#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
HSPG2	3339	broad.mit.edu	37	1	22199894	22199894	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:22199894T>C	ENST00000374695.3	-	30	3846	c.3767A>G	c.(3766-3768)aAc>aGc	p.N1256S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1256	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGCTGGGGTTGCCATAGTA	0.587																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(3766-3768)AAC>AGC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						80.0	85.0	83.0					1																	22199894		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22199894T>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3767A>G	1.37:g.22199894T>C	ENSP00000363827:p.Asn1256Ser					HSPG2_uc009vqd.2_Missense_Mutation_p.N1257S	p.N1256S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	30	3807	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1256			Laminin EGF-like 7.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.3767A>G	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611205	0.66558	.	.	ENSG00000142798	ENST00000374695	T	0.61627	0.09	5.06	5.06	0.68205	EGF-like, laminin (4);	0.000000	0.43416	D	0.000565	T	0.70176	0.3194	M	0.68952	2.095	0.44652	D	0.997632	D	0.63046	0.992	D	0.76071	0.987	T	0.67421	-0.5675	10	0.22109	T	0.4	.	11.2014	0.48743	0.0:0.0:0.0:1.0	.	1256	P98160	PGBM_HUMAN	S	1256	ENSP00000363827:N1256S	ENSP00000363827:N1256S	N	-	2	0	HSPG2	22072481	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.923000	0.63412	1.905000	0.55150	0.334000	0.21626	AAC		0.587	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		17	95	0	0	0	0	17	95				
COL16A1	1307	broad.mit.edu	37	1	32154663	32154663	+	Silent	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:32154663G>T	ENST00000373672.3	-	24	2160	c.1644C>A	c.(1642-1644)atC>atA	p.I548I	COL16A1_ENST00000373668.3_Silent_p.I548I|COL16A1_ENST00000271069.6_Silent_p.I548I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	548	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCTCTCCTTTGATGCCTTGGA	0.592																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(1642-1644)ATC>ATA		alpha 1 type XVI collagen precursor							96.0	102.0	100.0					1																	32154663		2015	4176	6191	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32154663G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1644C>A	1.37:g.32154663G>T						COL16A1_uc001btj.1_Silent_p.I377I|COL16A1_uc001btl.3_Silent_p.I548I	p.I548I	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	24	2009	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	548			Triple-helical region 8 (COL8) with 1 imperfection.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.1644C>A	CCDS41297.1																																																																																				0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		34	72	1	0	3.66e-26	1.31e-25	34	72				
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A	rs201550049	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16087	0.0		0.001	False		,,,				2504	0.0					uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(1909-1911)CGG>CAG		InaD-like							156.0	160.0	158.0					1																	62293185		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62293185G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1910G>A	1.37:g.62293185G>A	ENSP00000360200:p.Arg637Gln					INADL_uc009waf.1_Missense_Mutation_p.R637Q|INADL_uc001daa.2_Missense_Mutation_p.R637Q|INADL_uc001dad.3_Missense_Mutation_p.R334Q|INADL_uc001dac.2_RNA	p.R637Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			16	2024	+			637			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1910G>A	CCDS617.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.516304	0.96402	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.54675	0.56;0.56	5.63	5.63	0.86233	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000012	T	0.73745	0.3626	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.995	T	0.75662	-0.3240	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	637;637;637	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	Q	637	ENSP00000360200:R637Q;ENSP00000326199:R637Q	ENSP00000255202:R637Q	R	+	2	0	INADL	62065773	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	8.202000	0.89737	2.641000	0.89580	0.591000	0.81541	CGG		0.443	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		40	129	0	0	0	0	40	129				
L1TD1	54596	broad.mit.edu	37	1	62672650	62672650	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62672650G>A	ENST00000498273.1	+	3	645	c.350G>A	c.(349-351)gGg>gAg	p.G117E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gggatggtagggaaaatagaa	0.323																																						uc001dae.3		NA																	0				ovary(1)|skin(1)	2						c.(349-351)GGG>GAG		LINE-1 type transposase domain containing 1							68.0	80.0	76.0					1																	62672650		2192	4291	6483	SO:0001583	missense	54596							g.chr1:62672650G>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.350G>A	1.37:g.62672650G>A	ENSP00000419901:p.Gly117Glu						p.G117E	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			3	652	+			117					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.350G>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.105901	0.00356	.	.	ENSG00000240563	ENST00000498273	T	0.07444	3.19	2.21	1.1	0.20463	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45760	-0.9239	9	0.02654	T	1	.	3.5427	0.07818	0.7833:0.0:0.2167:0.0	.	117	Q5T7N2	LITD1_HUMAN	E	117	ENSP00000419901:G117E	ENSP00000419901:G117E	G	+	2	0	L1TD1	62445238	0.362000	0.24980	0.007000	0.13788	0.051000	0.14879	0.748000	0.26305	0.329000	0.23460	0.313000	0.20887	GGG		0.323	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		17	78	0	0	0	0	17	78				
ALG6	29929	broad.mit.edu	37	1	63879798	63879798	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:63879798C>A	ENST00000371108.4	+	10	1188	c.883C>A	c.(883-885)Cac>Aac	p.H295N	ALG6_ENST00000263440.4_Missense_Mutation_p.H297N	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	295					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTGCCACGTCACATCCAATT	0.294																																						uc010oow.1		NA																	0					0						c.(883-885)CAC>AAC		dolichyl pyrophosphate Man9GlcNAc2							100.0	105.0	103.0					1																	63879798		2203	4297	6500	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63879798C>A	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.883C>A	1.37:g.63879798C>A	ENSP00000360149:p.His295Asn					ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_Intron|ALG6_uc010oox.1_Missense_Mutation_p.H94N	p.H295N	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN			10	1188	+			295					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.883C>A	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	C	5.693	0.312363	0.10789	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	D;D	0.83163	-1.69;-1.69	4.34	1.2	0.21068	.	0.340639	0.31358	N	0.007798	T	0.48205	0.1487	N	0.21282	0.65	0.09310	N	1	B;B	0.22909	0.077;0.001	B;B	0.24394	0.053;0.0	T	0.44467	-0.9326	10	0.13853	T	0.58	-2.6843	10.4043	0.44248	0.0:0.3845:0.5367:0.0789	.	94;297	B4DHV8;A2A2G4	.;.	N	295;297;94	ENSP00000360149:H295N;ENSP00000263440:H297N	ENSP00000263440:H297N	H	+	1	0	ALG6	63652386	0.893000	0.30496	0.308000	0.25141	0.903000	0.53119	1.547000	0.36190	0.025000	0.15241	0.655000	0.94253	CAC		0.294	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		18	41	1	0	6.94e-10	2.33e-09	18	41				
ECM1	1893	broad.mit.edu	37	1	150485926	150485926	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:150485926G>C	ENST00000369047.4	+	10	1731	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	ECM1_ENST00000346569.6_Missense_Mutation_p.E411Q|ECM1_ENST00000369049.4_Missense_Mutation_p.E563Q|ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	536					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCACCTCTGAGCCCAAGGA	0.562																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1606-1608)GAG>CAG		extracellular matrix protein 1 isoform 1							38.0	41.0	40.0					1																	150485926		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150485926G>C	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1606G>C	1.37:g.150485926G>C	ENSP00000358043:p.Glu536Gln					ECM1_uc001eut.2_Missense_Mutation_p.E411Q|ECM1_uc001euu.2_Missense_Mutation_p.E565Q|ECM1_uc001euv.2_Missense_Mutation_p.E563Q|ECM1_uc009wlu.2_Missense_Mutation_p.E296Q	p.E536Q	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1805	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		536					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1606G>C	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958507	0.18507	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.78003	-1.14;-1.14;-1.14	4.55	0.243	0.15503	.	1.394870	0.04658	N	0.408292	T	0.47985	0.1475	L	0.47716	1.5	0.09310	N	1	B;B;B	0.20550	0.017;0.041;0.046	B;B;B	0.15870	0.007;0.011;0.014	T	0.17167	-1.0378	10	0.27785	T	0.31	-0.346	4.9222	0.13876	0.1937:0.3352:0.4711:0.0	.	563;411;536	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	Q	563;536;411	ENSP00000358045:E563Q;ENSP00000358043:E536Q;ENSP00000271630:E411Q	ENSP00000271630:E411Q	E	+	1	0	ECM1	148752550	0.968000	0.33430	0.000000	0.03702	0.637000	0.38172	1.715000	0.37971	-0.031000	0.13781	0.563000	0.77884	GAG		0.562	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		4	48	0	0	0	0	4	48				
TRIM46	80128	broad.mit.edu	37	1	155152365	155152365	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:155152365G>A	ENST00000334634.4	+	8	1543	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.G515S|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.G492S|TRIM46_ENST00000368385.4_Missense_Mutation_p.G515S|TRIM46_ENST00000545012.1_Missense_Mutation_p.G389S	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	515	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCGGCTACGGCGAATACAG	0.657																																						uc001fhs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1543-1545)GGC>AGC		tripartite motif-containing 46							30.0	32.0	31.0					1																	155152365		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155152365G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1543G>A	1.37:g.155152365G>A	ENSP00000334657:p.Gly515Ser					RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.G515S|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.G389S|TRIM46_uc001fhu.1_Missense_Mutation_p.G492S|TRIM46_uc009wpg.1_Missense_Mutation_p.G502S|TRIM46_uc001fhv.3_Missense_Mutation_p.G502S|TRIM46_uc001fhw.1_RNA	p.G515S	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1626	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		515			Fibronectin type-III.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.1543G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	6.303	0.423960	0.11928	.	.	ENSG00000163462	ENST00000430513;ENST00000368385;ENST00000545012;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	3.55	3.55	0.40652	Fibronectin, type III (3);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.26919	0.0659	L	0.43152	1.355	0.49483	D	0.999797	P;D;P;D	0.89917	0.772;1.0;0.764;1.0	B;D;B;D	0.91635	0.184;0.997;0.252;0.999	T	0.10683	-1.0619	10	0.06236	T	0.91	.	13.0312	0.58842	0.0:0.0:1.0:0.0	.	515;492;515;515	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	S	473;515;389;515;492;515	ENSP00000357369:G515S;ENSP00000440254:G389S;ENSP00000357367:G515S;ENSP00000357366:G492S;ENSP00000334657:G515S	ENSP00000334657:G515S	G	+	1	0	TRIM46	153418989	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	5.559000	0.67326	2.011000	0.59026	0.462000	0.41574	GGC		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		13	34	0	0	0	0	13	34				
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:181767596G>A	ENST00000367573.2	+	48	6568	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2171K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2079K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1754K|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E2128K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2147K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2141K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2190					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6439-6441)GAG>AAG		calcium channel, voltage-dependent, R type,							59.0	69.0	66.0					1																	181767596		2076	4219	6295	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767596G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6568G>A	1.37:g.181767596G>A	ENSP00000356545:p.Glu2190Lys					CACNA1E_uc009wxs.2_Missense_Mutation_p.E2035K|CACNA1E_uc009wxt.2_Missense_Mutation_p.E1416K	p.E2147K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6604	+			2190			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6439G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	7.650	0.682616	0.14907	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96168	-3.87;-3.87;-3.86;-3.86;-3.93;-3.86;-3.86	5.55	3.66	0.41972	.	1.967340	0.02182	N	0.060562	D	0.93446	0.7909	L	0.29908	0.895	0.41080	D	0.985519	B;B	0.15141	0.012;0.012	B;B	0.10450	0.005;0.005	T	0.69221	-0.5202	10	0.37606	T	0.19	.	15.6951	0.77490	0.0:0.2799:0.72:0.0	.	2128;2147	Q15878-2;Q15878-3	.;.	K	2147;2128;2141;2079;1754;2171;2190	ENSP00000356542:E2147K;ENSP00000434814:E2128K;ENSP00000350183:E2141K;ENSP00000351101:E2079K;ENSP00000356539:E1754K;ENSP00000353222:E2171K;ENSP00000356545:E2190K	ENSP00000350183:E2141K	E	+	1	0	CACNA1E	180034219	0.992000	0.36948	0.962000	0.40283	0.266000	0.26442	2.134000	0.42102	0.687000	0.31509	-0.265000	0.10407	GAG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		23	50	0	0	0	0	23	50				
PROX1	5629	broad.mit.edu	37	1	214171226	214171226	+	Missense_Mutation	SNP	C	C	A	rs201989339		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:214171226C>A	ENST00000366958.4	+	2	1956	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	PROX1_ENST00000261454.4_Missense_Mutation_p.Q450K|PROX1_ENST00000435016.1_Missense_Mutation_p.Q450K|PROX1_ENST00000498508.2_Missense_Mutation_p.Q450K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	450					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCCTCTGACCAGTCTGCCTC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15102	0.0		0.0	False		,,,				2504	0.0					uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1348-1350)CAG>AAG		prospero homeobox 1							69.0	80.0	76.0					1																	214171226		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171226C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1348C>A	1.37:g.214171226C>A	ENSP00000355925:p.Gln450Lys					PROX1_uc001hkg.1_Missense_Mutation_p.Q450K	p.Q450K	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1620	+			450					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1348C>A	CCDS31021.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.035	0.004099	0.07866	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.71	5.71	0.89125	.	0.115594	0.64402	D	0.000011	T	0.41488	0.1161	L	0.48642	1.525	0.80722	D	1	B	0.17465	0.022	B	0.19946	0.027	T	0.14117	-1.0484	10	0.27785	T	0.31	-4.2232	19.8546	0.96752	0.0:1.0:0.0:0.0	.	450	Q92786	PROX1_HUMAN	K	22;450;450;450;450	ENSP00000420283:Q450K;ENSP00000355925:Q450K;ENSP00000400694:Q450K;ENSP00000261454:Q450K	ENSP00000261454:Q450K	Q	+	1	0	PROX1	212237849	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.507000	0.60434	2.697000	0.92050	0.655000	0.94253	CAG		0.642	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		32	71	1	0	6.39e-12	2.19e-11	32	71				
OBSCN	84033	broad.mit.edu	37	1	228437860	228437860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:228437860C>T	ENST00000422127.1	+	14	4272	c.4228C>T	c.(4228-4230)Cag>Tag	p.Q1410*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1410*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q1502*|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1410	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTGGTGCAGCAGGCATG	0.647																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(4228-4230)CAG>TAG		obscurin, cytoskeletal calmodulin and							64.0	74.0	71.0					1																	228437860		2081	4199	6280	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437860C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4228C>T	1.37:g.228437860C>T	ENSP00000409493:p.Gln1410*					OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q1410*	p.Q1410*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			14	4272	+		Prostate(94;0.0405)	1410			Ig-like 14.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.4228C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	40	8.203737	0.98704	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	5.2	2.32	0.28847	.	0.431214	0.23492	N	0.047582	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	4.9056	0.13797	0.3765:0.4378:0.1141:0.0716	.	.	.	.	X	1410	.	ENSP00000284548:Q1410X	Q	+	1	0	OBSCN	226504483	0.956000	0.32656	0.998000	0.56505	0.064000	0.16182	0.850000	0.27737	0.202000	0.20498	-0.868000	0.02995	CAG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		41	92	0	0	0	0	41	92				
CEP170	9859	broad.mit.edu	37	1	243333053	243333053	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:243333053C>T	ENST00000366542.1	-	12	1771	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.G476S|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.G476S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	574						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAAGATGTGCCTTCCTAAAGG	0.383																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1720-1722)GGC>AGC		centrosomal protein 170kDa isoform alpha							69.0	64.0	65.0					1																	243333053		1858	4097	5955	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243333053C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1720G>A	1.37:g.243333053C>T	ENSP00000355500:p.Gly574Ser					CEP170_uc001hzt.2_Missense_Mutation_p.G476S|CEP170_uc001hzu.2_Missense_Mutation_p.G476S	p.G574S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		12	2128	-	all_neural(11;0.101)	all_cancers(173;0.003)	574					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1720G>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864891|2.864891	0.51482|0.51482	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543|ENST00000522895	T;T;T|.	0.44881|.	1.03;0.92;0.91|.	4.66|4.66	2.68|2.68	0.31781|0.31781	.|.	0.414613|.	0.24081|.	N|.	0.041736|.	T|T	0.42494|0.42494	0.1205|0.1205	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;P;B|.	0.34615|.	0.4;0.459;0.013|.	B;B;B|.	0.33960|.	0.173;0.16;0.013|.	T|T	0.10730|0.10730	-1.0617|-1.0617	10|5	0.06625|.	T|.	0.88|.	0.5022|0.5022	7.4935|7.4935	0.27475|0.27475	0.1733:0.7349:0.0:0.0918|0.1733:0.7349:0.0:0.0918	.|.	476;476;574|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	S|K	574;476;476|102	ENSP00000355500:G574S;ENSP00000355502:G476S;ENSP00000355501:G476S|.	ENSP00000355500:G574S|.	G|R	-|-	1|2	0|0	CEP170|CEP170	241399676|241399676	0.806000|0.806000	0.28996|0.28996	0.977000|0.977000	0.42913|0.42913	0.930000|0.930000	0.56654|0.56654	1.185000|1.185000	0.32065|0.32065	0.344000|0.344000	0.23847|0.23847	0.484000|0.484000	0.47621|0.47621	GGC|AGG		0.383	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		6	20	0	0	0	0	6	20				
