeptidase							51.0	56.0	55.0					7																	142651327		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651327C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.868G>A	7.37:g.142651327C>T	ENSP00000347409:p.Glu290Lys						p.E290K	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1078	-	Melanoma(164;0.059)		290			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.868G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457521	0.26161	.	.	ENSG00000197993	ENST00000355265	T	0.78246	-1.16	5.96	4.11	0.48088	Peptidase M13 (1);	0.564055	0.16018	N	0.233459	T	0.76716	0.4026	M	0.68952	2.095	0.09310	N	1	B	0.22146	0.065	B	0.24701	0.055	T	0.68273	-0.5452	10	0.62326	D	0.03	-19.1861	12.9756	0.58537	0.0:0.6759:0.3241:0.0	.	290	P23276	KELL_HUMAN	K	290	ENSP00000347409:E290K	ENSP00000347409:E290K	E	-	1	0	KEL	142361449	0.011000	0.17503	0.231000	0.23993	0.018000	0.09664	0.687000	0.25407	0.815000	0.34398	-0.283000	0.09986	GAG		0.582	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		4	30	0	0	0	0	4	30				
KMT2C	58508	broad.mit.edu	37	7	151900145	151900145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:151900145C>T	ENST00000262189.6	-	26	4184	c.3966G>A	c.(3964-3966)tgG>tgA	p.W1322*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.W1322*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1322					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTGCTCACTCCAGCCTGAAA	0.328																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3964-3966)TGG>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							84.0	81.0	82.0					7																	151900145		2202	4298	6500	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151900145C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3966G>A	7.37:g.151900145C>T	ENSP00000262189:p.Trp1322*					MLL3_uc003wkz.2_Nonsense_Mutation_p.W383*	p.W1322*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	26	4185	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1322					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3966G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	45	11.752326	0.99599	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.26	5.26	0.73747	.	0.000000	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	18.4445	0.90678	0.0:1.0:0.0:0.0	.	.	.	.	X	1322	.	ENSP00000262189:W1322X	W	-	3	0	MLL3	151531078	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.023000	0.76437	2.471000	0.83476	0.585000	0.79938	TGG		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	17	0	0	0	0	5	17				
RP1	6101	broad.mit.edu	37	8	55537230	55537230	+	Splice_Site	SNP	T	T	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:55537230T>A	ENST00000220676.1	+	4	936	c.788T>A	c.(787-789)aTa>aAa	p.I263K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	263					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCTTTAAAGTAAGCACACAT	0.333																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(787-789)ATA>AAA		retinitis pigmentosa RP1 protein							50.0	59.0	56.0					8																	55537230		2203	4295	6498	SO:0001630	splice_region_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537230T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.788-1T>A	8.37:g.55537230T>A						RP1_uc011ldy.1_Intron	p.I263K	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	936	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	263						Missense_Mutation	SNP	ENST00000220676.1	37	c.788T>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.240313	0.22711	.	.	ENSG00000104237	ENST00000220676	T	0.23950	1.88	5.29	3.99	0.46301	.	0.339341	0.29009	N	0.013429	T	0.11153	0.0272	N	0.08118	0	0.45403	D	0.998389	B	0.27068	0.167	B	0.21360	0.034	T	0.15925	-1.0420	9	.	.	.	.	8.45	0.32864	0.0:0.2399:0.0:0.7601	.	263	P56715	RP1_HUMAN	K	263	ENSP00000220676:I263K	.	I	+	2	0	RP1	55699783	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	1.378000	0.34328	0.722000	0.32252	0.533000	0.62120	ATA		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	Missense_Mutation	20	55	0	0	0	0	20	55				
PREX2	80243	broad.mit.edu	37	8	68992764	68992764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:68992764C>T	ENST00000288368.4	+	16	2006	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	577					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATGAAACATCGACTTATGAA	0.313																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(1729-1731)CGA>TGA		DEP domain containing 2 isoform a							77.0	75.0	76.0					8																	68992764		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992764C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1729C>T	8.37:g.68992764C>T	ENSP00000288368:p.Arg577*					PREX2_uc003xxu.1_Nonsense_Mutation_p.R577*|PREX2_uc011lez.1_Nonsense_Mutation_p.R512*	p.R577*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			16	1756	+			577					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.1729C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.672460	0.98910	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	5.59	0.998	0.19857	.	0.058685	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.8827	0.70545	0.621:0.379:0.0:0.0	.	.	.	.	X	577	.	ENSP00000288368:R577X	R	+	1	2	PREX2	69155318	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	2.906000	0.48735	0.236000	0.21180	0.650000	0.86243	CGA		0.313	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		3	53	0	0	0	0	3	53				