NLRP3	114548	broad.mit.edu	37	1	247588449	247588449	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:247588449C>T	ENST00000336119.3	+	3	2450	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	NLRP3_ENST00000366496.2_Silent_p.F568F|NLRP3_ENST00000391827.2_Silent_p.F568F|NLRP3_ENST00000366497.2_Silent_p.F568F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.F568F|NLRP3_ENST00000348069.2_Silent_p.F568F	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	568					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGCAAATTCGAAAAGGGGT	0.463																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1702-1704)TTC>TTT		NLR family, pyrin domain containing 3 isoform a							55.0	52.0	53.0					1																	247588449		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588449C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1704C>T	1.37:g.247588449C>T						NLRP3_uc001ics.2_Silent_p.F568F|NLRP3_uc001icu.2_Silent_p.F568F|NLRP3_uc001icw.2_Silent_p.F568F|NLRP3_uc001icv.2_Silent_p.F568F|NLRP3_uc010pyw.1_Silent_p.F566F|NLRP3_uc001ict.1_Silent_p.F566F	p.F568F	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1842	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	568					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.1704C>T	CCDS1632.1																																																																																				0.463	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		16	34	0	0	0	0	16	34				
DRGX	644168	broad.mit.edu	37	10	50594749	50594749	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:50594749C>G	ENST00000374139.2	-	4	400	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DRGX_ENST00000434016.1_Missense_Mutation_p.K135N			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	130					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCAGCGCCTCCTTCTTACTCC	0.642																																						uc010qgq.1		NA																	0					0						c.(403-405)AAG>AAC		dorsal root ganglia homeobox							54.0	62.0	59.0					10																	50594749		1993	4174	6167	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50594749C>G		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.390G>C	10.37:g.50594749C>G	ENSP00000363254:p.Lys130Asn						p.K135N	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			4	405	-			135						Missense_Mutation	SNP	ENST00000374139.2	37	c.405G>C		.	.	.	.	.	.	.	.	.	.	C	12.99	2.104161	0.37145	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91351	-2.83;-2.75	5.29	2.43	0.29744	.	0.000000	0.85682	D	0.000000	D	0.86502	0.5948	L	0.29908	0.895	0.58432	D	0.999998	D	0.57257	0.979	P	0.52554	0.702	T	0.80852	-0.1197	10	0.17369	T	0.5	.	9.206	0.37289	0.0:0.687:0.0:0.313	.	135	C9JW76	.	N	130;135	ENSP00000363254:K130N;ENSP00000401653:K135N	ENSP00000363254:K130N	K	-	3	2	DRGX	50264755	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.687000	0.25407	0.617000	0.30160	0.563000	0.77884	AAG		0.642	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		20	33	0	0	0	0	20	33				
AGAP7P	653268	broad.mit.edu	37	10	51464881	51464881	+	Silent	SNP	G	G	A	rs376370144		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:51464881G>A	ENST00000374095.5	-	7	1700	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		525	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCGCCCCTGGCTGCTCCCTT	0.537																																						uc001jio.2		NA																	0					0						c.(1573-1575)AGC>AGT		ArfGAP with GTPase domain, ankyrin repeat and PH		G		1,4393		0,1,2196	126.0	153.0	144.0		1575		0.0	10		144	0,8594		0,0,4297	no	coding-synonymous	AGAP7	NM_001077685.1		0,1,6493	AA,AG,GG		0.0,0.0228,0.0077		525/664	51464881	1,12987	2197	4297	6494	SO:0001819	synonymous_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51464881G>A																												ENST00000374095.5:c.1575C>T	10.37:g.51464881G>A						PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	p.S525S	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			7	1701	-			525			Arf-GAP.		A6NGH4	Silent	SNP	ENST00000374095.5	37	c.1575C>T	CCDS41524.1																																																																																				0.537	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			6	193	0	0	0	0	6	193				
PRF1	5551	broad.mit.edu	37	10	72358804	72358804	+	Missense_Mutation	SNP	G	G	A	rs28933973		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:72358804G>A	ENST00000441259.1	-	3	833	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PRF1_ENST00000373209.2_Missense_Mutation_p.R225W	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	225	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		R -> W (in FHL2; dbSNP:rs28933973). {ECO:0000269|PubMed:10583959}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCACAGCCCGGATGAAGTGG	0.657			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NA	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	GRCh37	CM992951	PRF1	M	rs28933973	c.(673-675)CGG>TGG		perforin 1 precursor							41.0	42.0	42.0					10																	72358804		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358804G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.673C>T	10.37:g.72358804G>A	ENSP00000398568:p.Arg225Trp					PRF1_uc001jrf.3_Missense_Mutation_p.R225W	p.R225W	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	834	-			225			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.673C>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.926014	0.73327	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.84589	-1.87;-1.87	5.62	2.27	0.28462	Membrane attack complex component/perforin (MACPF) domain (3);	0.562328	0.16918	N	0.194183	D	0.89319	0.6681	M	0.71581	2.175	0.21652	A	0.000391235	D	0.76494	0.999	P	0.59703	0.862	D	0.91456	0.5185	9	0.72032	D	0.01	-26.1299	11.9095	0.52731	0.0:0.0:0.3351:0.6649	rs28933973	225	P14222	PERF_HUMAN	W	225	ENSP00000362305:R225W;ENSP00000398568:R225W	ENSP00000316746:R225W	R	-	1	2	PRF1	72028810	0.113000	0.22115	0.330000	0.25442	0.939000	0.58152	0.261000	0.18442	0.617000	0.30160	0.655000	0.94253	CGG		0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		13	35	0	0	0	0	13	35				
TMEM180	79847	broad.mit.edu	37	10	104229810	104229810	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:104229810C>A	ENST00000238936.4	+	4	466	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.Q77K	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	77						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGTGACCGGCAGTTCCTCAG	0.592																																						uc001kvt.2		NA																	0				ovary(1)	1						c.(229-231)CAG>AAG		transmembrane protein 180							116.0	84.0	95.0					10																	104229810		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104229810C>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.229C>A	10.37:g.104229810C>A	ENSP00000238936:p.Gln77Lys					TMEM180_uc001kvs.2_Missense_Mutation_p.Q77K|TMEM180_uc010qql.1_5'UTR|TMEM180_uc010qqm.1_Missense_Mutation_p.Q77K|TMEM180_uc001kvu.2_Missense_Mutation_p.Q77K	p.Q77K	NM_024789	NP_079065	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	4	448	+		Colorectal(252;0.122)	77					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.229C>A	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173795	0.38413	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.87029	-2.2	4.92	-0.288	0.12855	Major facilitator superfamily domain, general substrate transporter (1);	0.697247	0.14888	N	0.292581	T	0.68550	0.3013	N	0.03115	-0.41	0.09310	N	0.999998	B;B;B	0.19073	0.0;0.0;0.033	B;B;B	0.22753	0.0;0.001;0.041	T	0.59397	-0.7462	10	0.42905	T	0.14	.	6.987	0.24733	0.4761:0.2764:0.2475:0.0	.	77;77;77	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	K	77	ENSP00000238936:Q77K	ENSP00000238936:Q77K	Q	+	1	0	TMEM180	104219800	0.052000	0.20516	0.814000	0.32528	0.986000	0.74619	0.704000	0.25661	0.132000	0.18615	0.491000	0.48974	CAG		0.592	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		20	20	1	0	1.38e-19	4.89e-19	20	20				
CDHR5	53841	broad.mit.edu	37	11	621590	621590	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:621590A>C	ENST00000358353.3	-	6	801	c.479T>G	c.(478-480)cTg>cGg	p.L160R	CDHR5_ENST00000397542.2_Missense_Mutation_p.L160R|CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.L160R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	160	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGTAGAACAGAATGTCGTC	0.647																																						uc001lqj.2		NA																	0					0						c.(478-480)CTG>CGG		mucin and cadherin-like isoform 1							159.0	124.0	136.0					11																	621590		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621590A>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.479T>G	11.37:g.621590A>C	ENSP00000351118:p.Leu160Arg					CDHR5_uc001lqk.2_Missense_Mutation_p.L160R|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.L160R|CDHR5_uc001lql.2_Missense_Mutation_p.L160R|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.L129R	p.L160R	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			5	584	-			160			Cadherin 2.|Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.479T>G	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	a	10.39	1.336646	0.24253	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570;ENST00000526077;ENST00000534311	T;T;T;T;T	0.60672	1.02;1.02;1.02;0.17;0.25	3.91	3.91	0.45181	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.75361	0.3839	M	0.83223	2.63	0.27422	N	0.954259	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.98;0.995;0.999;0.999	T	0.66093	-0.6009	9	0.87932	D	0	-18.2095	9.3055	0.37872	1.0:0.0:0.0:0.0	.	160;160;160;160	Q58EZ6;Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;.;CDHR5_HUMAN	R	160;160;160;160;129;137	ENSP00000380676:L160R;ENSP00000351118:L160R;ENSP00000345726:L160R;ENSP00000435082:L129R;ENSP00000436295:L137R	ENSP00000326527:L160R	L	-	2	0	CDHR5	611590	0.144000	0.22641	0.714000	0.30535	0.061000	0.15899	3.418000	0.52721	1.789000	0.52484	0.398000	0.26397	CTG		0.647	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		23	73	0	0	0	0	23	73				
CPT1A	1374	broad.mit.edu	37	11	68562283	68562283	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:68562283C>T	ENST00000265641.5	-	8	1022	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CPT1A_ENST00000376618.2_Missense_Mutation_p.E290K|CPT1A_ENST00000540367.1_Missense_Mutation_p.E290K|CPT1A_ENST00000539743.1_Missense_Mutation_p.E290K|CPT1A_ENST00000538994.1_Missense_Mutation_p.E42K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	290					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTTTGATTTCCTCCCGGTCC	0.408																																						uc001oog.3		NA																	0				skin(2)	2						c.(868-870)GAA>AAA		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						110.0	108.0	109.0					11																	68562283		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68562283C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.868G>A	11.37:g.68562283C>T	ENSP00000265641:p.Glu290Lys					CPT1A_uc001oof.3_Missense_Mutation_p.E290K|CPT1A_uc009ysj.2_Missense_Mutation_p.E290K	p.E290K	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		8	1038	-	Esophageal squamous(3;3.28e-14)		290			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.868G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750012	0.49257	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.15	4.23	0.50019	.	0.116593	0.64402	N	0.000020	D	0.83613	0.5292	L	0.43598	1.365	0.52501	D	0.999958	B;B;B	0.23650	0.011;0.012;0.089	B;B;B	0.26770	0.03;0.042;0.073	T	0.77446	-0.2585	10	0.27082	T	0.32	.	10.3391	0.43866	0.0:0.79:0.1351:0.0748	.	290;290;290	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	K	290	ENSP00000439084:E290K;ENSP00000365803:E290K;ENSP00000265641:E290K;ENSP00000446108:E290K	ENSP00000265641:E290K	E	-	1	0	CPT1A	68318859	1.000000	0.71417	0.965000	0.40720	0.724000	0.41520	3.905000	0.56333	1.135000	0.42183	0.655000	0.94253	GAA		0.408	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		32	66	0	0	0	0	32	66				
ABCG4	64137	broad.mit.edu	37	11	119029297	119029297	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119029297G>A	ENST00000449422.2	+	11	1386	c.1198G>A	c.(1198-1200)Gtg>Atg	p.V400M	ABCG4_ENST00000307417.3_Missense_Mutation_p.V400M|AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Missense_Mutation_p.V400M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	400	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGTCCCACGTGGTTATTGG	0.562																																						uc001pvs.2		NA																	0				ovary(2)	2						c.(1198-1200)GTG>ATG		ATP-binding cassette, subfamily G, member 4							227.0	203.0	211.0					11																	119029297		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029297G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1198G>A	11.37:g.119029297G>A	ENSP00000406874:p.Val400Met					ABCG4_uc009zar.2_Missense_Mutation_p.V400M	p.V400M	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	11	1534	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	400			ABC transmembrane type-2.|Helical; Name=1; (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1198G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763925	0.49574	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73258	-0.73;-0.73;-0.73	5.63	4.71	0.59529	ABC-2 type transporter (1);	0.357523	0.31279	N	0.007931	T	0.72653	0.3487	M	0.71036	2.16	0.22911	N	0.998579	D	0.56035	0.974	P	0.51170	0.661	T	0.68492	-0.5394	10	0.72032	D	0.01	-19.5814	5.274	0.15639	0.2072:0.1627:0.63:0.0	.	400	Q9H172	ABCG4_HUMAN	M	400	ENSP00000304111:V400M;ENSP00000406874:V400M;ENSP00000434318:V400M	ENSP00000304111:V400M	V	+	1	0	ABCG4	118534507	0.982000	0.34865	0.824000	0.32777	0.417000	0.31264	2.056000	0.41355	1.359000	0.45940	0.655000	0.94253	GTG		0.562	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		57	156	0	0	0	0	57	156				
CBL	867	broad.mit.edu	37	11	119169109	119169109	+	Missense_Mutation	SNP	G	G	A	rs373587039		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119169109G>A	ENST00000264033.4	+	15	2669	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	765	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACTGGTCCCGAGGAGTCAGA	0.507			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NA		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					0				haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(2293-2295)GAG>AAG		Cas-Br-M (murine) ecotropic retroviral		G	LYS/GLU	1,4397	2.1+/-5.4	0,1,2198	91.0	84.0	87.0		2293	5.6	0.9	11		87	0,8590		0,0,4295	no	missense	CBL	NM_005188.2	56	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	765/907	119169109	1,12987	2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119169109G>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2293G>A	11.37:g.119169109G>A	ENSP00000264033:p.Glu765Lys						p.E765K	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	15	2431	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	765			Interaction with CD2AP.|Asp/Glu-rich (acidic).		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.2293G>A	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584692	0.65992	2.27E-4	0.0	ENSG00000110395	ENST00000264033	T	0.78126	-1.15	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	L	0.34521	1.04	0.80722	D	1	D	0.56521	0.976	B	0.41299	0.353	T	0.67158	-0.5741	10	0.06365	T	0.9	-43.2069	19.6034	0.95572	0.0:0.0:1.0:0.0	.	765	P22681	CBL_HUMAN	K	765	ENSP00000264033:E765K	ENSP00000264033:E765K	E	+	1	0	CBL	118674319	1.000000	0.71417	0.920000	0.36463	0.679000	0.39708	6.181000	0.71988	2.623000	0.88846	0.650000	0.86243	GAG		0.507	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		14	64	0	0	0	0	14	64				
OR6T1	219874	broad.mit.edu	37	11	123813951	123813951	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123813951C>A	ENST00000321252.2	-	1	629	c.595G>T	c.(595-597)Gct>Tct	p.A199S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A199S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCATGAAAGCCACCAGTTTC	0.547																																						uc010sab.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(595-597)GCT>TCT		olfactory receptor, family 6, subfamily T,							76.0	69.0	71.0					11																	123813951		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813951C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.595G>T	11.37:g.123813951C>A	ENSP00000325203:p.Ala199Ser						p.A199S	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	595	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	199			Helical; Name=5; (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.595G>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.188305	0.00305	.	.	ENSG00000181499	ENST00000321252	T	0.00091	8.74	3.7	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.28400	0.21	B	0.33960	0.173	T	0.01863	-1.1258	9	0.07990	T	0.79	-3.8651	10.0838	0.42406	0.0:0.8:0.0:0.2	.	199	Q8NGN1	OR6T1_HUMAN	S	199	ENSP00000325203:A199S	ENSP00000325203:A199S	A	-	1	0	OR6T1	123319161	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	-0.735000	0.04888	-0.033000	0.13736	-1.119000	0.02030	GCT		0.547	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		23	45	1	0	2.22e-12	7.63e-12	23	45				
VWA5A	4013	broad.mit.edu	37	11	123993788	123993788	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123993788C>T	ENST00000456829.2	+	8	1133	c.882C>T	c.(880-882)agC>agT	p.S294S	VWA5A_ENST00000360334.4_Silent_p.S294S|VWA5A_ENST00000392748.1_Silent_p.S294S|VWA5A_ENST00000392744.4_Silent_p.S310S|VWA5A_ENST00000449321.1_Silent_p.S294S|VWA5A_ENST00000361352.5_Silent_p.S294S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	294	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTATGCAGAGCCCCATGAGTA	0.463																																						uc001pzu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(880-882)AGC>AGT		BCSC-1 isoform 1							77.0	68.0	71.0					11																	123993788		2201	4299	6500	SO:0001819	synonymous_variant	4013							g.chr11:123993788C>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.882C>T	11.37:g.123993788C>T						VWA5A_uc001pzr.2_Silent_p.S294S|VWA5A_uc001pzs.2_Silent_p.S294S|VWA5A_uc010sae.1_Silent_p.S310S|VWA5A_uc001pzt.2_Silent_p.S294S	p.S294S	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			8	1091	+			294			VWFA.		Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	c.882C>T	CCDS8444.1																																																																																				0.463	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		7	21	0	0	0	0	7	21				
SYT10	341359	broad.mit.edu	37	12	33559823	33559823	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:33559823T>C	ENST00000228567.3	-	3	1274	c.978A>G	c.(976-978)agA>agG	p.R326R	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Silent_p.R145R|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	326	C2 1. {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)					TCATGTCATGTCTAGAAAATC	0.368																																						uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(976-978)AGA>AGG		synaptotagmin X							112.0	112.0	112.0					12																	33559823		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33559823T>C	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.978A>G	12.37:g.33559823T>C						SYT10_uc009zju.1_Silent_p.R136R	p.R326R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			3	1275	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		326			Cytoplasmic (Potential).|C2 1.		Q495U2	Silent	SNP	ENST00000228567.3	37	c.978A>G	CCDS8732.1																																																																																				0.368	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		19	30	0	0	0	0	19	30				
SCAF11	9169	broad.mit.edu	37	12	46326990	46326990	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:46326990T>C	ENST00000369367.3	-	9	891	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	SCAF11_ENST00000549162.1_Missense_Mutation_p.I28V|SCAF11_ENST00000419565.2_Missense_Mutation_p.I220V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	220					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATGCACTGATTTCACTGGCT	0.308																																						uc001rox.2		NA																	0					0						c.(658-660)ATC>GTC		splicing factor, arginine/serine-rich 2,							93.0	88.0	89.0					12																	46326990		1816	4070	5886	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46326990T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.658A>G	12.37:g.46326990T>C	ENSP00000358374:p.Ile220Val					SFRS2IP_uc001roy.1_Missense_Mutation_p.I294V	p.I220V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	9	945	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	220					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.658A>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360726	0.41801	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.42513	0.97;1.42;0.97;0.97	5.95	4.8	0.61643	.	0.182958	0.25789	U	0.028282	T	0.28134	0.0694	L	0.32530	0.975	0.25468	N	0.987852	B;B	0.31435	0.323;0.049	B;B	0.26770	0.073;0.023	T	0.13764	-1.0497	10	0.19590	T	0.45	-1.0057	9.823	0.40894	0.0:0.1416:0.0:0.8584	.	28;220	F8VXG7;Q99590	.;SCAFB_HUMAN	V	220;28;220;160	ENSP00000358374:I220V;ENSP00000448864:I28V;ENSP00000413036:I220V;ENSP00000446746:I160V	ENSP00000358374:I220V	I	-	1	0	SCAF11	44613257	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.578000	0.46051	1.069000	0.40788	0.460000	0.39030	ATC		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		12	42	0	0	0	0	12	42				
ASB8	140461	broad.mit.edu	37	12	48543326	48543326	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:48543326C>T	ENST00000317697.3	-	4	859	c.690G>A	c.(688-690)gtG>gtA	p.V230V	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Silent_p.V230V|ASB8_ENST00000536953.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	230					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGTCTCTGGCCACCTCTCGTG	0.532																																						uc001rrh.2		NA																	0				kidney(1)	1						c.(688-690)GTG>GTA		ankyrin repeat and SOCS box-containing 8							78.0	78.0	78.0					12																	48543326		2203	4300	6503	SO:0001819	synonymous_variant	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543326C>T	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.690G>A	12.37:g.48543326C>T						ASB8_uc010slr.1_Silent_p.V226V	p.V230V	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			4	859	-			230					A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.690G>A	CCDS8761.1																																																																																				0.532	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			19	44	0	0	0	0	19	44				
ACACB	32	broad.mit.edu	37	12	109634899	109634899	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:109634899G>A	ENST00000338432.7	+	17	2687	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	ACACB_ENST00000377854.5_Silent_p.G856G|ACACB_ENST00000377848.3_Silent_p.G856G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	856					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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATGATGGGGGGCTCCTGCTCT	0.587																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2566-2568)GGG>GGA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						70.0	60.0	63.0					12																	109634899		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109634899G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2568G>A	12.37:g.109634899G>A						ACACB_uc001toc.2_Silent_p.G856G	p.G856G	NM_001093	NP_001084	O00763	ACACB_HUMAN			17	2687	+			856					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2568G>A	CCDS31898.1																																																																																				0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		20	31	0	0	0	0	20	31				
RIMBP2	23504	broad.mit.edu	37	12	130912862	130912862	+	Silent	SNP	G	G	A	rs200430584		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:130912862G>A	ENST00000261655.4	-	12	2386	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	741					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTGGTACTCGTCTCCATGGC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17782	0.0		0.0	False		,,,				2504	0.0					uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2221-2223)GAC>GAT		RIM-binding protein 2							69.0	62.0	64.0					12																	130912862		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130912862G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2223C>T	12.37:g.130912862G>A							p.D741D	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2387	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	741					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2223C>T	CCDS31925.1																																																																																				0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		28	54	0	0	0	0	28	54				
FREM2	341640	broad.mit.edu	37	13	39265021	39265021	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:39265021C>T	ENST00000280481.7	+	1	3756	c.3540C>T	c.(3538-3540)ccC>ccT	p.P1180P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1180					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTCTTCCCCATTGTAATCA	0.423																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3538-3540)CCC>CCT		FRAS1-related extracellular matrix protein 2							177.0	173.0	174.0					13																	39265021		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265021C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3540C>T	13.37:g.39265021C>T							p.P1180P	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3849	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1180			CSPG 8.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.3540C>T	CCDS31960.1																																																																																				0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		67	103	0	0	0	0	67	103				
PCDH20	64881	broad.mit.edu	37	13	61986231	61986231	+	Silent	SNP	G	G	A	rs535309463		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:61986231G>A	ENST00000409186.1	-	5	4106	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	PCDH20_ENST00000409204.4_Silent_p.D667D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	667	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCGTCCAGCGTCAGCATCTG	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		21303	0.0		0.001	False		,,,				2504	0.0					uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1999-2001)GAC>GAT		protocadherin 20							94.0	92.0	93.0					13																	61986231		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986231G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2001C>T	13.37:g.61986231G>A						PCDH20_uc010thj.1_Silent_p.D667D	p.D667D	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2365	-		Breast(118;0.195)|Prostate(109;0.229)	640			Cadherin 5.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2001C>T	CCDS9442.2																																																																																				0.448	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		29	49	0	0	0	0	29	49				
KLHL1	57626	broad.mit.edu	37	13	70456525	70456525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:70456525C>A	ENST00000377844.4	-	5	1876	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E180*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	373					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)	p.E373*(1)		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)		AAGATGGTTTCTTCATCAGGA	0.418																																						uc001vip.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(1117-1119)GAA>TAA		kelch-like 1 protein							157.0	129.0	138.0					13																	70456525		2203	4300	6503	SO:0001587	stop_gained	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456525C>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.1117G>T	13.37:g.70456525C>A	ENSP00000367075:p.Glu373*					KLHL1_uc010thm.1_Nonsense_Mutation_p.E312*	p.E373*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1911	-		Breast(118;0.000162)	373					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	c.1117G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	c	40	8.247479	0.98724	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	4.89	4.05	0.47172	.	0.087185	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.7009	0.62608	0.0:0.9244:0.0:0.0756	.	.	.	.	X	373;180	.	ENSP00000367075:E373X	E	-	1	0	KLHL1	69354526	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.058000	0.71126	1.195000	0.43115	-0.185000	0.12909	GAA		0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		9	43	1	0	0.000274275	0.000849994	9	43				
TPPP2	122664	broad.mit.edu	37	14	21500154	21500154	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:21500154C>A	ENST00000321760.6	+	4	579	c.431C>A	c.(430-432)gCg>gAg	p.A144E	TPPP2_ENST00000530140.2_Missense_Mutation_p.A144E|AL161668.5_ENST00000533984.1_lincRNA|RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	144						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGGGCATTGCGGGACGGGAA	0.537																																						uc001vzh.2		NA																	0					0						c.(430-432)GCG>GAG		tubulin polymerization-promoting protein family							192.0	144.0	160.0					14																	21500154		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21500154C>A	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.431C>A	14.37:g.21500154C>A	ENSP00000317595:p.Ala144Glu					NDRG2_uc010tll.1_Intron	p.A144E	NM_173846	NP_776245	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	4	619	+	all_cancers(95;0.000759)		144					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.431C>A	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	C	3.640	-0.073721	0.07184	.	.	ENSG00000179636	ENST00000321760;ENST00000530140	T;T	0.46451	0.87;0.87	4.71	3.72	0.42706	.	0.264447	0.35708	N	0.003029	T	0.25791	0.0628	N	0.25825	0.765	0.09310	N	0.999999	B	0.09022	0.002	B	0.14023	0.01	T	0.14783	-1.0460	10	0.20046	T	0.44	-2.7831	7.3246	0.26547	0.2583:0.5808:0.161:0.0	.	144	P59282	TPPP2_HUMAN	E	144	ENSP00000317595:A144E;ENSP00000435356:A144E	ENSP00000317595:A144E	A	+	2	0	TPPP2	20569994	0.008000	0.16893	0.017000	0.16124	0.273000	0.26683	0.181000	0.16880	1.101000	0.41535	0.655000	0.94253	GCG		0.537	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		18	45	1	0	1.34e-09	4.44e-09	18	45				
AP5M1	55745	broad.mit.edu	37	14	57741500	57741500	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:57741500G>A	ENST00000261558.3	+	2	1019	c.613G>A	c.(613-615)Gga>Aga	p.G205R	AP5M1_ENST00000431972.2_Missense_Mutation_p.G219R	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	205					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GACGTACAAAGGAAAACCACA	0.373																																						uc001xcv.2		NA																	0				ovary(1)	1						c.(613-615)GGA>AGA		Mu-2 related death-inducing protein							79.0	86.0	84.0					14																	57741500		2202	4299	6501	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741500G>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.613G>A	14.37:g.57741500G>A	ENSP00000261558:p.Gly205Arg					MUDENG_uc001xcu.3_Missense_Mutation_p.G205R|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.G102R	p.G205R	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			2	1040	+			205			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.613G>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868671	0.91587	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.20069	2.1;2.1	5.78	5.78	0.91487	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.29610	-1.0006	10	0.22109	T	0.4	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	205;205	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	R	205;219	ENSP00000261558:G205R;ENSP00000390531:G219R	ENSP00000261558:G205R	G	+	1	0	MUDENG	56811253	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.355000	0.97087	2.894000	0.99253	0.591000	0.81541	GGA		0.373	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		13	37	0	0	0	0	13	37				
TRIP11	9321	broad.mit.edu	37	14	92470836	92470836	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:92470836A>C	ENST00000267622.4	-	11	3857	c.3484T>G	c.(3484-3486)Tta>Gta	p.L1162V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1162					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATACGTGATAAATTCTGAATA	0.343			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3484-3486)TTA>GTA		thyroid hormone receptor interactor 11							63.0	57.0	59.0					14																	92470836		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470836A>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3484T>G	14.37:g.92470836A>C	ENSP00000267622:p.Leu1162Val					TRIP11_uc010auf.1_Missense_Mutation_p.L898V	p.L1162V	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4272	-			1162			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3484T>G	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.688|9.688	1.151078|1.151078	0.21371|0.21371	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.18502	.|2.21	5.26|5.26	1.7|1.7	0.24286|0.24286	.|.	.|0.081415	.|0.48767	.|D	.|0.000172	T|T	0.25938|0.25938	0.0632|0.0632	L|L	0.32530|0.32530	0.975|0.975	0.36239|0.36239	D|D	0.853174|0.853174	.|D;D	.|0.89917	.|0.994;1.0	.|P;D	.|0.80764	.|0.894;0.994	T|T	0.08432|0.08432	-1.0722|-1.0722	5|10	.|0.54805	.|T	.|0.06	.|.	9.0703|9.0703	0.36488|0.36488	0.7105:0.0:0.2895:0.0|0.7105:0.0:0.2895:0.0	.|.	.|898;1162	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	C|V	877|1162;898	.|ENSP00000267622:L1162V	.|ENSP00000267622:L1162V	F|L	-|-	2|1	0|2	TRIP11|TRIP11	91540589|91540589	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.113000|0.113000	0.19764|0.19764	2.363000|2.363000	0.44178|0.44178	0.049000|0.049000	0.15920|0.15920	0.455000|0.455000	0.32223|0.32223	TTT|TTA		0.343	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			20	23	0	0	0	0	20	23				
PPP1R13B	23368	broad.mit.edu	37	14	104206647	104206647	+	Silent	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:104206647G>C	ENST00000202556.9	-	12	2388	c.2106C>G	c.(2104-2106)ccC>ccG	p.P702P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.P121P	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	702	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCAGGGGCCGGGGCGCGTTGG	0.667																																						uc001yof.1		NA																	0				ovary(1)	1						c.(2104-2106)CCC>CCG		apoptosis-stimulating protein of p53, 1							45.0	55.0	52.0					14																	104206647		2083	4190	6273	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206647G>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2106C>G	14.37:g.104206647G>C						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P569P	p.P702P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2389	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	702			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2106C>G	CCDS41997.1																																																																																				0.667	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		40	92	0	0	0	0	40	92				
HERC2	8924	broad.mit.edu	37	15	28483835	28483835	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:28483835C>T	ENST00000261609.7	-	24	3769	c.3661G>A	c.(3661-3663)Gat>Aat	p.D1221N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCTCCATCTTTATTATGG	0.378																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(3661-3663)GAT>AAT		hect domain and RLD 2							68.0	64.0	65.0					15																	28483835		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28483835C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3661G>A	15.37:g.28483835C>T	ENSP00000261609:p.Asp1221Asn						p.D1221N	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	24	3767	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1221			Cytochrome b5 heme-binding.			Missense_Mutation	SNP	ENST00000261609.7	37	c.3661G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572744	0.96553	.	.	ENSG00000128731	ENST00000261609	T	0.80994	-1.44	5.7	5.7	0.88788	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87285	0.2295	10	0.87932	D	0	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	1221	O95714	HERC2_HUMAN	N	1221	ENSP00000261609:D1221N	ENSP00000261609:D1221N	D	-	1	0	HERC2	26157430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.704000	0.92352	0.650000	0.86243	GAT		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		22	36	0	0	0	0	22	36				
SPTBN5	51332	broad.mit.edu	37	15	42150939	42150939	+	Missense_Mutation	SNP	G	G	A	rs372953121		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42150939G>A	ENST00000320955.6	-	49	8314	c.8087C>T	c.(8086-8088)gCg>gTg	p.A2696V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2696					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCAGCCACGCAGCCACCTG	0.622																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(7981-7983)GCG>GTG		spectrin, beta, non-erythrocytic 5		G	VAL/ALA	0,4256		0,0,2128	22.0	25.0	24.0		7982	-5.9	0.0	15		24	1,8451		0,1,4225	no	missense	SPTBN5	NM_016642.2	64	0,1,6353	AA,AG,GG		0.0118,0.0,0.0079	benign	2661/3640	42150939	1,12707	2128	4226	6354	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42150939G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8087C>T	15.37:g.42150939G>A	ENSP00000317790:p.Ala2696Val						p.A2661V	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	49	8315	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2696			Spectrin 24.			Missense_Mutation	SNP	ENST00000320955.6	37	c.7982C>T		.	.	.	.	.	.	.	.	.	.	.	12.33	1.904967	0.33628	0.0	1.18E-4	ENSG00000137877	ENST00000320955	T	0.52983	0.64	4.7	-5.87	0.02297	.	2.128150	0.02461	N	0.086613	T	0.40862	0.1134	L	0.41961	1.31	0.09310	N	1	B	0.26120	0.142	B	0.21546	0.035	T	0.36407	-0.9749	10	0.42905	T	0.14	.	13.5294	0.61613	0.5079:0.0:0.4921:0.0	.	2696	Q9NRC6	SPTN5_HUMAN	V	2696	ENSP00000317790:A2696V	ENSP00000317790:A2696V	A	-	2	0	SPTBN5	39938231	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.570000	0.23653	-1.279000	0.02405	-1.232000	0.01568	GCG		0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	7	0	0	0	0	6	7				
PLA2G4F	255189	broad.mit.edu	37	15	42437772	42437772	+	Splice_Site	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42437772C>A	ENST00000382396.4	-	16	1867		c.e16+1		PLA2G4F_ENST00000397272.3_Splice_Site			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF						arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTACCCTCACCTGTGATATT	0.602																																						uc001zoz.2		NA																	0				ovary(4)	4						c.e16+1		phospholipase A2, group IVF							93.0	99.0	97.0					15																	42437772		2203	4299	6502	SO:0001630	splice_region_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42437772C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1780+1G>T	15.37:g.42437772C>A						PLA2G4F_uc010bcq.2_Intron|PLA2G4F_uc001zoy.2_Splice_Site_p.D226_splice|PLA2G4F_uc010bcr.2_Splice_Site_p.D345_splice|PLA2G4F_uc001zpa.2_Splice_Site_p.D345_splice|PLA2G4F_uc010bcs.2_Splice_Site_p.D381_splice	p.D594_splice	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	16	1843	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)						Q6ZMC8	Splice_Site	SNP	ENST00000382396.4	37	c.1780_splice	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995265	0.54147	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4581	0.90728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4F	40225064	1.000000	0.71417	0.989000	0.46669	0.195000	0.23768	5.456000	0.66665	2.442000	0.82660	0.484000	0.47621	.		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	Intron	17	102	1	0	5.35e-07	1.73e-06	17	102				