KCNB2	9312	broad.mit.edu	37	8	73849010	73849010	+	Missense_Mutation	SNP	G	G	A	rs140088625		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:73849010G>A	ENST00000523207.1	+	3	2008	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	474					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E474K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAAGGCCGGAGAGTCCGCCAA	0.532																																						uc003xzb.2		NA																	2	Substitution - Missense(2)	p.E474K(1)	skin(2)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1420-1422)GAG>AAG		potassium voltage-gated channel, Shab-related							70.0	77.0	75.0					8																	73849010		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849010G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1420G>A	8.37:g.73849010G>A	ENSP00000430846:p.Glu474Lys						p.E474K	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2008	+	Breast(64;0.137)		474			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1420G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968467	0.53614	.	.	ENSG00000182674	ENST00000523207	T	0.30182	1.54	5.74	5.74	0.90152	.	1.435080	0.04497	N	0.380571	T	0.47875	0.1469	L	0.55990	1.75	0.58432	D	0.999997	P	0.38020	0.615	P	0.44696	0.458	T	0.31024	-0.9958	10	0.38643	T	0.18	.	19.91	0.97023	0.0:0.0:1.0:0.0	.	474	Q92953	KCNB2_HUMAN	K	474	ENSP00000430846:E474K	ENSP00000430846:E474K	E	+	1	0	KCNB2	74011564	1.000000	0.71417	0.941000	0.38009	0.162000	0.22319	6.621000	0.74228	2.702000	0.92279	0.655000	0.94253	GAG		0.532	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		18	110	0	0	0	0	18	110				
CSMD3	114788	broad.mit.edu	37	8	113326672	113326672	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:113326672A>C	ENST00000297405.5	-	48	7779	c.7535T>G	c.(7534-7536)cTt>cGt	p.L2512R	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2472R|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2408R|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2442R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2512	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2512H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACACCTGAAGAACATCAAA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	1	Substitution - Missense(1)	p.L2512H(1)	ovary(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7534-7536)CTT>CGT		CUB and Sushi multiple domains 3 isoform 1							97.0	94.0	95.0					8																	113326672		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326672A>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7535T>G	8.37:g.113326672A>C	ENSP00000297405:p.Leu2512Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L1714R|CSMD3_uc003ynt.2_Missense_Mutation_p.L2472R|CSMD3_uc011lhx.1_Missense_Mutation_p.L2408R|CSMD3_uc003ynw.1_Missense_Mutation_p.L223R	p.L2512R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7694	-			2512			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7535T>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764123	0.69878	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.98	3.82	0.43975	CUB (5);	0.093892	0.42420	D	0.000715	T	0.80144	0.4569	H	0.97707	4.06	0.47659	D	0.999488	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.983;1.0;0.991	D	0.83518	0.0084	10	0.54805	T	0.06	.	10.6389	0.45582	0.9244:0.0:0.0756:0.0	.	2408;2512;2472	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2472;2512;1782;2408;2442	ENSP00000345799:L2472R;ENSP00000297405:L2512R;ENSP00000341558:L1782R;ENSP00000412263:L2408R;ENSP00000343124:L2442R	ENSP00000297405:L2512R	L	-	2	0	CSMD3	113395848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	0.920000	0.36970	0.472000	0.43445	CTT		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	53	0	0	0	0	11	53				
RAD21	5885	broad.mit.edu	37	8	117868438	117868438	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:117868438C>T	ENST00000297338.2	-	8	1191	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	302	Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCAAATGCTTCTTCCTCATTT	0.398																																						uc003yod.2		NA																	0				lung(1)|skin(1)	2						c.(904-906)GAA>AAA		RAD21 homolog							160.0	147.0	151.0					8																	117868438		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117868438C>T	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.904G>A	8.37:g.117868438C>T	ENSP00000297338:p.Glu302Lys						p.E302K	NM_006265	NP_006256	O60216	RAD21_HUMAN			8	1192	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		302			Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.904G>A	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036042	0.93630	.	.	ENSG00000164754	ENST00000297338	T	0.74737	-0.87	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85982	0.5824	M	0.78049	2.395	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.82619	-0.0368	10	0.23891	T	0.37	-7.4674	19.6408	0.95757	0.0:1.0:0.0:0.0	.	302	O60216	RAD21_HUMAN	K	302	ENSP00000297338:E302K	ENSP00000297338:E302K	E	-	1	0	RAD21	117937619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.808000	0.86044	2.643000	0.89663	0.650000	0.86243	GAA		0.398	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		14	108	0	0	0	0	14	108				