PTPN9	5780	broad.mit.edu	37	15	75798125	75798125	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:75798125T>C	ENST00000306726.2	-	7	1371	c.859A>G	c.(859-861)Acc>Gcc	p.T287A	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	287					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTGGATGGTCATAGCATGG	0.502																																						uc002bal.2		NA																	0				lung(1)|skin(1)	2						c.(859-861)ACC>GCC		protein tyrosine phosphatase, non-receptor type							156.0	136.0	143.0					15																	75798125		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798125T>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.859A>G	15.37:g.75798125T>C	ENSP00000303554:p.Thr287Ala						p.T287A	NM_002833	NP_002824	P43378	PTN9_HUMAN			7	1367	-			287					Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.859A>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589974	0.46214	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.63096	-0.02	5.65	4.5	0.54988	.	0.208574	0.50627	D	0.000114	T	0.56140	0.1965	L	0.57536	1.79	0.42244	D	0.991949	B	0.21147	0.052	B	0.16289	0.015	T	0.50980	-0.8763	10	0.27082	T	0.32	.	12.0574	0.53544	0.0:0.0:0.1441:0.8558	.	287	P43378	PTN9_HUMAN	A	287;277	ENSP00000303554:T287A	ENSP00000303554:T287A	T	-	1	0	PTPN9	73585180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.762000	0.68809	0.936000	0.37367	0.533000	0.62120	ACC		0.502	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			3	65	0	0	0	0	3	65				
RASGRF1	5923	broad.mit.edu	37	15	79317766	79317766	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:79317766G>A	ENST00000419573.3	-	10	1706	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R478C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	478	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACCCCAGGCGCCCCCTGGTG	0.557																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(1432-1434)CGC>TGC		Ras protein-specific guanine							65.0	66.0	66.0					15																	79317766		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79317766G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1432C>T	15.37:g.79317766G>A	ENSP00000405963:p.Arg478Cys					RASGRF1_uc002bep.2_Missense_Mutation_p.R478C|RASGRF1_uc010blm.1_Missense_Mutation_p.R400C|RASGRF1_uc002ber.3_Missense_Mutation_p.R478C	p.R478C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			10	1807	-			478			PH 2.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1432C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510182	0.85282	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.62788	-0.0	4.36	4.36	0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.79251	0.4414	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.985;0.985;0.993	T	0.82579	-0.0387	10	0.72032	D	0.01	.	14.4585	0.67433	0.0:0.0:1.0:0.0	.	478;478;478;478	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	C	478	ENSP00000405963:R478C	ENSP00000378224:R478C	R	-	1	0	RASGRF1	77104821	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.493000	0.81493	2.241000	0.73720	0.585000	0.79938	CGC		0.557	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		25	43	0	0	0	0	25	43				
AEN	64782	broad.mit.edu	37	15	89169644	89169644	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:89169644C>T	ENST00000332810.3	+	2	355	c.204C>T	c.(202-204)ttC>ttT	p.F68F	AEN_ENST00000379231.3_Silent_p.F68F	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	68					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCACCCCTTTCGGGGCAGCGA	0.652																																						uc002bmt.2		NA																	0					0						c.(202-204)TTC>TTT		interferon stimulated exonuclease gene							25.0	24.0	24.0					15																	89169644		2199	4299	6498	SO:0001819	synonymous_variant	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89169644C>T	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.204C>T	15.37:g.89169644C>T						AEN_uc010bnl.2_Silent_p.F68F|AEN_uc010bnm.1_Silent_p.F68F	p.F68F	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			2	355	+			68					C9J571|Q9BSA5|Q9H9X7	Silent	SNP	ENST00000332810.3	37	c.204C>T	CCDS10344.1																																																																																				0.652	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		7	18	0	0	0	0	7	18				
CHD2	1106	broad.mit.edu	37	15	93563349	93563349	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:93563349G>T	ENST00000394196.4	+	38	6082	c.5014G>T	c.(5014-5016)Gac>Tac	p.D1672Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1672Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1672					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGGTACAAGGACCACCATTA	0.527																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(5014-5016)GAC>TAC		chromodomain helicase DNA binding protein 2							141.0	107.0	119.0					15																	93563349		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93563349G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5014G>T	15.37:g.93563349G>T	ENSP00000377747:p.Asp1672Tyr					CHD2_uc002bso.1_Missense_Mutation_p.D1672Y	p.D1672Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	5589	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1672					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5014G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011612	0.93346	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.91894	-2.91;-2.93	5.61	5.61	0.85477	.	0.000000	0.32563	U	0.005930	D	0.93363	0.7884	L	0.34521	1.04	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.60473	0.754;0.875	D	0.94044	0.7312	10	0.87932	D	0	-22.7342	19.6303	0.95699	0.0:0.0:1.0:0.0	.	1672;1672	O14647;O14647-2	CHD2_HUMAN;.	Y	1672	ENSP00000377747:D1672Y;ENSP00000451366:D1672Y	ENSP00000377747:D1672Y	D	+	1	0	CHD2	91364353	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.148000	0.94652	2.641000	0.89580	0.655000	0.94253	GAC		0.527	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		11	27	1	0	1.05e-09	3.51e-09	11	27				
NKD1	85407	broad.mit.edu	37	16	50667423	50667423	+	Missense_Mutation	SNP	G	G	A	rs184258567	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:50667423G>A	ENST00000268459.3	+	10	1368	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	382					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTCCCCCTCCGCCCACCTGGC	0.716													g|||	4	0.000798722	0.0	0.0029	5008	,	,		10424	0.001		0.001	False		,,,				2504	0.0					uc002egg.1		NA																	0					0						c.(1144-1146)GCC>ACC		naked cuticle homolog 1																																				SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667423G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1144G>A	16.37:g.50667423G>A	ENSP00000268459:p.Ala382Thr						p.A382T	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1368	+		all_cancers(37;0.229)	382					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1144G>A	CCDS10743.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	8.042	0.764082	0.15914	.	.	ENSG00000140807	ENST00000268459	T	0.66460	-0.21	4.05	0.735	0.18300	.	0.230743	0.33005	N	0.005395	T	0.50973	0.1647	L	0.38838	1.175	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.41520	-0.9504	10	0.38643	T	0.18	-7.7035	8.5348	0.33357	0.2974:0.0:0.7026:0.0	.	382	Q969G9	NKD1_HUMAN	T	382	ENSP00000268459:A382T	ENSP00000268459:A382T	A	+	1	0	NKD1	49224924	0.009000	0.17119	0.486000	0.27416	0.494000	0.33585	0.822000	0.27352	0.380000	0.24823	-0.679000	0.03777	GCC		0.716	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			7	15	0	0	0	0	7	15				
CSNK2A2	1459	broad.mit.edu	37	16	58202514	58202514	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:58202514C>T	ENST00000262506.3	-	6	696	c.513G>A	c.(511-513)aaG>aaA	p.K171K	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463																																					Melanoma(54;119 1219 18349 35700 39738)	uc002enc.2		NA																	0				central_nervous_system(1)	1						c.(511-513)AAG>AAA		casein kinase 2, alpha prime polypeptide							193.0	170.0	178.0					16																	58202514		2198	4300	6498	SO:0001630	splice_region_variant	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58202514C>T	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.513+1G>A	16.37:g.58202514C>T							p.K171K	NM_001896	NP_001887	P19784	CSK22_HUMAN			6	655	-			171			Protein kinase.			Silent	SNP	ENST00000262506.3	37	c.513G>A	CCDS10794.1																																																																																				0.463	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896	Silent	23	27	0	0	0	0	23	27				
BCO1	53630	broad.mit.edu	37	16	81301576	81301576	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:81301576G>A	ENST00000258168.2	+	6	1144	c.683G>A	c.(682-684)cGc>cAc	p.R228H	BCMO1_ENST00000425577.2_Missense_Mutation_p.R159H	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ATCCCATCCCGCTCCCTGCTC	0.527																																						uc002fgn.1		NA																	0					0						c.(682-684)CGC>CAC		beta-carotene 15,15'-monooxygenase							135.0	105.0	115.0					16																	81301576		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81301576G>A																												ENST00000258168.2:c.683G>A	16.37:g.81301576G>A	ENSP00000258168:p.Arg228His					BCMO1_uc010vnp.1_Missense_Mutation_p.R159H	p.R228H	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			6	901	+			228						Missense_Mutation	SNP	ENST00000258168.2	37	c.683G>A	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	g	10.98	1.503076	0.26949	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95035	-3.59;-3.59	5.34	2.31	0.28768	.	0.220764	0.49305	N	0.000157	D	0.90580	0.7047	M	0.66939	2.045	0.46396	D	0.999022	B;B	0.31227	0.314;0.121	B;B	0.28139	0.086;0.025	T	0.82963	-0.0196	10	0.27785	T	0.31	-8.7711	5.5391	0.17028	0.2737:0.0:0.5984:0.1279	.	159;228	E7EM88;Q9HAY6	.;BCDO1_HUMAN	H	228;159	ENSP00000258168:R228H;ENSP00000400586:R159H	ENSP00000258168:R228H	R	+	2	0	BCMO1	79859077	0.950000	0.32346	0.998000	0.56505	0.272000	0.26649	0.867000	0.27968	0.252000	0.21531	0.493000	0.49557	CGC		0.527	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			27	48	0	0	0	0	27	48				
ZC3H18	124245	broad.mit.edu	37	16	88643837	88643837	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:88643837C>T	ENST00000301011.5	+	2	506	c.306C>T	c.(304-306)gaC>gaT	p.D102D	ZC3H18_ENST00000452588.2_Silent_p.D102D	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	102						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGAGGGGGACGAAGGGGAGG	0.617																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(304-306)GAC>GAT		zinc finger CCCH-type containing 18							39.0	41.0	41.0					16																	88643837		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643837C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.306C>T	16.37:g.88643837C>T						ZC3H18_uc010voy.1_Intron|ZC3H18_uc010voz.1_Silent_p.D102D|ZC3H18_uc010vpa.1_Silent_p.D102D	p.D102D	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	506	+			102					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.306C>T	CCDS10967.1																																																																																				0.617	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		11	17	0	0	0	0	11	17				
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000420246.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.A159V	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	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	GATGGCCATGGCGCGGACGCG	0.627		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		81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(475-477)GCC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578454		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.chr17:7578454G>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.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	p.A159V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	670	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.476C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	22	0	0	0	0	19	22				
KRT33B	3884	broad.mit.edu	37	17	39521652	39521652	+	Missense_Mutation	SNP	C	C	T	rs148300082	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:39521652C>T	ENST00000251646.3	-	4	791	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	248	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.627																																						uc002hwl.2		NA																	0					0						c.(742-744)GCC>ACC		type I hair keratin 3B		C	THR/ALA	0,4378		0,0,2189	58.0	57.0	57.0		742	2.3	1.0	17	dbSNP_134	57	2,8590	2.2+/-6.3	0,2,4294	no	missense	KRT33B	NM_002279.3	58	0,2,6483	TT,TC,CC		0.0233,0.0,0.0154	benign	248/405	39521652	2,12968	2189	4296	6485	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521652C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.742G>A	17.37:g.39521652C>T	ENSP00000251646:p.Ala248Thr						p.A248T	NM_002279	NP_002270	Q14525	KT33B_HUMAN			4	787	-		Breast(137;0.000496)	248			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.742G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	4.456	0.084373	0.08583	0.0	2.33E-4	ENSG00000131738	ENST00000251646	D	0.88741	-2.42	4.54	2.3	0.28687	Filament (1);	0.388682	0.25001	N	0.033912	T	0.64091	0.2567	N	0.01668	-0.77	0.18873	N	0.999981	B	0.06786	0.001	B	0.06405	0.002	T	0.52917	-0.8511	10	0.19590	T	0.45	.	0.7193	0.00938	0.1628:0.1944:0.1683:0.4746	.	248	Q14525	KT33B_HUMAN	T	248	ENSP00000251646:A248T	ENSP00000251646:A248T	A	-	1	0	KRT33B	36775178	0.000000	0.05858	0.992000	0.48379	0.818000	0.46254	-1.793000	0.01755	0.357000	0.24183	-0.312000	0.09012	GCC		0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		7	41	0	0	0	0	7	41				
SDK2	54549	broad.mit.edu	37	17	71395327	71395327	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:71395327G>A	ENST00000392650.3	-	22	3073	c.3073C>T	c.(3073-3075)Cgc>Tgc	p.R1025C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1025C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1025	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCAGCCAGCGGGAGATGGAG	0.632																																						uc010dfm.2		NA																	0				ovary(2)	2						c.(3073-3075)CGC>TGC		sidekick 2							24.0	25.0	25.0					17																	71395327		2202	4300	6502	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71395327G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3073C>T	17.37:g.71395327G>A	ENSP00000376421:p.Arg1025Cys					SDK2_uc002jjt.3_Missense_Mutation_p.R184C|SDK2_uc010dfn.2_Missense_Mutation_p.R704C	p.R1025C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			22	3073	-			1025			Fibronectin type-III 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3073C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807461	0.50421	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.58506	0.33;0.33;0.33	4.95	4.95	0.65309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.59436	1.845	0.53688	D	0.999974	B;B;B	0.33841	0.428;0.186;0.291	B;B;B	0.28849	0.083;0.095;0.057	T	0.56625	-0.7948	10	0.54805	T	0.06	.	12.0453	0.53477	0.0:0.0:0.6979:0.3021	.	1025;1025;1025	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	649;1025;1025;201;1025	ENSP00000376421:R1025C;ENSP00000373378:R1025C;ENSP00000407098:R201C	ENSP00000324967:R1025C	R	-	1	0	SDK2	68906922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.999000	0.49473	2.306000	0.77630	0.555000	0.69702	CGC		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		15	24	0	0	0	0	15	24				
RBBP8	5932	broad.mit.edu	37	18	20555133	20555133	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr18:20555133C>G	ENST00000399722.2	+	6	730	c.379C>G	c.(379-381)Cta>Gta	p.L127V	RBBP8_ENST00000360790.5_Missense_Mutation_p.L127V|RBBP8_ENST00000399725.2_Missense_Mutation_p.L127V|RBBP8_ENST00000327155.5_Missense_Mutation_p.L127V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	127					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAGGAATACTCTACAGGAAGA	0.269								Homologous recombination																														uc002ktw.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(379-381)CTA>GTA	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							28.0	30.0	29.0					18																	20555133		2190	4270	6460	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20555133C>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.379C>G	18.37:g.20555133C>G	ENSP00000382628:p.Leu127Val					RBBP8_uc002kty.2_Missense_Mutation_p.L127V|RBBP8_uc002ktz.2_Missense_Mutation_p.L127V|RBBP8_uc002kua.2_Missense_Mutation_p.L127V|RBBP8_uc002ktx.1_Missense_Mutation_p.L127V	p.L127V	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		6	710	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		127			Potential.		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.379C>G	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732665	0.30684	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.62498	0.03;0.03;0.03;0.05;0.02	5.33	3.12	0.35913	Tumour-suppressor protein CtIP N-terminal (1);	0.000000	0.64402	D	0.000003	T	0.72676	0.3490	M	0.72118	2.19	0.80722	D	1	D;P;D	0.89917	1.0;0.604;1.0	D;B;D	0.91635	0.999;0.286;0.999	T	0.73196	-0.4059	10	0.87932	D	0	-10.3319	5.3897	0.16237	0.0:0.6257:0.2124:0.1619	.	127;127;127	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	V	127	ENSP00000323050:L127V;ENSP00000382630:L127V;ENSP00000382628:L127V;ENSP00000382627:L127V;ENSP00000354024:L127V	ENSP00000323050:L127V	L	+	1	2	RBBP8	18809131	1.000000	0.71417	0.994000	0.49952	0.167000	0.22549	2.156000	0.42310	1.362000	0.46000	-0.182000	0.12963	CTA		0.269	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		5	11	0	0	0	0	5	11				
PDE4C	5143	broad.mit.edu	37	19	18329002	18329002	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:18329002G>A	ENST00000355502.3	-	15	2158	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	PDE4C_ENST00000447275.3_Silent_p.D323D|PDE4C_ENST00000598111.2_Silent_p.D144D|PDE4C_ENST00000539010.1_Silent_p.D198D|PDE4C_ENST00000262805.12_Silent_p.D397D|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Silent_p.D429D|PDE4C_ENST00000597297.1_Silent_p.D199D|PDE4C_ENST00000594465.3_Silent_p.D429D			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	429					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GATGGTCCACGTCGTGGATGG	0.592																																						uc010xqc.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1285-1287)GAC>GAT		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						105.0	100.0	102.0					19																	18329002		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18329002G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1287C>T	19.37:g.18329002G>A						PDE4C_uc002nik.3_Silent_p.D429D|PDE4C_uc002nil.3_Silent_p.D429D|PDE4C_uc002nif.3_Silent_p.D198D|PDE4C_uc002nig.3_Silent_p.D144D|PDE4C_uc002nih.3_Silent_p.D199D|PDE4C_uc010ebk.2_Silent_p.D323D|PDE4C_uc002nii.3_Silent_p.D397D|PDE4C_uc010ebl.2_Silent_p.D143D|PDE4C_uc010xqd.1_Silent_p.D198D	p.D429D	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			11	1767	-			429				Divalent metal cation 1.|cAMP (By similarity).|Divalent metal cation 2.	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.1287C>T	CCDS12373.1																																																																																				0.592	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			20	41	0	0	0	0	20	41				
KMT2B	9757	broad.mit.edu	37	19	36217142	36217142	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:36217142T>C	ENST00000222270.7	+	14	3891	c.3891T>C	c.(3889-3891)tgT>tgC	p.C1297C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.C1297C	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1297					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCAGATCTGTTCAGCCTGTG	0.597																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3889-3891)TGT>TGC		myeloid/lymphoid or mixed-lineage leukemia 4							54.0	57.0	56.0					19																	36217142		1988	4180	6168	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36217142T>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3891T>C	19.37:g.36217142T>C							p.C1297C	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	3891	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1297			PHD-type 2.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.3891T>C	CCDS46055.1																																																																																				0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		5	32	0	0	0	0	5	32				
ZNF829	374899	broad.mit.edu	37	19	37382576	37382576	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:37382576T>C	ENST00000391711.3	-	6	1481	c.1117A>G	c.(1117-1119)Atc>Gtc	p.I373V	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.I454V|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	373					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(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGTATGGATTCTCTGATGT	0.373																																						uc002ofa.1		NA																	0					0						c.(1117-1119)ATC>GTC		zinc finger protein 829							74.0	77.0	76.0					19																	37382576		2196	4297	6493	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382576T>C	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1117A>G	19.37:g.37382576T>C	ENSP00000429266:p.Ile373Val					ZNF345_uc002oez.2_Intron	p.I373V	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1479	-	Esophageal squamous(110;0.183)		373			C2H2-type 8.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.1117A>G	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091583	0.36952	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.16324	2.35	3.05	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10981	0.0268	N	0.12637	0.245	0.20307	N	0.999919	B	0.31153	0.31	B	0.40038	0.317	T	0.36335	-0.9752	9	0.38643	T	0.18	.	4.1855	0.10395	0.0:0.1276:0.2078:0.6646	.	373	Q3KNS6	ZN829_HUMAN	V	373	ENSP00000429266:I373V	ENSP00000429266:I373V	I	-	1	0	ZNF829	42074416	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.581000	0.23819	0.582000	0.29556	0.455000	0.32223	ATC		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		9	19	0	0	0	0	9	19				
CEACAM5	1048	broad.mit.edu	37	19	42224848	42224848	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:42224848C>A	ENST00000221992.6	+	8	1892	c.1778C>A	c.(1777-1779)cCg>cAg	p.P593Q	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P593Q|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P592Q|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	593	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAGATGGGCCGGACACCCCC	0.552																																						uc002ork.2		NA																	0				skin(2)	2						c.(1777-1779)CCG>CAG		carcinoembryonic antigen-related cell adhesion							127.0	134.0	132.0					19																	42224848		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224848C>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1778C>A	19.37:g.42224848C>A	ENSP00000221992:p.Pro593Gln					CEACAM5_uc002orj.1_Missense_Mutation_p.P592Q|CEACAM5_uc002orl.2_Missense_Mutation_p.P593Q	p.P593Q	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1899	+			593			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1778C>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628694	0.28978	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.45276	0.9;0.9	2.17	-0.144	0.13440	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67998	0.2953	H	0.97158	3.95	0.09310	N	1	D;D	0.62365	0.972;0.991	P;D	0.66716	0.801;0.946	T	0.55897	-0.8068	9	0.87932	D	0	.	3.2532	0.06822	0.0:0.5449:0.2805:0.1746	.	593;593	P06731;Q53G30	CEAM5_HUMAN;.	Q	593;593;311	ENSP00000221992:P593Q;ENSP00000385072:P593Q	ENSP00000221992:P593Q	P	+	2	0	CEACAM5	46916688	0.691000	0.27709	0.001000	0.08648	0.047000	0.14425	0.935000	0.28924	0.028000	0.15324	0.467000	0.42956	CCG		0.552	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		33	141	1	0	2.81e-11	9.55e-11	33	141				
SULT2A1	6822	broad.mit.edu	37	19	48374806	48374806	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:48374806T>G	ENST00000222002.3	-	6	903	c.764A>C	c.(763-765)aAa>aCa	p.K255T		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	GAAGTGATTTTTCCAGTCCCC	0.478																																						uc002phr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(763-765)AAA>ACA		bile-salt sulfotransferase 2A1							119.0	109.0	112.0					19																	48374806		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48374806T>G	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.764A>C	19.37:g.48374806T>G	ENSP00000222002:p.Lys255Thr						p.K255T	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	6	904	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	255						Missense_Mutation	SNP	ENST00000222002.3	37	c.764A>C	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698492	0.48307	.	.	ENSG00000105398	ENST00000222002	D	0.84873	-1.91	4.23	4.23	0.50019	Sulfotransferase domain (1);	0.218673	0.29924	N	0.010842	D	0.93167	0.7824	M	0.93898	3.47	0.43292	D	0.995272	D	0.63046	0.992	D	0.65684	0.937	D	0.94295	0.7532	10	0.87932	D	0	.	11.6119	0.51064	0.0:0.0:0.0:1.0	.	255	Q06520	ST2A1_HUMAN	T	255	ENSP00000222002:K255T	ENSP00000222002:K255T	K	-	2	0	SULT2A1	53066618	1.000000	0.71417	0.908000	0.35775	0.432000	0.31715	1.433000	0.34947	1.905000	0.55150	0.533000	0.62120	AAA		0.478	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		3	58	0	0	0	0	3	58				
MYBPC2	4606	broad.mit.edu	37	19	50958379	50958379	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:50958379C>T	ENST00000357701.5	+	19	2080	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	677	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTCGTAGAGCGGAAGAAGAA	0.572																																						uc002psf.2		NA																	0				breast(1)	1						c.(2029-2031)CGG>TGG		myosin binding protein C, fast type							48.0	50.0	50.0					19																	50958379		2013	4180	6193	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958379C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2029C>T	19.37:g.50958379C>T	ENSP00000350332:p.Arg677Trp						p.R677W	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	19	2080	+		all_neural(266;0.057)	677			Fibronectin type-III 1.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2029C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	16.73	3.203076	0.58234	.	.	ENSG00000086967	ENST00000357701	T	0.55588	0.51	4.18	1.78	0.24846	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.803368	0.09023	U	0.859849	T	0.74336	0.3703	M	0.89214	3.015	0.35933	D	0.832697	D	0.89917	1.0	D	0.91635	0.999	T	0.74127	-0.3765	10	0.62326	D	0.03	.	8.3606	0.32357	0.2799:0.5771:0.143:0.0	.	677	Q14324	MYPC2_HUMAN	W	677	ENSP00000350332:R677W	ENSP00000350332:R677W	R	+	1	2	MYBPC2	55650191	0.996000	0.38824	0.997000	0.53966	0.836000	0.47400	0.443000	0.21644	0.871000	0.35750	0.461000	0.40582	CGG		0.572	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		11	27	0	0	0	0	11	27				
TMEM150B	284417	broad.mit.edu	37	19	55824407	55824407	+	Silent	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824407G>T	ENST00000326652.4	-	8	704	c.522C>A	c.(520-522)gcC>gcA	p.A174A	CTD-2105E13.14_ENST00000596786.1_RNA|TMEM150B_ENST00000438693.1_Silent_p.A174A	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	174						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GCAGCGAGCAGGCGTGGAGGA	0.677																																						uc010esw.1		NA																	0					0						c.(520-522)GCC>GCA		transmembrane protein 150B precursor							27.0	34.0	32.0					19																	55824407		2177	4274	6451	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55824407G>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.522C>A	19.37:g.55824407G>T						TMEM150B_uc010yfu.1_Silent_p.A174A|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	p.A174A	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			8	695	-			174			Helical; (Potential).		B7ZW71	Silent	SNP	ENST00000326652.4	37	c.522C>A	CCDS42629.1																																																																																				0.677	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		8	9	1	0	5.18e-06	1.65e-05	8	9				
TMEM150B	284417	broad.mit.edu	37	19	55824419	55824419	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824419G>A	ENST00000326652.4	-	8	692	c.510C>T	c.(508-510)atC>atT	p.I170I	CTD-2105E13.14_ENST00000596786.1_RNA|TMEM150B_ENST00000438693.1_Silent_p.I170I	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	170						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CGTGGAGGACGATCACTGCCC	0.677																																						uc010esw.1		NA																	0					0						c.(508-510)ATC>ATT		transmembrane protein 150B precursor							25.0	32.0	30.0					19																	55824419		2176	4275	6451	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55824419G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.510C>T	19.37:g.55824419G>A						TMEM150B_uc010yfu.1_Silent_p.I170I|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	p.I170I	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			8	683	-			170			Helical; (Potential).		B7ZW71	Silent	SNP	ENST00000326652.4	37	c.510C>T	CCDS42629.1																																																																																				0.677	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		6	7	0	0	0	0	6	7				
ZNF835	90485	broad.mit.edu	37	19	57175695	57175695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57175695G>A	ENST00000537055.2	-	2	1103	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	291					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTCAGGTGCGCGATCTGCGC	0.697																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(937-939)GCG>GTG		zinc finger protein 835							19.0	20.0	19.0					19																	57175695		2196	4294	6490	SO:0001583	missense	90485							g.chr19:57175695G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.872C>T	19.37:g.57175695G>A	ENSP00000444747:p.Ala291Val					ZNF835_uc010ygn.1_Missense_Mutation_p.A291V	p.A313V	NM_001005850	NP_001005850					2	938	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.938C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911279	0.52439	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07688	3.17	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.31804	0.96	0.09310	N	1	D	0.63880	0.993	B	0.36666	0.23	T	0.37842	-0.9688	9	0.56958	D	0.05	.	4.6852	0.12754	0.1802:0.0:0.8198:0.0	.	313	Q9Y2P0	ZN835_HUMAN	V	313;291	ENSP00000444747:A291V	ENSP00000341756:A313V	A	-	2	0	ZNF835	61867507	0.000000	0.05858	0.004000	0.12327	0.933000	0.57130	0.017000	0.13399	1.506000	0.48736	0.561000	0.74099	GCG		0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		6	9	0	0	0	0	6	9				
USP29	57663	broad.mit.edu	37	19	57640091	57640091	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57640091G>T	ENST00000254181.4	+	4	502	c.48G>T	c.(46-48)aaG>aaT	p.K16N	USP29_ENST00000598197.1_Missense_Mutation_p.K16N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	16					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGCCAGAAGACTGGGATGA	0.348																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(46-48)AAG>AAT		ubiquitin specific peptidase 29							47.0	47.0	47.0					19																	57640091		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640091G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.48G>T	19.37:g.57640091G>T	ENSP00000254181:p.Lys16Asn						p.K16N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	404	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	16						Missense_Mutation	SNP	ENST00000254181.4	37	c.48G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	3.549	-0.092075	0.07053	.	.	ENSG00000131864	ENST00000254181	T	0.50277	0.75	2.64	-4.17	0.03857	.	2.590260	0.02108	U	0.054550	T	0.31358	0.0794	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.06698	-1.0812	10	0.40728	T	0.16	0.731	0.8447	0.01158	0.2557:0.3436:0.2272:0.1736	.	16	Q9HBJ7	UBP29_HUMAN	N	16	ENSP00000254181:K16N	ENSP00000254181:K16N	K	+	3	2	USP29	62331903	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.501000	0.06398	-0.942000	0.03695	-1.113000	0.02065	AAG		0.348	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			9	21	1	0	7.48e-07	2.4e-06	9	21				
GRHL1	29841	broad.mit.edu	37	2	10104143	10104143	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:10104143G>A	ENST00000324907.9	+	6	1011	c.875G>A	c.(874-876)gGa>gAa	p.G292E	GRHL1_ENST00000405379.2_Missense_Mutation_p.G292E|GRHL1_ENST00000324883.5_Missense_Mutation_p.G103E	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	292					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGCAGTGAAGGAATCCATCAT	0.473																																						uc002raa.2		NA																	0				pancreas(1)|skin(1)	2						c.(874-876)GGA>GAA		grainyhead-like 1							158.0	125.0	136.0					2																	10104143		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10104143G>A	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.875G>A	2.37:g.10104143G>A	ENSP00000324693:p.Gly292Glu					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.G103E|GRHL1_uc010yjb.1_Missense_Mutation_p.G141E	p.G292E	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	6	1046	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.875G>A	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222322	0.58560	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.16457	2.34;2.34;2.34	5.43	4.55	0.56014	CP2 transcription factor (1);	0.341087	0.33895	N	0.004455	T	0.13927	0.0337	N	0.12569	0.235	0.51233	D	0.999912	P;B	0.36412	0.552;0.086	B;B	0.44224	0.444;0.191	T	0.11867	-1.0570	10	0.11794	T	0.64	.	16.5217	0.84319	0.0:0.131:0.869:0.0	.	103;292	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	E	292;103;292	ENSP00000384209:G292E;ENSP00000324494:G103E;ENSP00000324693:G292E	ENSP00000324494:G103E	G	+	2	0	GRHL1	10021594	1.000000	0.71417	0.891000	0.34965	0.993000	0.82548	3.618000	0.54188	1.424000	0.47217	0.655000	0.94253	GGA		0.473	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		8	55	0	0	0	0	8	55				
DNMT3A	1788	broad.mit.edu	37	2	25469959	25469959	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:25469959C>T	ENST00000264709.3	-	9	1420	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	DNMT3A_ENST00000321117.5_Silent_p.K361K|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Silent_p.K172K|DNMT3A_ENST00000402667.1_Silent_p.K138K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	361	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGGGCTGCTTGTTGTACG	0.597			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1081-1083)AAG>AAA		DNA cytosine methyltransferase 3 alpha isoform							150.0	104.0	119.0					2																	25469959		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469959C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1083G>A	2.37:g.25469959C>T						DNMT3A_uc002rgd.2_Silent_p.K361K|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.K172K	p.K361K	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			9	1340	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		361			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1083G>A	CCDS33157.1																																																																																				0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		16	26	0	0	0	0	16	26				
SLC5A6	8884	broad.mit.edu	37	2	27430151	27430151	+	Missense_Mutation	SNP	C	C	T	rs188933728		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:27430151C>T	ENST00000310574.3	-	3	841	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R123H	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	123					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GAGATGCAGGCGGTAGAAAAC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21663	0.001		0.0	False		,,,				2504	0.0					uc002rjd.2		NA																	0				ovary(2)	2						c.(367-369)CGC>CAC		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						52.0	46.0	48.0					2																	27430151		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27430151C>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.368G>A	2.37:g.27430151C>T	ENSP00000310208:p.Arg123His					SLC5A6_uc010eyv.1_Missense_Mutation_p.R123H|SLC5A6_uc002rje.1_Missense_Mutation_p.R123H	p.R123H	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			3	759	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		123					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.368G>A	CCDS1740.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.6	4.020077	0.75275	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.93838	0.8029	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94123	0.7381	10	0.66056	D	0.02	.	12.2858	0.54791	0.0:0.9169:0.0:0.0831	.	123	Q9Y289	SC5A6_HUMAN	H	123	ENSP00000310208:R123H;ENSP00000384853:R123H;ENSP00000403851:R123H;ENSP00000384265:R123H;ENSP00000411536:R123H	ENSP00000310208:R123H	R	-	2	0	SLC5A6	27283655	0.999000	0.42202	0.994000	0.49952	0.421000	0.31385	4.008000	0.57103	1.396000	0.46663	0.563000	0.77884	CGC		0.557	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		14	29	0	0	0	0	14	29				
SCN1A	6323	broad.mit.edu	37	2	166904235	166904235	+	Missense_Mutation	SNP	G	G	T	rs121917923		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:166904235G>T	ENST00000303395.4	-	8	1071	c.1072C>A	c.(1072-1074)Ccc>Acc	p.P358T	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P358T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P358T|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P358T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	358			P -> T (in EIEE6; dbSNP:rs121917923). {ECO:0000269|PubMed:17561957}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATAATTGGGATTTCTACCA	0.408																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CM076506	SCN1A	M	rs121917923	c.(1072-1074)CCC>ACC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						112.0	109.0	110.0					2																	166904235		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166904235G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1072C>A	2.37:g.166904235G>T	ENSP00000303540:p.Pro358Thr					SCN1A_uc002udo.3_Missense_Mutation_p.P227T|SCN1A_uc010fpk.2_Missense_Mutation_p.P227T	p.P358T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			8	1090	-			358			I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1072C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626972	0.87560	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.99545	0.9837	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.997	D	0.97766	1.0223	10	0.87932	D	0	.	18.6483	0.91419	0.0:0.0:1.0:0.0	.	358;358;358	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	358	ENSP00000407030:P358T;ENSP00000303540:P358T;ENSP00000364554:P358T;ENSP00000386312:P358T	ENSP00000303540:P358T	P	-	1	0	SCN1A	166612481	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.810000	0.99221	2.492000	0.84095	0.655000	0.94253	CCC		0.408	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		24	68	1	0	9.86e-18	3.48e-17	24	68				