PTK2	5747	broad.mit.edu	37	8	141900645	141900645	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:141900645G>C	ENST00000522684.1	-	3	421	c.192C>G	c.(190-192)gtC>gtG	p.V64V	PTK2_ENST00000520892.1_Silent_p.V64V|PTK2_ENST00000517887.1_Silent_p.V108V|PTK2_ENST00000521059.1_Silent_p.V64V|PTK2_ENST00000535192.1_Silent_p.V64V|PTK2_ENST00000340930.3_Silent_p.V64V|PTK2_ENST00000519881.1_Silent_p.V64V|PTK2_ENST00000395218.2_Silent_p.V64V|PTK2_ENST00000519419.1_Silent_p.V108V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	64	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACTTACCCTGACATCAGTAG	0.343																																						uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(190-192)GTC>GTG		PTK2 protein tyrosine kinase 2 isoform a							97.0	86.0	90.0					8																	141900645		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141900645G>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.192C>G	8.37:g.141900645G>C						PTK2_uc003yvs.2_Silent_p.V64V|PTK2_uc003yvt.2_Silent_p.V86V|PTK2_uc003yvv.2_Nonsense_Mutation_p.S7*|PTK2_uc011ljr.1_Silent_p.V64V	p.V64V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		3	422	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	64			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.192C>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.199|9.199	1.028002|1.028002	0.19512|0.19512	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000354438	.|.	.|.	.|.	5.69|5.69	2.77|2.77	0.32553|0.32553	.|.	.|.	.|.	.|.	.|.	T|.	0.59985|.	0.2234|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59783|.	-0.7389|.	4|.	.|0.87932	.|D	.|0	.|.	4.7936|4.7936	0.13261|0.13261	0.1515:0.1137:0.6187:0.1161|0.1515:0.1137:0.6187:0.1161	.|.	.|.	.|.	.|.	E|X	75|27	.|.	.|ENSP00000346424:S27X	Q|S	-|-	1|2	0|0	PTK2|PTK2	141969827|141969827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.930000|1.930000	0.40124|0.40124	0.684000|0.684000	0.31448|0.31448	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.343	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		12	69	0	0	0	0	12	69				
ACER2	340485	broad.mit.edu	37	9	19435048	19435048	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:19435048C>T	ENST00000340967.2	+	4	495	c.469C>T	c.(469-471)Cct>Tct	p.P157S	ACER2_ENST00000380376.1_Missense_Mutation_p.P108S	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTGGGAGTTCCTTGCACTGC	0.552																																						uc003zny.1		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(469-471)CCT>TCT		alkaline ceramidase 2							234.0	177.0	197.0					9																	19435048		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19435048C>T	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.469C>T	9.37:g.19435048C>T	ENSP00000342609:p.Pro157Ser					ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.P108S	p.P157S	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN			4	627	+			157			Helical; (Potential).		A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.469C>T	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031225	0.75504	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.41065	1.01;1.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66901	-0.5806	9	.	.	.	.	19.6746	0.95926	0.0:1.0:0.0:0.0	.	157	Q5QJU3	ACER2_HUMAN	S	108;157	ENSP00000369735:P108S;ENSP00000342609:P157S	.	P	+	1	0	ACER2	19425048	1.000000	0.71417	0.661000	0.29709	0.377000	0.30045	7.246000	0.78247	2.747000	0.94245	0.650000	0.86243	CCT		0.552	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		16	48	0	0	0	0	16	48				
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1112)|p.?(13)|p.E88*(13)|p.E88E(6)|p.E88K(3)|p.H83fs*2(2)|p.E88D(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(262-264)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971096C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>T	9.37:g.21971096C>A	ENSP00000307101:p.Glu88*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G143V	p.E88*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	474	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	88		E -> D (in a biliary tract tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.262G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	9	1	0	1.58e-08	1.7e-08	11	9				
RUSC2	9853	broad.mit.edu	37	9	35558285	35558285	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:35558285G>A	ENST00000455600.1	+	7	3721	c.3152G>A	c.(3151-3153)gGg>gAg	p.G1051E		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1051	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAGGATGGGCTCAAGGCC	0.582																																						uc003zww.2		NA																	0				ovary(1)	1						c.(3151-3153)GGG>GAG		RUN and SH3 domain containing 2							100.0	87.0	91.0					9																	35558285		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35558285G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3152G>A	9.37:g.35558285G>A	ENSP00000393922:p.Gly1051Glu					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1051E	p.G1051E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		7	3407	+			1051			RUN.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3152G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342221	0.95783	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.55234	0.53;0.53	5.72	5.72	0.89469	RUN (2);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77094	-0.2715	10	0.87932	D	0	-18.1258	18.8498	0.92224	0.0:0.0:1.0:0.0	.	1051	Q8N2Y8	RUSC2_HUMAN	E	1051	ENSP00000355177:G1051E;ENSP00000393922:G1051E	ENSP00000355177:G1051E	G	+	2	0	RUSC2	35548285	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.359000	0.97115	2.705000	0.92388	0.655000	0.94253	GGG		0.582	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	58	0	0	0	0	8	58				
FBXO10	26267	broad.mit.edu	37	9	37512661	37512661	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:37512661G>C	ENST00000432825.2	-	11	2802	c.2754C>G	c.(2752-2754)ctC>ctG	p.L918L	RP11-613M10.6_ENST00000413915.1_RNA|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.L443L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	918					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGGGACGTCTGAGAGAATTTT	0.582																																						uc004aab.2		NA																	0				lung(5)	5						c.(2752-2754)CTC>CTG		F-box protein 10							74.0	76.0	75.0					9																	37512661		1956	4139	6095	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37512661G>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2754C>G	9.37:g.37512661G>C						FBXO10_uc004aac.2_Silent_p.L934L|FBXO10_uc004aad.2_Silent_p.L468L	p.L918L	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	11	2803	-			918					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.2754C>G	CCDS47966.1																																																																																				0.582	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			18	54	0	0	0	0	18	54				
SHB	6461	broad.mit.edu	37	9	38016078	38016078	+	Silent	SNP	G	G	C	rs539830857		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:38016078G>C	ENST00000377707.3	-	2	1333	c.768C>G	c.(766-768)ctC>ctG	p.L256L	SHB_ENST00000377700.4_Silent_p.L256L|RP11-613M10.9_ENST00000540557.1_Silent_p.L256L	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	256	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTTTGCTCTTGAGATCATTCT	0.522																																						uc004aax.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(766-768)CTC>CTG		Src homology 2 domain containing adaptor protein							170.0	167.0	168.0					9																	38016078		1993	4190	6183	SO:0001819	synonymous_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38016078G>C		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.768C>G	9.37:g.38016078G>C							p.L256L	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	2	1336	-		all_epithelial(88;0.122)	256			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Silent	SNP	ENST00000377707.3	37	c.768C>G	CCDS43806.1																																																																																				0.522	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			6	83	0	0	0	0	6	83				
ABHD17B	51104	broad.mit.edu	37	9	74481894	74481894	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:74481894G>A	ENST00000333421.6	-	4	787	c.676C>T	c.(676-678)Cca>Tca	p.P226S	ABHD17B_ENST00000377041.2_Missense_Mutation_p.P226S	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	226						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ATTAATACTGGAGAGGTTATC	0.393																																						uc004aim.1		NA																	0					0						c.(676-678)CCA>TCA		family with sequence similarity 108, member B1							61.0	60.0	60.0					9																	74481894		2203	4300	6503	SO:0001583	missense	51104					extracellular region	hydrolase activity	g.chr9:74481894G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.676C>T	9.37:g.74481894G>A	ENSP00000330222:p.Pro226Ser					FAM108B1_uc004ail.2_Missense_Mutation_p.P226S	p.P226S	NM_001025780	NP_001020951	Q5VST6	F108B_HUMAN			4	1278	-			226					A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.676C>T	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468661	0.84533	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.74632	-0.86;-0.86	5.78	5.78	0.91487	.	0.096239	0.64402	D	0.000001	D	0.91304	0.7258	H	0.96460	3.825	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.984	D	0.93073	0.6484	10	0.87932	D	0	-10.4417	20.3668	0.98882	0.0:0.0:1.0:0.0	.	226;226	Q5VST6;Q5VST6-2	F108B_HUMAN;.	S	226	ENSP00000366240:P226S;ENSP00000330222:P226S	ENSP00000330222:P226S	P	-	1	0	FAM108B1	73671714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.715000	0.98748	2.894000	0.99253	0.655000	0.94253	CCA		0.393	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		8	39	0	0	0	0	8	39				
NXNL2	158046	broad.mit.edu	37	9	91150602	91150602	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:91150602G>A	ENST00000375854.3	+	1	587	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375855.3_Missense_Mutation_p.E85K	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	85	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)					lung(3)	3						CTTCATGCGCGAGCTGCATGG	0.726																																						uc011ltj.1		NA																	0					0						c.(253-255)GAG>AAG		nucleoredoxin-like 2 isoform 1							20.0	24.0	23.0					9																	91150602		2130	4244	6374	SO:0001583	missense	158046							g.chr9:91150602G>A	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"""chromosome 9 open reading frame 121"""	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.253G>A	9.37:g.91150602G>A	ENSP00000365014:p.Glu85Lys					NXNL2_uc004aqa.2_Missense_Mutation_p.E85K	p.E85K	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			1	587	+			85			Thioredoxin.		