SCN7A	6332	broad.mit.edu	37	2	167298060	167298060	+	Missense_Mutation	SNP	C	C	A	rs369751581		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:167298060C>A	ENST00000409855.1	-	14	2129	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	668					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATGTGCCAGCGTGGGAGTTG	0.458																																						uc002udu.1		NA																	0				large_intestine(1)	1						c.(2002-2004)CGC>CTC		sodium channel, voltage-gated, type VII, alpha							115.0	120.0	118.0					2																	167298060		2203	4300	6503	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167298060C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2003G>T	2.37:g.167298060C>A	ENSP00000386796:p.Arg668Leu					SCN7A_uc010fpm.1_RNA	p.R668L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			14	2130	-			668						Missense_Mutation	SNP	ENST00000409855.1	37	c.2003G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025739	0.75390	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97505	-4.41;-4.41	4.79	1.93	0.25924	Ion transport (1);	0.320352	0.27139	N	0.020747	D	0.97639	0.9226	M	0.86953	2.85	0.41313	D	0.987121	D	0.60160	0.987	P	0.57960	0.83	D	0.96586	0.9434	10	0.87932	D	0	.	8.023	0.30421	0.0:0.7145:0.0:0.2855	.	668	Q01118	SCN7A_HUMAN	L	668	ENSP00000386796:R668L;ENSP00000413699:R668L	ENSP00000259060:R668L	R	-	2	0	SCN7A	167006306	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	1.692000	0.37731	0.297000	0.22615	0.591000	0.81541	CGC		0.458	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			15	46	1	0	6.5e-13	2.25e-12	15	46				
TTN	7273	broad.mit.edu	37	2	179474008	179474008	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:179474008G>C	ENST00000591111.1	-	223	47330	c.47106C>G	c.(47104-47106)gaC>gaG	p.D15702E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8403E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14775E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D17343E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8470E|TTN_ENST00000460472.2_Missense_Mutation_p.D8278E			Q8WZ42	TITIN_HUMAN	titin	15702	Ig-like 98.				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)			ACAGACCATGGTCAGGTCGGA	0.433																																						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.(44323-44325)GAC>GAG		titin isoform N2-A							89.0	85.0	86.0					2																	179474008		1902	4117	6019	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474008G>C	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.47106C>G	2.37:g.179474008G>C	ENSP00000465570:p.Asp15702Glu					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D8470E|TTN_uc010zfi.1_Missense_Mutation_p.D8403E|TTN_uc010zfj.1_Missense_Mutation_p.D8278E	p.D14775E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44549	-			15702					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.44325C>G		.	.	.	.	.	.	.	.	.	.	G	10.72	1.429485	0.25726	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.68	-0.149	0.13420	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86012	0.5831	H	0.94698	3.57	0.38238	D	0.941237	P;P;P;P	0.44380	0.716;0.716;0.716;0.834	B;B;B;P	0.45610	0.362;0.362;0.362;0.487	D	0.87494	0.2429	9	0.87932	D	0	.	10.5225	0.44927	0.4882:0.0:0.5118:0.0	.	8278;8403;8470;15702	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14775;8278;8470;8403;8278	ENSP00000343764:D14775E;ENSP00000434586:D8278E;ENSP00000340554:D8470E;ENSP00000352154:D8403E	ENSP00000340554:D8470E	D	-	3	2	TTN	179182253	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	0.932000	0.28884	0.039000	0.15632	-1.031000	0.02408	GAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	23	0	0	0	0	11	23				
TMEFF2	23671	broad.mit.edu	37	2	192922424	192922424	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:192922424C>T	ENST00000272771.5	-	5	1701	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	TMEFF2_ENST00000392314.1_Missense_Mutation_p.E173K	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	173						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCGGCATCTTCGTCACATTCT	0.378																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NA																	0				lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(517-519)GAA>AAA		transmembrane protein with EGF-like and two							123.0	110.0	114.0					2																	192922424		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192922424C>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.517G>A	2.37:g.192922424C>T	ENSP00000272771:p.Glu173Lys						p.E173K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		5	911	-			173			Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.517G>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048327	0.75846	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.13420	2.59;2.59	4.68	4.68	0.58851	.	0.199049	0.43579	D	0.000544	T	0.20333	0.0489	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.58331	0.837	T	0.02526	-1.1146	10	0.19147	T	0.46	-20.9382	16.3329	0.83049	0.0:1.0:0.0:0.0	.	173	Q9UIK5	TEFF2_HUMAN	K	173	ENSP00000376128:E173K;ENSP00000272771:E173K	ENSP00000272771:E173K	E	-	1	0	TMEFF2	192630669	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.787000	0.75099	2.592000	0.87571	0.650000	0.86243	GAA		0.378	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		24	43	0	0	0	0	24	43				
FN1	2335	broad.mit.edu	37	2	216240367	216240367	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:216240367T>G	ENST00000359671.1	-	36	5954	c.5689A>C	c.(5689-5691)Atc>Ctc	p.I1897L	FN1_ENST00000336916.4_Missense_Mutation_p.I1897L|FN1_ENST00000346544.3_Missense_Mutation_p.I1897L|FN1_ENST00000357009.2_Missense_Mutation_p.I1897L|FN1_ENST00000421182.1_Missense_Mutation_p.I1807L|FN1_ENST00000345488.5_Missense_Mutation_p.I1897L|FN1_ENST00000357867.4_Missense_Mutation_p.I1807L|FN1_ENST00000443816.1_Missense_Mutation_p.I1807L|FN1_ENST00000446046.1_Missense_Mutation_p.I1897L|FN1_ENST00000356005.4_Missense_Mutation_p.I1807L|FN1_ENST00000354785.4_Missense_Mutation_p.I1988L|FN1_ENST00000323926.6_Missense_Mutation_p.I1988L|FN1_ENST00000432072.2_Missense_Mutation_p.I1898L			P02751	FINC_HUMAN	fibronectin 1	1897	Binds to FBLN1.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GAGGCGTCGATGACCACAGGG	0.428																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(5962-5964)ATC>CTC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	112.0	113.0					2																	216240367		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216240367T>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5689A>C	2.37:g.216240367T>G	ENSP00000352696:p.Ile1897Leu					FN1_uc002vfb.2_Missense_Mutation_p.I1807L|FN1_uc002vfc.2_Missense_Mutation_p.I1807L|FN1_uc002vfd.2_Missense_Mutation_p.I1988L|FN1_uc002vfe.2_Missense_Mutation_p.I1897L|FN1_uc002vff.2_Missense_Mutation_p.I1897L|FN1_uc002vfg.2_Missense_Mutation_p.I1807L|FN1_uc002vfh.2_Missense_Mutation_p.I1807L|FN1_uc002vfi.2_Missense_Mutation_p.I1988L|FN1_uc002vfj.2_Missense_Mutation_p.I1898L|FN1_uc002vez.2_Missense_Mutation_p.I182L|FN1_uc010zjp.1_Missense_Mutation_p.I525L|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.I350L|FN1_uc010fvd.1_Intron	p.I1988L	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	37	6228	-		Renal(323;0.127)	1897			Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 14.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5962A>C		.	.	.	.	.	.	.	.	.	.	T	12.37	1.918874	0.33908	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;2.28	5.68	5.68	0.88126	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.085776	0.49916	D	0.000137	T	0.44307	0.1287	N	0.04203	-0.255	0.19300	N	0.999974	P;B;B;B;B;B;B;B;P;P;B;B	0.39060	0.506;0.041;0.0;0.002;0.014;0.024;0.001;0.008;0.657;0.657;0.002;0.024	D;B;B;B;B;B;B;B;D;D;B;B	0.68943	0.961;0.083;0.011;0.064;0.121;0.038;0.049;0.057;0.961;0.961;0.07;0.038	T	0.44375	-0.9332	10	0.28530	T	0.3	.	7.5421	0.27744	0.0:0.0717:0.1429:0.7854	.	1897;1898;1988;1807;1807;1897;1897;1898;1807;1807;1988;1897	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	L	1807;1988;1897;1807;1988;1898;1897;1897;1897;1897;1897;1807;1898;1807;614;16	ENSP00000394423:I1807L;ENSP00000323534:I1988L;ENSP00000338200:I1897L;ENSP00000350534:I1807L;ENSP00000346839:I1988L;ENSP00000352696:I1897L;ENSP00000265312:I1897L;ENSP00000273049:I1897L;ENSP00000349509:I1897L;ENSP00000410422:I1897L;ENSP00000415018:I1807L;ENSP00000399538:I1898L;ENSP00000348285:I1807L;ENSP00000416139:I614L;ENSP00000392565:I16L	ENSP00000265313:I1898L	I	-	1	0	FN1	215948612	0.911000	0.30947	0.894000	0.35097	0.938000	0.57974	0.927000	0.28818	2.155000	0.67459	0.460000	0.39030	ATC		0.428	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		27	48	0	0	0	0	27	48				
DZANK1	55184	broad.mit.edu	37	20	18433269	18433269	+	Missense_Mutation	SNP	C	C	T	rs542484500		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:18433269C>T	ENST00000358866.6	-	5	555	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DZANK1_ENST00000262547.5_Missense_Mutation_p.R178H|DZANK1_ENST00000357236.4_Missense_Mutation_p.A28T|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.R180H			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	178							zinc ion binding (GO:0008270)	p.R178H(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CTGGGACTGGCGGGTGGGTGG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		14549	0.001		0.0	False		,,,				2504	0.0					uc010zsa.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(589-591)CGC>CAC		hypothetical protein LOC55184							43.0	45.0	45.0					20																	18433269		1826	4074	5900	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18433269C>T	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.533G>A	20.37:g.18433269C>T	ENSP00000351734:p.Arg178His					C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.A28T|C20orf12_uc002wqq.3_Missense_Mutation_p.R178H|C20orf12_uc002wqu.1_Intron|C20orf12_uc010gct.1_Intron	p.R197H	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			6	799	-		Myeloproliferative disorder(85;0.0122)	Error:Variant_position_missing_in_Q9NVP4_after_alignment					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.590G>A	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.38|10.38	1.332937|1.332937	0.24167|0.24167	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000357236|ENST00000262547;ENST00000329494	D|T;T	0.86230|0.53206	-2.09|0.63;0.63	5.3|5.3	-1.54|-1.54	0.08584|0.08584	.|.	.|3.535580	.|0.01203	.|N	.|0.007637	T|T	0.18964|0.18964	0.0455|0.0455	N|N	0.00707|0.00707	-1.245|-1.245	0.09310|0.09310	N|N	1|1	B|B;B	0.06786|0.09022	0.001|0.0;0.002	B|B;B	0.06405|0.01281	0.002|0.0;0.0	T|T	0.21690|0.21690	-1.0238|-1.0238	9|10	0.27785|0.18276	T|T	0.31|0.48	3.9522|3.9522	10.0531|10.0531	0.42228|0.42228	0.0:0.4417:0.0:0.5583|0.0:0.4417:0.0:0.5583	.|.	28|197;178	Q9NVP4-4|B7Z631;Q9NVP4	.|.;DZAN1_HUMAN	T|H	28|178;180	ENSP00000349774:A28T|ENSP00000262547:R178H;ENSP00000328866:R180H	ENSP00000349774:A28T|ENSP00000262547:R178H	A|R	-|-	1|2	0|0	C20orf12|C20orf12	18381269|18381269	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.526000|0.526000	0.34562|0.34562	0.498000|0.498000	0.22530|0.22530	-0.628000|-0.628000	0.05582|0.05582	0.455000|0.455000	0.32223|0.32223	GCC|CGC		0.433	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		3	5	0	0	0	0	3	5				
SPATA2	9825	broad.mit.edu	37	20	48523004	48523004	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:48523004C>T	ENST00000422556.1	-	3	1064	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	SPATA2_ENST00000543716.1_Missense_Mutation_p.A102T|SPATA2_ENST00000289431.5_Missense_Mutation_p.A239T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	239					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTCCTTGGCCGCCCGCTCG	0.677																																						uc010gie.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(715-717)GCC>ACC		spermatogenesis associated 2							31.0	31.0	31.0					20																	48523004		2201	4297	6498	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523004C>T	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.715G>A	20.37:g.48523004C>T	ENSP00000416799:p.Ala239Thr					SPATA2_uc002xuw.2_Missense_Mutation_p.A239T|SPATA2_uc010zyn.1_Missense_Mutation_p.A102T	p.A239T	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1065	-	Hepatocellular(150;0.133)		239					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.715G>A	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071456	0.76301	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.46451	0.9;0.9;0.87	5.17	5.17	0.71159	.	0.406531	0.24937	N	0.034419	T	0.34919	0.0914	L	0.50333	1.59	0.35253	D	0.778883	P	0.42296	0.775	B	0.39660	0.306	T	0.43310	-0.9399	10	0.29301	T	0.29	-60.6003	8.7336	0.34514	0.2096:0.656:0.1344:0.0	.	239	Q9UM82	SPAT2_HUMAN	T	239;239;102	ENSP00000289431:A239T;ENSP00000416799:A239T;ENSP00000438855:A102T	ENSP00000289431:A239T	A	-	1	0	SPATA2	47956411	0.834000	0.29399	0.981000	0.43875	0.953000	0.61014	1.789000	0.38724	2.674000	0.91012	0.650000	0.86243	GCC		0.677	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		17	35	0	0	0	0	17	35				
OR5H2	79310	broad.mit.edu	37	3	98002593	98002593	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:98002593C>G	ENST00000355273.2	+	1	862	c.862C>G	c.(862-864)Cct>Gct	p.P288A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	288						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(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCATAATTCCTTTGCTAAA	0.318																																						uc003dsj.1		NA																	0				ovary(3)	3						c.(862-864)CCT>GCT		olfactory receptor, family 5, subfamily H,							49.0	47.0	48.0					3																	98002593		2202	4299	6501	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002593C>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.862C>G	3.37:g.98002593C>G	ENSP00000347418:p.Pro288Ala						p.P288A	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	862	+			288			Helical; Name=7; (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.862C>G	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726688	0.30593	.	.	ENSG00000197938	ENST00000355273	T	0.00340	8.04	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001367	T	0.00967	0.0032	M	0.92026	3.265	0.40578	D	0.981364	D	0.89917	1.0	D	0.97110	1.0	T	0.59300	-0.7480	10	0.87932	D	0	.	11.848	0.52395	0.0:1.0:0.0:0.0	.	288	Q8NGV7	OR5H2_HUMAN	A	288	ENSP00000347418:P288A	ENSP00000347418:P288A	P	+	1	0	OR5H2	99485283	0.999000	0.42202	0.093000	0.20910	0.018000	0.09664	6.182000	0.71995	1.698000	0.51180	0.411000	0.27672	CCT		0.318	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			12	46	0	0	0	0	12	46				
COPG1	22820	broad.mit.edu	37	3	128993713	128993713	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:128993713C>T	ENST00000314797.6	+	22	2393	c.2289C>T	c.(2287-2289)caC>caT	p.H763H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	763	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TAGCTGATCACATTCAAAAGG	0.483																																						uc003els.2		NA																	0				ovary(3)|breast(1)	4						c.(2287-2289)CAC>CAT		coatomer protein complex, subunit gamma 1							158.0	144.0	149.0					3																	128993713		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128993713C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.2289C>T	3.37:g.128993713C>T						COPG_uc010htb.2_Silent_p.H669H	p.H763H	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			22	2389	+			763			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.2289C>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	.	9.472	1.095945	0.20552	.	.	ENSG00000181789	ENST00000509889	.	.	.	5.59	3.8	0.43715	.	.	.	.	.	T	0.59715	0.2214	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57177	-0.7856	4	.	.	.	-5.9519	9.5397	0.39244	0.0:0.831:0.0:0.169	.	.	.	.	I	77	.	.	T	+	2	0	COPG	130476403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.867000	0.56047	1.390000	0.46547	0.579000	0.79373	ACA		0.483	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		100	85	0	0	0	0	100	85				
COL6A6	131873	broad.mit.edu	37	3	130292872	130292872	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:130292872A>C	ENST00000358511.6	+	7	3081	c.3050A>C	c.(3049-3051)aAg>aCg	p.K1017T	COL6A6_ENST00000453409.2_Missense_Mutation_p.K1017T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1017	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGACTTCAAGAAAATGAAG	0.408																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3049-3051)AAG>ACG		collagen type VI alpha 6 precursor							79.0	73.0	75.0					3																	130292872		1866	4102	5968	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130292872A>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3050A>C	3.37:g.130292872A>C	ENSP00000351310:p.Lys1017Thr						p.K1017T	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3081	+			1017			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3050A>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	0.149	-1.094028	0.01858	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83250	-1.7;-1.7	4.99	-2.3	0.06785	von Willebrand factor, type A (3);	0.663319	0.14455	N	0.318555	T	0.65059	0.2655	N	0.25094	0.71	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.47861	-0.9084	10	0.19147	T	0.46	.	6.581	0.22594	0.3768:0.2439:0.3793:0.0	.	1017	A6NMZ7	CO6A6_HUMAN	T	1017	ENSP00000351310:K1017T;ENSP00000399236:K1017T	ENSP00000351310:K1017T	K	+	2	0	COL6A6	131775562	0.000000	0.05858	0.836000	0.33094	0.168000	0.22595	-1.706000	0.01895	-0.585000	0.05905	-0.680000	0.03767	AAG		0.408	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		11	47	0	0	0	0	11	47				
TNK2	10188	broad.mit.edu	37	3	195594350	195594350	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:195594350G>C	ENST00000333602.6	-	12	3391	c.2774C>G	c.(2773-2775)aCc>aGc	p.T925S	TNK2_ENST00000381916.2_Missense_Mutation_p.T1003S|TNK2_ENST00000428187.1_Missense_Mutation_p.T957S|TNK2_ENST00000392400.1_Missense_Mutation_p.T925S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	925	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTGTTGTTGGTGGAGAAGTT	0.751																																						uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(2773-2775)ACC>AGC		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						12.0	15.0	14.0					3																	195594350		2080	4179	6259	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195594350G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2774C>G	3.37:g.195594350G>C	ENSP00000329425:p.Thr925Ser					TNK2_uc003fvq.1_Missense_Mutation_p.T332S|TNK2_uc003fvr.1_Missense_Mutation_p.T450S|TNK2_uc003fvs.1_Missense_Mutation_p.T957S|TNK2_uc003fvt.1_Missense_Mutation_p.T1003S|TNK2_uc010hzw.1_RNA	p.T925S	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	3317	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	925	Missing (in Ref. 4; AAH08884).		Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.2774C>G	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	6.917	0.538781	0.13250	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.72282	-0.64;-0.6;3.1;-0.57;-0.64	5.72	2.9	0.33743	.	0.394323	0.28114	N	0.016544	T	0.41236	0.1150	N	0.01576	-0.805	0.80722	D	1	B;B;B;B	0.20368	0.044;0.0;0.0;0.001	B;B;B;B	0.19148	0.024;0.001;0.002;0.002	T	0.31194	-0.9952	10	0.07813	T	0.8	.	16.0241	0.80528	0.0:0.3808:0.6192:0.0	.	925;1003;957;450	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	S	925;1003;492;957;925	ENSP00000329425:T925S;ENSP00000371341:T1003S;ENSP00000398614:T492S;ENSP00000392546:T957S;ENSP00000376201:T925S	ENSP00000329425:T925S	T	-	2	0	TNK2	197078747	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	4.860000	0.62961	0.330000	0.23485	-0.300000	0.09419	ACC		0.751	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		14	12	0	0	0	0	14	12				
LIMCH1	22998	broad.mit.edu	37	4	41699182	41699182	+	Missense_Mutation	SNP	G	G	T	rs142431467		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:41699182G>T	ENST00000313860.7	+	27	3286	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W	LIMCH1_ENST00000513024.1_Missense_Mutation_p.G905W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G885W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G1064W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G911W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G897W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G1051W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G1052W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1462W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G975W|LIMCH1_ENST00000515785.1_3'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1078					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.G1462R(1)|p.G1078R(1)|p.G1462W(1)|p.G1078W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACAGGTGCCGGGCAGCCTAC	0.453																																						uc003gvu.3		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)|skin(1)	4						c.(3232-3234)GGG>TGG		LIM and calponin homology domains 1 isoform a							176.0	163.0	167.0					4																	41699182		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41699182G>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.3232G>T	4.37:g.41699182G>T	ENSP00000316891:p.Gly1078Trp					LIMCH1_uc003gvv.3_Missense_Mutation_p.G1052W|LIMCH1_uc003gvw.3_Missense_Mutation_p.G1051W|LIMCH1_uc003gvx.3_Missense_Mutation_p.G1064W|LIMCH1_uc003gwe.3_Missense_Mutation_p.G975W|LIMCH1_uc003gvy.3_Missense_Mutation_p.G880W|LIMCH1_uc003gwa.3_Missense_Mutation_p.G892W|LIMCH1_uc003gvz.3_Missense_Mutation_p.G1462W|LIMCH1_uc011byu.1_Missense_Mutation_p.G911W|LIMCH1_uc003gwc.3_Missense_Mutation_p.G897W|LIMCH1_uc003gwd.3_Missense_Mutation_p.G885W|LIMCH1_uc011byv.1_Missense_Mutation_p.G828W|LIMCH1_uc011byw.1_Missense_Mutation_p.G351W|LIMCH1_uc010ifv.2_RNA	p.G1078W	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			27	3286	+			1078					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.3232G>T	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241099	0.58995	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	T;T;T;T;T;T;T;T;T;T;T;T	0.60040	0.41;1.08;1.04;0.86;0.5;0.97;0.3;0.48;0.32;0.22;0.43;0.33	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.994;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	T	0.75178	-0.3409	10	0.87932	D	0	-1.1442	18.4085	0.90542	0.0:0.0:1.0:0.0	.	892;828;911;975;885;897;1462;905;1064;1051;1052;1078	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	W	905;1051;1052;1078;975;1064;1462;892;1461;892;911;897;885;404	ENSP00000425222:G905W;ENSP00000424825:G1051W;ENSP00000424645:G1052W;ENSP00000316891:G1078W;ENSP00000427045:G975W;ENSP00000424437:G1064W;ENSP00000425631:G1462W;ENSP00000421242:G892W;ENSP00000426334:G892W;ENSP00000422864:G911W;ENSP00000379840:G897W;ENSP00000371172:G885W	ENSP00000316891:G1078W	G	+	1	0	LIMCH1	41393939	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	7.384000	0.79751	2.778000	0.95560	0.655000	0.94253	GGG		0.453	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		21	71	1	0	7.88e-20	2.81e-19	21	71				
EPHA5	2044	broad.mit.edu	37	4	66361109	66361109	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:66361109T>C	ENST00000273854.3	-	4	1663	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	EPHA5_ENST00000511294.1_Missense_Mutation_p.T355A|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T355A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	355					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCTTACTTGTGCATGCCATT	0.438										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1063-1065)ACA>GCA		ephrin receptor EphA5 isoform a precursor							157.0	154.0	155.0					4																	66361109		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66361109T>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1063A>G	4.37:g.66361109T>C	ENSP00000273854:p.Thr355Ala	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.T286A|EPHA5_uc003hcz.2_Missense_Mutation_p.T355A|EPHA5_uc011cah.1_Missense_Mutation_p.T355A|EPHA5_uc011cai.1_Missense_Mutation_p.T355A|EPHA5_uc003hda.2_Missense_Mutation_p.T355A	p.T355A	NM_004439	NP_004430	P54756	EPHA5_HUMAN			4	1256	-			355			Extracellular (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1063A>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803780	0.70682	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97480	-0.97;-0.92;-4.4	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000036	D	0.97745	0.9260	M	0.89030	3	0.58432	D	0.999996	B;P;B;B	0.39903	0.006;0.694;0.011;0.409	B;P;B;B	0.45506	0.008;0.483;0.019;0.174	D	0.98496	1.0612	10	0.87932	D	0	.	16.2231	0.82269	0.0:0.0:0.0:1.0	.	355;355;355;355	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	355	ENSP00000273854:T355A;ENSP00000346899:T355A;ENSP00000427638:T355A	ENSP00000273854:T355A	T	-	1	0	EPHA5	66043704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.608000	0.82898	2.235000	0.73313	0.377000	0.23210	ACA		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		62	87	0	0	0	0	62	87				
ANTXR2	118429	broad.mit.edu	37	4	80993706	80993706	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:80993706C>T	ENST00000307333.7	-	1	11	c.9G>A	c.(7-9)gcG>gcA	p.A3A	ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000403729.2_Silent_p.A3A|ANTXR2_ENST00000295465.4_Silent_p.A3A|ANTXR2_ENST00000346652.6_Silent_p.A3A	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	3					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGGACCGCTCCGCCACCATCC	0.746									Juvenile Hyaline Fibromatosis																													uc003hlz.3		NA																	0				ovary(1)	1						c.(7-9)GCG>GCA		anthrax toxin receptor 2 isoform 2							5.0	6.0	6.0					4																	80993706		1721	3754	5475	SO:0001819	synonymous_variant	118429	Juvenile_Hyaline_Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80993706C>T	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.9G>A	4.37:g.80993706C>T						ANTXR2_uc003hly.3_Silent_p.A3A|ANTXR2_uc003hlx.1_5'Flank|ANTXR2_uc010ijn.2_Silent_p.A3A	p.A3A	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN			1	772	-			3					Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	c.9G>A	CCDS47086.1																																																																																				0.746	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		5	5	0	0	0	0	5	5				
UNC5C	8633	broad.mit.edu	37	4	96141216	96141216	+	Missense_Mutation	SNP	C	C	T	rs150089453		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:96141216C>T	ENST00000453304.1	-	8	1568	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R426H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	407					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCAAAGTCACGATGATTCTT	0.458																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1219-1221)CGT>CAT		unc5C precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	123.0	130.0		1220	5.6	1.0	4	dbSNP_134	130	0,8600	1.2+/-3.3	0,0,4300	no	missense	UNC5C	NM_003728.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	407/932	96141216	1,13005	2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96141216C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1220G>A	4.37:g.96141216C>T	ENSP00000406022:p.Arg407His					UNC5C_uc010ilc.1_Missense_Mutation_p.R426H|UNC5C_uc003htq.2_Missense_Mutation_p.R426H	p.R407H	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	8	1374	-		Hepatocellular(203;0.114)	407			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1220G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533953	0.85812	2.27E-4	0.0	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.59083	0.61;0.29;0.31	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.83953	2.67	0.80722	D	1	B;D;D	0.89917	0.059;1.0;1.0	B;D;D	0.78314	0.021;0.991;0.991	T	0.74691	-0.3580	10	0.25106	T	0.35	.	19.6667	0.95895	0.0:1.0:0.0:0.0	.	407;426;407	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	H	407;366;426;426	ENSP00000406022:R407H;ENSP00000426924:R426H;ENSP00000426153:R426H	ENSP00000328673:R366H	R	-	2	0	UNC5C	96360239	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.086000	0.71352	2.652000	0.90054	0.655000	0.94253	CGT		0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		20	44	0	0	0	0	20	44				
FAT1	2195	broad.mit.edu	37	4	187584693	187584693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:187584693G>A	ENST00000441802.2	-	3	3549	c.3340C>T	c.(3340-3342)Cag>Tag	p.Q1114*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1114	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGACACCCTGATCGGTTGCA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3340-3342)CAG>TAG		FAT tumor suppressor 1 precursor							109.0	108.0	108.0					4																	187584693		1977	4176	6153	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187584693G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3340C>T	4.37:g.187584693G>A	ENSP00000406229:p.Gln1114*	HNSCC(5;0.00058)					p.Q1114*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			3	3528	-			1114			Extracellular (Potential).|Cadherin 9.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3340C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	44	11.114756	0.99518	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.12	5.12	0.69794	.	0.117006	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.6926	0.62556	0.0:0.0:0.8458:0.1542	.	.	.	.	X	1114	.	ENSP00000260147:Q1114X	Q	-	1	0	FAT1	187821687	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	7.669000	0.83911	2.668000	0.90789	0.591000	0.81541	CAG		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		27	53	0	0	0	0	27	53				
RAB3C	115827	broad.mit.edu	37	5	57913562	57913562	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:57913562C>A	ENST00000282878.4	+	2	286	c.117C>A	c.(115-117)agC>agA	p.S39R		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	39					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TCGGCAATAGCAGTGTGGGGA	0.428																																						uc003jrp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(115-117)AGC>AGA		RAB3C, member RAS oncogene family							98.0	89.0	92.0					5																	57913562		2203	4300	6503	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913562C>A	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.117C>A	5.37:g.57913562C>A	ENSP00000282878:p.Ser39Arg						p.S39R	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	214	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	39			GTP (By similarity).			Missense_Mutation	SNP	ENST00000282878.4	37	c.117C>A	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550073	0.86127	.	.	ENSG00000152932	ENST00000282878	T	0.78364	-1.17	5.7	4.83	0.62350	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91317	0.5079	10	0.87932	D	0	-29.2359	14.4336	0.67266	0.0:0.9295:0.0:0.0705	.	39	Q96E17	RAB3C_HUMAN	R	39	ENSP00000282878:S39R	ENSP00000282878:S39R	S	+	3	2	RAB3C	57949319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.958000	0.63660	1.418000	0.47098	0.655000	0.94253	AGC		0.428	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		12	41	1	0	0.000978159	0.00298907	12	41				
ANKRD32	84250	broad.mit.edu	37	5	94027884	94027884	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:94027884T>C	ENST00000265140.5	+	20	3037	c.2618T>C	c.(2617-2619)gTg>gCg	p.V873A		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	873						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCACTCAAGTGGACGGGGTG	0.493																																						uc003kkr.3		NA																	0				ovary(2)	2						c.(2617-2619)GTG>GCG		ankyrin repeat domain 32							143.0	129.0	134.0					5																	94027884		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94027884T>C	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2618T>C	5.37:g.94027884T>C	ENSP00000265140:p.Val873Ala					ANKRD32_uc003kks.2_Missense_Mutation_p.V237A	p.V873A	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	20	2698	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	873					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2618T>C	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977105	0.74360	.	.	ENSG00000133302	ENST00000265140	T	0.40756	1.02	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.061905	0.64402	D	0.000004	T	0.45236	0.1332	N	0.10664	0.02	0.49051	D	0.999742	D	0.63046	0.992	D	0.72338	0.977	T	0.56329	-0.7997	10	0.59425	D	0.04	.	15.8043	0.78481	0.0:0.0:0.0:1.0	.	873	Q9BQI6	ANR32_HUMAN	A	873	ENSP00000265140:V873A	ENSP00000265140:V873A	V	+	2	0	ANKRD32	94053640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.707000	0.68370	2.192000	0.70111	0.528000	0.53228	GTG		0.493	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		23	61	0	0	0	0	23	61				
SMAD5	4090	broad.mit.edu	37	5	135513140	135513140	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:135513140C>T	ENST00000545279.1	+	9	1727	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.P456L	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	457	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGGCTCCCCTCTGAACCCC	0.398																																						uc003lbj.1		NA																	0					0						c.(1369-1371)CCT>CTT		SMAD family member 5							82.0	89.0	87.0					5																	135513140		2099	4268	6367	SO:0001583	missense	4090				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr5:135513140C>T	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.1367C>T	5.37:g.135513140C>T	ENSP00000441954:p.Pro456Leu					SMAD5_uc003lbk.1_Missense_Mutation_p.P457L|SMAD5_uc003lbl.1_Missense_Mutation_p.P457L	p.P457L	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		11	1814	+			457			MH2.		O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37	c.1370C>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.746218	0.89663	.	.	ENSG00000113658	ENST00000545279;ENST00000545620	D;D	0.94330	-3.4;-3.4	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96959	0.9007	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.96991	0.9722	9	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	456	F5GWU7	.	L	456	ENSP00000441954:P456L;ENSP00000446474:P456L	ENSP00000441954:P456L	P	+	2	0	SMAD5	135541039	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	CCT		0.398	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903		5	12	0	0	0	0	5	12				
PCDHGA9	56107	broad.mit.edu	37	5	140784241	140784241	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:140784241T>C	ENST00000573521.1	+	1	1722	c.1722T>C	c.(1720-1722)ggT>ggC	p.G574G	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTACTGGTGTGGAGCTGG	0.562																																						uc003lkh.1		NA																	0					0						c.(1720-1722)GGT>GGC		protocadherin gamma subfamily A, 9 isoform 1							121.0	135.0	130.0					5																	140784241		2195	4300	6495	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784241T>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1722T>C	5.37:g.140784241T>C						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_uc011dax.1_Silent_p.G574G	p.G574G	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+			574			Cadherin 6.|Extracellular (Potential).		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.1722T>C	CCDS58981.1																																																																																				0.562	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		43	114	0	0	0	0	43	114				
CSNK1A1	1452	broad.mit.edu	37	5	148899953	148899953	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:148899953T>C	ENST00000377843.2	-	4	837		c.e4-2		CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000261798.5_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACTGATCATCTGGAAAAAAAA	0.303																																					Colon(5;64 69 1309 10383)	uc003lqx.1		NA																	0				breast(1)	1						c.e4-1		casein kinase 1, alpha 1 isoform 2							61.0	62.0	61.0					5																	148899953		2085	4239	6324	SO:0001630	splice_region_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148899953T>C	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.358-2A>G	5.37:g.148899953T>C						CSNK1A1_uc011dcb.1_Splice_Site_p.M1_splice|CSNK1A1_uc011dcc.1_Splice_Site_p.M31_splice|CSNK1A1_uc003lqv.1_Splice_Site_p.M31_splice|CSNK1A1_uc003lqw.1_Splice_Site_p.M120_splice|CSNK1A1_uc003lqy.1_Splice_Site_p.M120_splice|CSNK1A1_uc010jha.1_Splice_Site_p.M120_splice	p.M120_splice	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	4	838	-								D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Splice_Site	SNP	ENST00000377843.2	37	c.358_splice	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176736	0.78564	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0436	0.80701	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK1A1	148880146	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	.		0.303	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892	Intron	20	28	0	0	0	0	20	28				
GALNT10	55568	broad.mit.edu	37	5	153789255	153789255	+	Missense_Mutation	SNP	C	C	T	rs147745456		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:153789255C>T	ENST00000297107.6	+	9	1456	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.T113M|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.T378M	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	440					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggTTTATGACGAAGATAGCC	0.597																																						uc003lvh.2		NA																	0				skin(2)	2						c.(1318-1320)ACG>ATG		GalNAc transferase 10 isoform a		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	98.0	104.0	102.0		1319	3.3	1.0	5	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GALNT10	NM_198321.3	81	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	440/604	153789255	3,13003	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789255C>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1319C>T	5.37:g.153789255C>T	ENSP00000297107:p.Thr440Met					GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.T281M|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.T111M	p.T440M	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1451	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	440			Lumenal (Potential).		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1319C>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005767	0.35415	2.27E-4	2.33E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.68903	-0.36;-0.36;1.56	5.02	3.26	0.37387	.	0.423542	0.27016	N	0.021348	T	0.57242	0.2040	L	0.56199	1.76	0.31300	N	0.688368	B;D;P	0.59767	0.025;0.986;0.88	B;B;B	0.42959	0.017;0.403;0.161	T	0.64542	-0.6383	10	0.66056	D	0.02	.	5.1753	0.15131	0.2638:0.568:0.0:0.1682	.	378;111;440	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	M	440;378;113	ENSP00000297107:T440M;ENSP00000366889:T378M;ENSP00000366885:T113M	ENSP00000297107:T440M	T	+	2	0	GALNT10	153769448	0.000000	0.05858	0.974000	0.42286	0.935000	0.57460	-0.251000	0.08818	0.716000	0.32124	-0.254000	0.11334	ACG		0.597	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		35	81	0	0	0	0	35	81				