B1AMD0|Q8TBG6	Missense_Mutation	SNP	ENST00000375854.3	37	c.253G>A	CCDS55325.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419355	0.62622	.	.	ENSG00000130045	ENST00000375854;ENST00000375855	T;T	0.78003	1.03;-1.14	3.95	3.04	0.35103	Thioredoxin-like fold (2);	0.059173	0.64402	D	0.000005	T	0.73729	0.3624	L	0.41236	1.265	0.38498	D	0.948148	D;D	0.57571	0.98;0.975	P;B	0.53722	0.733;0.38	T	0.69446	-0.5143	10	0.14252	T	0.57	-15.5753	9.8573	0.41092	0.0:0.1681:0.6832:0.1488	.	85;85	Q5VZ03;Q5VZ03-3	NXNL2_HUMAN;.	K	85	ENSP00000365014:E85K;ENSP00000365015:E85K	ENSP00000365014:E85K	E	+	1	0	NXNL2	90340422	1.000000	0.71417	0.947000	0.38551	0.213000	0.24496	4.521000	0.60532	0.832000	0.34804	0.491000	0.48974	GAG		0.726	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283		3	37	0	0	0	0	3	37				
XPA	7507	broad.mit.edu	37	9	100459507	100459507	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:100459507G>A	ENST00000375128.4	-	1	132	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	23	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CGCCCGCACCGAGGCAGGCAG	0.731			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc004axr.3		NA	yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	Mis|N|F|S	"""xeroderma pigmentosum, complementation group A"""			E		skin basal cell|skin squamous cell|melanoma			0				breast(1)	1						c.(67-69)TCG>TTG	NER	xeroderma pigmentosum, complementation group A							9.0	13.0	12.0					9																	100459507		1977	3965	5942	SO:0001583	missense	7507	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459507G>A	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.68C>T	9.37:g.100459507G>A	ENSP00000364270:p.Ser23Leu					XPA_uc004axs.3_RNA	p.S23L	NM_000380	NP_000371	P23025	XPA_HUMAN			1	185	-		Acute lymphoblastic leukemia(62;0.158)	23			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	c.68C>T	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	g	14.86	2.662349	0.47572	.	.	ENSG00000136936	ENST00000375128	T	0.60171	0.21	4.89	4.0	0.46444	.	0.562732	0.17577	N	0.169267	T	0.41442	0.1159	L	0.33485	1.01	0.09310	N	1	P	0.36768	0.569	B	0.24541	0.054	T	0.23762	-1.0179	10	0.41790	T	0.15	.	12.695	0.56999	0.0825:0.0:0.9175:0.0	.	23	P23025	XPA_HUMAN	L	23	ENSP00000364270:S23L	ENSP00000364270:S23L	S	-	2	0	XPA	99499328	0.987000	0.35691	0.022000	0.16811	0.404000	0.30871	4.711000	0.61881	1.216000	0.43427	-0.642000	0.03964	TCG		0.731	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		6	26	0	0	0	0	6	26				
ZNF189	7743	broad.mit.edu	37	9	104170889	104170889	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:104170889G>A	ENST00000339664.2	+	3	968	c.839G>A	c.(838-840)aGa>aAa	p.R280K	ZNF189_ENST00000374861.3_Missense_Mutation_p.R266K|ZNF189_ENST00000259395.4_Missense_Mutation_p.R238K	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	280					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGCATCAAAGAACTCACACT	0.393																																						uc004bbh.1		NA																	0				ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(838-840)AGA>AAA		zinc finger protein 189 isoform 1							168.0	172.0	170.0					9																	104170889		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170889G>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.839G>A	9.37:g.104170889G>A	ENSP00000342019:p.Arg280Lys					ZNF189_uc004bbg.1_Missense_Mutation_p.R238K|ZNF189_uc004bbi.1_Missense_Mutation_p.R266K|ZNF189_uc011lvk.1_Missense_Mutation_p.R265K	p.R280K	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	1115	+		Acute lymphoblastic leukemia(62;0.0559)	280			C2H2-type 5.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.839G>A	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963571	0.53507	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.18338	2.22;2.22;2.22	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.10680	0.0261	N	0.13299	0.325	0.41161	D	0.986094	P;B;P	0.48503	0.911;0.296;0.615	B;B;B	0.38020	0.232;0.188;0.263	T	0.09357	-1.0678	10	0.42905	T	0.14	.	16.1533	0.81636	0.0:0.0:1.0:0.0	.	265;266;280	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	K	266;280;238	ENSP00000363995:R266K;ENSP00000342019:R280K;ENSP00000259395:R238K	ENSP00000259395:R238K	R	+	2	0	ZNF189	103210710	0.217000	0.23597	1.000000	0.80357	0.989000	0.77384	1.128000	0.31369	2.941000	0.99782	0.655000	0.94253	AGA		0.393	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		27	226	0	0	0	0	27	226				
GOLGA2	2801	broad.mit.edu	37	9	131019928	131019928	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:131019928C>T	ENST00000421699.2	-	24	2601	c.2589G>A	c.(2587-2589)gaG>gaA	p.E863E	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Silent_p.E851E	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	863					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCTTCTCCCGGTGCC	0.622																																						uc011maw.1		NA																	0				ovary(1)	1						c.(2587-2589)GAG>GAA		Golgi autoantigen, golgin subfamily a, 2							272.0	202.0	225.0					9																	131019928		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019928C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2589G>A	9.37:g.131019928C>T						GOLGA2_uc010mxw.2_Silent_p.E186E|GOLGA2_uc004buh.2_Intron	p.E863E	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			24	2602	-			863			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2589G>A	CCDS6896.2																																																																																				0.622	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		26	102	0	0	0	0	26	102				
SETX	23064	broad.mit.edu	37	9	135163631	135163631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:135163631C>T	ENST00000224140.5	-	17	6498	c.6316G>A	c.(6316-6318)Gaa>Aaa	p.E2106K	SETX_ENST00000393220.1_Missense_Mutation_p.E2106K|SETX_ENST00000372169.2_Missense_Mutation_p.E2106K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2106					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTGTATTTCCCGTCCACCT	0.428																																						uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(6316-6318)GAA>AAA		senataxin							47.0	47.0	47.0					9																	135163631		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135163631C>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6316G>A	9.37:g.135163631C>T	ENSP00000224140:p.Glu2106Lys					SETX_uc004cbj.2_Missense_Mutation_p.E1725K|SETX_uc010mzt.2_Missense_Mutation_p.E1725K	p.E2106K	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	17	6499	-		Myeloproliferative disorder(178;0.204)	2106			Potential.		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6316G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494322	0.44352	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90788	-2.16;-2.73;-2.26;-1.89	4.98	4.98	0.66077	.	0.376472	0.25442	N	0.030643	D	0.84566	0.5500	N	0.16478	0.41	0.32728	N	0.509333	B;P;P	0.43231	0.008;0.801;0.763	B;B;B	0.43990	0.024;0.438;0.311	D	0.85462	0.1167	10	0.25106	T	0.35	.	14.479	0.67567	0.0:1.0:0.0:0.0	.	2106;2106;2106	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	2106;348;2106;2106	ENSP00000224140:E2106K;ENSP00000409143:E348K;ENSP00000361242:E2106K;ENSP00000376913:E2106K	ENSP00000224140:E2106K	E	-	1	0	SETX	134153452	0.278000	0.24230	0.864000	0.33941	0.984000	0.73092	1.788000	0.38714	2.704000	0.92352	0.650000	0.86243	GAA		0.428	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		10	22	0	0	0	0	10	22				
PTCHD1	139411	broad.mit.edu	37	X	23412249	23412249	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:23412249G>A	ENST00000379361.4	+	3	3474	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	872					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGAGTGTGTAGAAATGGTAGA	0.398																																						uc004dal.3		NA																	0				ovary(4)|kidney(1)|skin(1)	6						c.(2614-2616)GAA>AAA		patched domain containing 1							87.0	83.0	85.0					X																	23412249		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23412249G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2614G>A	X.37:g.23412249G>A	ENSP00000368666:p.Glu872Lys						p.E872K	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	2622	+			872					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2614G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701691	0.68501	.	.	ENSG00000165186	ENST00000379361	D	0.90069	-2.61	4.71	4.71	0.59529	.	0.115150	0.64402	D	0.000018	D	0.90625	0.7060	L	0.29908	0.895	0.48901	D	0.999726	D	0.63880	0.993	D	0.68192	0.956	D	0.90981	0.4827	10	0.44086	T	0.13	.	17.1418	0.86756	0.0:0.0:1.0:0.0	.	872	Q96NR3	PTHD1_HUMAN	K	872	ENSP00000368666:E872K	ENSP00000368666:E872K	E	+	1	0	PTCHD1	23322170	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.169000	0.94788	2.056000	0.61249	0.436000	0.28706	GAA		0.398	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		37	27	0	0	0	0	37	27				
PCDH11X	27328	broad.mit.edu	37	X	91873419	91873419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:91873419C>T	ENST00000373094.1	+	7	4369	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1165L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1167L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1157L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1138L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1138L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1175					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCACAGCCCACCACTGTCA	0.567																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(3523-3525)CCA>CTA		protocadherin 11 X-linked isoform c							165.0	134.0	144.0					X																	91873419		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873419C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3524C>T	X.37:g.91873419C>T	ENSP00000362186:p.Pro1175Leu					PCDH11X_uc004efl.1_Missense_Mutation_p.P1165L|PCDH11X_uc004efo.1_Missense_Mutation_p.P1138L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1167L|PCDH11X_uc004efn.1_Missense_Mutation_p.P1157L	p.P1175L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4369	+			1175			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3524C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753283	0.15778	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.54479	0.6;0.61;0.61;0.57;0.6;0.61	3.75	3.75	0.43078	.	0.350050	0.18368	U	0.143374	T	0.40372	0.1114	L	0.36672	1.1	0.27854	N	0.940653	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.38845	-0.9642	10	0.87932	D	0	.	7.7304	0.28783	0.2499:0.75:0.0:0.0	.	1138;1157;1167;1165;1175	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1175;1165;1138;1157;1167;1175;1138	ENSP00000362186:P1175L;ENSP00000362189:P1165L;ENSP00000362180:P1138L;ENSP00000355105:P1157L;ENSP00000384758:P1167L;ENSP00000298274:P1138L	ENSP00000298274:P1138L	P	+	2	0	PCDH11X	91760075	0.935000	0.31712	0.775000	0.31657	0.194000	0.23727	2.940000	0.49003	1.699000	0.51192	0.370000	0.22315	CCA		0.567	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		16	43	0	0	0	0	16	43				
COL4A5	1287	broad.mit.edu	37	X	107834353	107834353	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:107834353G>A	ENST00000361603.2	+	20	1475	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	COL4A5_ENST00000328300.6_Missense_Mutation_p.E411K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	411	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAAGGTGATGAAGGACCACC	0.547									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1231-1233)GAA>AAA		type IV collagen alpha 5 isoform 2 precursor							74.0	73.0	73.0					X																	107834353		2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834353G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1231G>A	X.37:g.107834353G>A	ENSP00000354505:p.Glu411Lys					COL4A5_uc011mso.1_Missense_Mutation_p.E411K|COL4A5_uc004eob.1_Missense_Mutation_p.E19K	p.E411K	NM_033380	NP_203699	P29400	CO4A5_HUMAN			20	1433	+			411			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1231G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	g	8.586	0.883445	0.17467	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93076	-3.16;-3.16	5.26	2.34	0.29019	.	0.313869	0.29791	N	0.011189	T	0.78886	0.4354	N	0.02985	-0.445	0.29921	N	0.822765	B;B;B	0.27013	0.042;0.166;0.042	B;B;B	0.31946	0.025;0.138;0.025	T	0.72124	-0.4385	10	0.05351	T	0.99	.	6.9813	0.24704	0.1993:0.2273:0.5734:0.0	.	411;19;411	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	K	411	ENSP00000331902:E411K;ENSP00000354505:E411K	ENSP00000331902:E411K	E	+	1	0	COL4A5	107721009	0.953000	0.32496	1.000000	0.80357	0.970000	0.65996	0.670000	0.25157	1.001000	0.39076	0.540000	0.68198	GAA		0.547	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			30	61	0	0	0	0	30	61				
TENM1	10178	broad.mit.edu	37	X	123775674	123775674	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:123775674C>T	ENST00000371130.3	-	11	2107	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	TENM1_ENST00000422452.2_Missense_Mutation_p.D682N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	682	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACTTGGGATCACAGCTGCAT	0.473																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(2044-2046)GAT>AAT		odz, odd Oz/ten-m homolog 1 isoform 3							200.0	170.0	180.0					X																	123775674		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123775674C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2044G>A	X.37:g.123775674C>T	ENSP00000360171:p.Asp682Asn					ODZ1_uc011muj.1_Missense_Mutation_p.D681N|ODZ1_uc010nqy.2_Missense_Mutation_p.D682N	p.D682N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			11	2108	-			682			EGF-like 5.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2044G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476555	0.63737	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03358	3.96;3.96	5.33	5.33	0.75918	EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.133931	0.48767	D	0.000162	T	0.05410	0.0143	L	0.42744	1.35	0.45594	D	0.998534	B;B;B	0.27559	0.039;0.181;0.003	B;B;B	0.20767	0.02;0.031;0.003	T	0.41233	-0.9520	10	0.38643	T	0.18	.	18.143	0.89646	0.0:1.0:0.0:0.0	.	681;682;682	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	682	ENSP00000360171:D682N;ENSP00000403954:D682N	ENSP00000360171:D682N	D	-	1	0	ODZ1	123603355	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	6.042000	0.70996	2.222000	0.72286	0.600000	0.82982	GAT		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		24	90	0	0	0	0	24	90				
TENM1	10178	broad.mit.edu	37	X	123775763	123775763	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:123775763C>A	ENST00000371130.3	-	11	2018	c.1955G>T	c.(1954-1956)gGa>gTa	p.G652V	TENM1_ENST00000422452.2_Missense_Mutation_p.G652V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	652	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACAGTTAACTCCTCCCCAGCC	0.498																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1954-1956)GGA>GTA		odz, odd Oz/ten-m homolog 1 isoform 3							285.0	250.0	262.0					X																	123775763		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123775763C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1955G>T	X.37:g.123775763C>A	ENSP00000360171:p.Gly652Val					ODZ1_uc011muj.1_Missense_Mutation_p.G651V|ODZ1_uc010nqy.2_Missense_Mutation_p.G652V	p.G652V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			11	2019	-			652			EGF-like 4.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1955G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670297	0.88348	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.14516	2.5;2.5	5.33	5.33	0.75918	Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.75596	-0.3263	10	0.87932	D	0	.	18.143	0.89646	0.0:1.0:0.0:0.0	.	651;652;652	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	652	ENSP00000360171:G652V;ENSP00000403954:G652V	ENSP00000360171:G652V	G	-	2	0	ODZ1	123603444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.222000	0.72286	0.600000	0.82982	GGA		0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		48	163	1	0	3.77e-18	4.14e-18	48	163				
ZIC3	7547	broad.mit.edu	37	X	136652134	136652134	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:136652134A>C	ENST00000287538.5	+	3	1859	c.1309A>C	c.(1309-1311)Aac>Cac	p.N437H	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	437					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCTTCTGCAAACAGTAAAGA	0.453																																						uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(1309-1311)AAC>CAC		zinc finger protein of the cerebellum 3							141.0	137.0	138.0					X																	136652134		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136652134A>C	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1309A>C	X.37:g.136652134A>C	ENSP00000287538:p.Asn437His						p.N437H	NM_003413	NP_003404	O60481	ZIC3_HUMAN			3	1814	+	Acute lymphoblastic leukemia(192;0.000127)		437					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1309A>C	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476923	0.44044	.	.	ENSG00000156925	ENST00000287538	T	0.12039	2.72	5.97	5.97	0.96955	.	0.154291	0.64402	D	0.000018	T	0.14141	0.0342	L	0.40543	1.245	0.80722	D	1	P	0.50943	0.94	P	0.44732	0.459	T	0.01652	-1.1303	10	0.62326	D	0.03	.	8.808	0.34950	0.9079:0.0:0.0921:0.0	.	437	O60481	ZIC3_HUMAN	H	437	ENSP00000287538:N437H	ENSP00000287538:N437H	N	+	1	0	ZIC3	136479800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.586000	0.60984	2.009000	0.58944	0.486000	0.48141	AAC		0.453	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			31	109	0	0	0	0	31	109				
GAB3	139716	broad.mit.edu	37	X	153944337	153944337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:153944337G>T	ENST00000369575.3	-	2	371	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	GAB3_ENST00000424127.2_Missense_Mutation_p.Q114K|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	114	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCAGACCTGACTGATGCTG	0.522																																						uc004fmj.1		NA																	0				ovary(1)	1						c.(340-342)CAG>AAG		Gab3 protein isoform 2							171.0	146.0	154.0					X																	153944337		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153944337G>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.340C>A	X.37:g.153944337G>T	ENSP00000358588:p.Gln114Lys					GAB3_uc004fmk.1_Missense_Mutation_p.Q114K|GAB3_uc010nve.1_Missense_Mutation_p.Q114K|GAB3_uc004fml.1_5'UTR	p.Q114K	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			2	388	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		114			PH.		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.340C>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043183	0.75732	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.74209	-0.82;-0.82;-0.82	5.03	4.16	0.48862	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051503	0.85682	D	0.000000	T	0.73845	0.3639	L	0.31804	0.96	0.58432	D	0.999999	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.57911	0.829;0.829;0.829	T	0.71656	-0.4527	10	0.36615	T	0.2	-21.8595	12.2806	0.54760	0.0:0.1681:0.8319:0.0	.	114;114;114	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	K	114	ENSP00000358588:Q114K;ENSP00000358581:Q114K;ENSP00000399588:Q114K	ENSP00000358581:Q114K	Q	-	1	0	GAB3	153597531	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	6.466000	0.73543	0.890000	0.36211	0.523000	0.50628	CAG		0.522	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		106	50	1	0	9.94e-53	1.1e-52	106	50				
COL17A1	1308	broad.mit.edu	37	10	105819448	105819448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:105819448delT	ENST00000353479.5	-	15	1460	c.1170delA	c.(1168-1170)aaafs	p.K390fs	COL17A1_ENST00000393211.3_Frame_Shift_Del_p.K390fs|COL17A1_ENST00000369733.3_Frame_Shift_Del_p.K390fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	390	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTGCTTTTCTTTTTTTAGGG	0.443																																						uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1168-1170)AAAfs		alpha 1 type XVII collagen							175.0	162.0	166.0					10																	105819448		2203	4300	6503	SO:0001589	frameshift_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105819448delT	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1170delA	10.37:g.105819448delT	ENSP00000340937:p.Lys390fs					COL17A1_uc010qqv.1_Frame_Shift_Del_p.K374fs	p.K390fs	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	15	1339	-		Colorectal(252;0.103)|Breast(234;0.122)	390			Cytoplasmic (Potential).|Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	ENST00000353479.5	37	c.1170delA	CCDS7554.1																																																																																				0.443	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		51	73	NA	NA	NA	NA	51	73	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(73-75)AAAfs		CCCTC-binding factor-like protein							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	737	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	445	NA	NA	NA	NA	7	445	---	---	---	---