DOCK2	1794	broad.mit.edu	37	5	169474561	169474561	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:169474561C>A	ENST00000256935.8	+	40	4094	c.4014C>A	c.(4012-4014)ccC>ccA	p.P1338P	DOCK2_ENST00000520908.1_Silent_p.P830P|DOCK2_ENST00000540750.1_Silent_p.P399P|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1338	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCAGGCCCAAACCAGACT	0.498																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(4012-4014)CCC>CCA		dedicator of cytokinesis 2							99.0	96.0	97.0					5																	169474561		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169474561C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4014C>A	5.37:g.169474561C>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.P830P	p.P1338P	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4094	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1338			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.4014C>A	CCDS4371.1																																																																																				0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		10	45	1	0	0.000673444	0.00207724	10	45				
SH3PXD2B	285590	broad.mit.edu	37	5	171809084	171809084	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:171809084C>A	ENST00000311601.5	-	5	527	c.357G>T	c.(355-357)ctG>ctT	p.L119L	SH3PXD2B_ENST00000519643.1_Silent_p.L119L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	119	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAAGAACTGCAGCACCTCAT	0.582																																						uc003mbr.2		NA																	0				ovary(3)|skin(1)	4						c.(355-357)CTG>CTT		SH3 and PX domains 2B							31.0	32.0	32.0					5																	171809084		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171809084C>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.357G>T	5.37:g.171809084C>A						SH3PXD2B_uc003mbs.1_Silent_p.L119L	p.L119L	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	528	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	119			PX.		B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.357G>T	CCDS34291.1																																																																																				0.582	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		9	14	1	0	0.000978159	0.00298907	9	14				
RREB1	6239	broad.mit.edu	37	6	7229324	7229324	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:7229324T>G	ENST00000349384.6	+	10	1306	c.992T>G	c.(991-993)cTg>cGg	p.L331R	RREB1_ENST00000379933.3_Missense_Mutation_p.L331R|RREB1_ENST00000334984.6_Missense_Mutation_p.L331R|RREB1_ENST00000379938.2_Missense_Mutation_p.L331R	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	331					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGCTCACTGGCTCTGCAC	0.607																																						uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(991-993)CTG>CGG		ras responsive element binding protein 1 isoform							57.0	48.0	51.0					6																	7229324		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229324T>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.992T>G	6.37:g.7229324T>G	ENSP00000305560:p.Leu331Arg					RREB1_uc003mxb.2_Missense_Mutation_p.L331R|RREB1_uc010jnx.2_Missense_Mutation_p.L331R	p.L331R	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1382	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	331			C2H2-type 6.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.992T>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410605	0.42715	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.43747	D	0.000525	D	0.83252	0.5214	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86510	0.1809	10	0.87932	D	0	-47.2392	15.9825	0.80121	0.0:0.0:0.0:1.0	.	331;331;331	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	R	331	ENSP00000369265:L331R;ENSP00000369270:L331R;ENSP00000305560:L331R;ENSP00000335574:L331R;ENSP00000419511:L331R	ENSP00000335574:L331R	L	+	2	0	RREB1	7174323	1.000000	0.71417	0.078000	0.20375	0.150000	0.21749	7.859000	0.86982	2.180000	0.69256	0.379000	0.24179	CTG		0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			16	21	0	0	0	0	16	21				
ZNRD1	30834	broad.mit.edu	37	6	30029436	30029436	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:30029436C>A	ENST00000332435.5	+	1	406	c.135C>A	c.(133-135)atC>atA	p.I45I	ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000431012.1_RNA|ZNRD1_ENST00000376782.2_Silent_p.I45I|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1_ENST00000376785.2_Silent_p.I45I|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000422224.1_RNA|ZNRD1_ENST00000359374.4_Silent_p.I45I|ZNRD1-AS1_ENST00000452229.1_RNA	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	45					nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363)	DNA-directed RNA polymerase I complex (GO:0005736)	DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										GCTTCAACATCAACGTTCGGG	0.602																																						uc003noz.2		NA																	0					0						c.(133-135)ATC>ATA		zinc ribbon domain containing 1							74.0	79.0	77.0					6																	30029436		1508	2709	4217	SO:0001819	synonymous_variant	30834					nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding	g.chr6:30029436C>A	AF024617	CCDS4670.1	6p21	2011-02-18	2006-04-04		ENSG00000066379	ENSG00000066379			13182	protein-coding gene	gene with protein product		607525	"""zinc ribbon domain containing, 1"""			8938444, 10662553	Standard	NM_170783		Approved	hZR14, HTEX-6, tctex-6, RPA12	uc003npa.3	Q9P1U0	OTTHUMG00000031149	ENST00000332435.5:c.135C>A	6.37:g.30029436C>A						NCRNA00171_uc011dme.1_5'Flank|NCRNA00171_uc003nox.1_5'Flank|NCRNA00171_uc003rto.2_5'Flank|ZNRD1_uc003npa.2_Silent_p.I45I	p.I45I	NM_014596	NP_055411	Q9P1U0	RPA12_HUMAN			2	285	+			45						Silent	SNP	ENST00000332435.5	37	c.135C>A	CCDS4670.1																																																																																				0.602	ZNRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076272.2			14	68	1	0	6.32e-08	2.08e-07	14	68				
CSNK2B	1460	broad.mit.edu	37	6	31636415	31636415	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:31636415G>A	ENST00000375882.2	+	4	431	c.275G>A	c.(274-276)cGt>cAt	p.R92H	CSNK2B_ENST00000375866.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R111H|GPANK1_ENST00000375900.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R92H|LY6G5B_ENST00000375864.4_5'Flank|GPANK1_ENST00000375906.1_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.R92H|LY6G5B_ENST00000409525.1_5'Flank|GPANK1_ENST00000375895.2_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	92					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CTTACCAACCGTGGCATCGCC	0.537																																						uc003nvr.1		NA																	0					0						c.(274-276)CGT>CAT		casein kinase 2, beta polypeptide							141.0	103.0	117.0					6																	31636415		1511	2709	4220	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31636415G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.275G>A	6.37:g.31636415G>A	ENSP00000365042:p.Arg92His					BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc003nvs.1_Missense_Mutation_p.R92H|LY6G5B_uc003nvt.1_5'Flank	p.R92H	NM_001320	NP_001311	P67870	CSK2B_HUMAN			4	615	+			92					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.275G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701763	0.68501	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.9	4.12	0.48240	Casein kinase II, regulatory subunit, alpha-helical (1);	0.059282	0.64402	D	0.000003	T	0.31451	0.0797	M	0.68728	2.09	0.58432	D	0.999997	P;B	0.35745	0.518;0.171	B;B	0.31016	0.123;0.096	T	0.29882	-0.9997	8	0.72032	D	0.01	-0.7443	10.071	0.42332	0.0752:0.1379:0.7869:0.0	.	92;92	Q5SRQ3;P67870	.;CSK2B_HUMAN	H	111;92;92;92;92	.	ENSP00000365025:R92H	R	+	2	0	CSNK2B	31744394	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.233000	0.95337	0.836000	0.34901	0.591000	0.81541	CGT		0.537	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		21	35	0	0	0	0	21	35				
KIAA1919	91749	broad.mit.edu	37	6	111583600	111583600	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:111583600C>A	ENST00000368847.4	+	2	521	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	56					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GATTTCTTGTCGATGTCATGA	0.348																																						uc003puv.3		NA																	0				ovary(3)	3						c.(166-168)GTC>GTA		sodium-dependent glucose transporter 1							380.0	361.0	367.0					6																	111583600		2203	4300	6503	SO:0001819	synonymous_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583600C>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.168C>A	6.37:g.111583600C>A							p.V56V	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	590	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	56			Helical; (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	ENST00000368847.4	37	c.168C>A	CCDS5090.1																																																																																				0.348	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		39	85	1	0	1.16e-17	4.06e-17	39	85				
RAC1	5879	broad.mit.edu	37	7	6426850	6426850	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:6426850G>A	ENST00000348035.4	+	2	256	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.G15S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	15					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TAGAGCTGTAGGTAAAACTTG	0.318																																						uc003spx.2		NA																	0				lung(2)	2						c.(43-45)GGT>AGT		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						115.0	114.0	115.0					7																	6426850		2203	4299	6502	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6426850G>A	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.43G>A	7.37:g.6426850G>A	ENSP00000258737:p.Gly15Ser					RAC1_uc003spw.2_Missense_Mutation_p.G15S	p.G15S	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	2	284	+		Ovarian(82;0.0776)	15			GTP (By similarity).		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.43G>A	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730934	0.96856	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.97772	-4.53;-4.53	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.99977	5.165	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.85130	0.997;0.996	D	0.97383	0.9984	10	0.72032	D	0.01	.	20.4702	0.99162	0.0:0.0:1.0:0.0	.	15;15	P63000;A4D2P0	RAC1_HUMAN;.	S	15	ENSP00000258737:G15S;ENSP00000348461:G15S	ENSP00000258737:G15S	G	+	1	0	RAC1	6393375	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.611000	0.98342	2.937000	0.99478	0.650000	0.86243	GGT		0.318	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		23	70	0	0	0	0	23	70				
CPVL	54504	broad.mit.edu	37	7	29035468	29035468	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:29035468G>A	ENST00000409850.1	-	17	1997	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	CPVL_ENST00000396276.3_Missense_Mutation_p.P451S|CPVL_ENST00000265394.5_Missense_Mutation_p.P451S|CTB-113D17.1_ENST00000609389.1_RNA			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	451						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGTCATAGGGTAAAATATGT	0.333																																						uc003szv.2		NA																	0				ovary(2)	2						c.(1351-1353)CCC>TCC		serine carboxypeptidase vitellogenic-like							69.0	65.0	66.0					7																	29035468		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29035468G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1351C>T	7.37:g.29035468G>A	ENSP00000387164:p.Pro451Ser					CPVL_uc003szw.2_Missense_Mutation_p.P451S|CPVL_uc003szx.2_Missense_Mutation_p.P451S	p.P451S	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			13	1470	-			451					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1351C>T	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.558568|4.558568	0.86231|0.86231	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850|ENST00000432534	D;D;D;D|.	0.91521|.	-2.86;-2.86;-2.86;-2.86|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88055|0.88055	0.6334|0.6334	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90899|0.90899	0.4767|0.4767	10|5	0.87932|.	D|.	0|.	-17.3677|-17.3677	17.5889|17.5889	0.87989|0.87989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	451|.	Q9H3G5|.	CPVL_HUMAN|.	S|I	451;451;116;451|154	ENSP00000265394:P451S;ENSP00000379572:P451S;ENSP00000403580:P116S;ENSP00000387164:P451S|.	ENSP00000265394:P451S|.	P|T	-|-	1|2	0|0	CPVL|CPVL	29001993|29001993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.352000|6.352000	0.73027|0.73027	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.333	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		14	21	0	0	0	0	14	21				
LMTK2	22853	broad.mit.edu	37	7	97821070	97821070	+	Silent	SNP	G	G	A	rs199903450	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:97821070G>A	ENST00000297293.5	+	11	1586	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	431					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCTGAAGCCGAACACAAACA	0.577													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17139	0.0		0.0	False		,,,				2504	0.0					uc003upd.1		NA																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(1291-1293)CCG>CCA		lemur tyrosine kinase 2 precursor		G		8,4398	14.3+/-33.2	0,8,2195	101.0	86.0	91.0		1293	-10.8	0.0	7		91	0,8600		0,0,4300	yes	coding-synonymous	LMTK2	NM_014916.3		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		431/1504	97821070	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821070G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1293G>A	7.37:g.97821070G>A							p.P431P	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	1586	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		431					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.1293G>A	CCDS5654.1																																																																																				0.577	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		14	40	0	0	0	0	14	40				
FSCN3	29999	broad.mit.edu	37	7	127235813	127235813	+	Missense_Mutation	SNP	G	G	C	rs150163324		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:127235813G>C	ENST00000265825.5	+	2	816	c.597G>C	c.(595-597)ttG>ttC	p.L199F	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.L65F	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	199						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACCACTTCTTGTCCCATGTAG	0.562																																						uc003vmd.1		NA																	0				ovary(1)	1						c.(595-597)TTG>TTC		fascin 3							180.0	145.0	157.0					7																	127235813		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235813G>C		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.597G>C	7.37:g.127235813G>C	ENSP00000265825:p.Leu199Phe					FSCN3_uc003vmc.1_Missense_Mutation_p.L154F|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.L65F|FSCN3_uc010llc.1_Missense_Mutation_p.L199F	p.L199F	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			2	816	+			199					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.597G>C	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323411	0.60634	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.69435	0.5;-0.4	5.44	3.52	0.40303	Actin cross-linking (1);	0.141093	0.31709	N	0.007183	T	0.76849	0.4045	M	0.69823	2.125	0.40805	D	0.983374	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.989	T	0.78303	-0.2256	10	0.87932	D	0	-18.7878	7.2828	0.26320	0.0906:0.1694:0.74:0.0	.	65;199	B4DU68;Q9NQT6	.;FSCN3_HUMAN	F	199;65	ENSP00000265825:L199F;ENSP00000412243:L65F	ENSP00000265825:L199F	L	+	3	2	FSCN3	127023049	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.602000	0.36783	1.434000	0.47414	-0.143000	0.13931	TTG		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		21	61	0	0	0	0	21	61				
C7orf49	78996	broad.mit.edu	37	7	134853603	134853603	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:134853603C>G	ENST00000393114.3	-	2	253	c.72G>C	c.(70-72)aaG>aaC	p.K24N	RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000430372.1_Missense_Mutation_p.E10Q|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000459937.1_5'UTR			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	24						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTGCCACATTCTTTGTAGCCA	0.532											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vsl.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(70-72)AAG>AAC		modulator of retrovirus infection							149.0	145.0	147.0					7																	134853603		2203	4300	6503	SO:0001583	missense	78996					cytoplasm		g.chr7:134853603C>G	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.72G>C	7.37:g.134853603C>G	ENSP00000376823:p.Lys24Asn		OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1613	C7orf49_uc003vsh.2_Missense_Mutation_p.E10Q|C7orf49_uc003vsj.2_5'Flank|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.E10Q|C7orf49_uc003vso.2_Intron	p.K24N	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN			2	339	-			24					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.72G>C	CCDS5838.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.633|8.633	0.894130|0.894130	0.17613|0.17613	.|.	.|.	ENSG00000122783|ENSG00000122783	ENST00000430372|ENST00000393114	.|.	.|.	.|.	4.25|4.25	1.34|1.34	0.21922|0.21922	.|.	.|.	.|.	.|.	.|.	T|T	0.36908|0.36908	0.0984|0.0984	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D|D	0.57257|0.67145	0.979|0.996	P|P	0.51193|0.57620	0.662|0.824	T|T	0.14035|0.14035	-1.0487|-1.0487	8|8	0.87932|0.62326	D|D	0|0.03	-8.5207|-8.5207	6.1329|6.1329	0.20215|0.20215	0.0:0.6472:0.0:0.3528|0.0:0.6472:0.0:0.3528	.|.	10|24	C9JKC7|Q9BWK5	.|MRI_HUMAN	Q|N	10|24	.|.	ENSP00000389941:E10Q|ENSP00000376823:K24N	E|K	-|-	1|3	0|2	C7orf49|C7orf49	134504143|134504143	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.009000|0.009000	0.06853|0.06853	0.135000|0.135000	0.15952|0.15952	0.432000|0.432000	0.26286|0.26286	0.462000|0.462000	0.41574|0.41574	GAA|AAG		0.532	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		28	134	0	0	0	0	28	134				
FGFR1	2260	broad.mit.edu	37	8	38283759	38283759	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:38283759C>T	ENST00000447712.2	-	6	1567	c.626G>A	c.(625-627)cGt>cAt	p.R209H	FGFR1_ENST00000356207.5_Missense_Mutation_p.R120H|FGFR1_ENST00000532791.1_Missense_Mutation_p.R209H|FGFR1_ENST00000341462.5_Missense_Mutation_p.R210H|FGFR1_ENST00000397108.4_Missense_Mutation_p.R207H|FGFR1_ENST00000425967.3_Missense_Mutation_p.R240H|FGFR1_ENST00000326324.6_Missense_Mutation_p.R118H|FGFR1_ENST00000335922.5_Missense_Mutation_p.R201H|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397091.5_Missense_Mutation_p.R207H|FGFR1_ENST00000397113.2_Missense_Mutation_p.R207H|FGFR1_ENST00000397103.1_Missense_Mutation_p.R118H	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	209	Ig-like C2-type 2.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGTGGCATAACGGACCTGAGG	0.542		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		0				lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(625-627)CGT>CAT		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						197.0	184.0	189.0					8																	38283759		2005	4177	6182	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38283759C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.626G>A	8.37:g.38283759C>T	ENSP00000400162:p.Arg209His					FGFR1_uc011lbo.1_Missense_Mutation_p.R207H|FGFR1_uc011lbp.1_Missense_Mutation_p.R120H|FGFR1_uc011lbq.1_Missense_Mutation_p.R118H|FGFR1_uc010lwk.2_Missense_Mutation_p.R201H|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.R49H|FGFR1_uc011lbt.1_Missense_Mutation_p.R118H|FGFR1_uc011lbu.1_Missense_Mutation_p.R240H|FGFR1_uc011lbv.1_Missense_Mutation_p.R207H|FGFR1_uc011lbw.1_Missense_Mutation_p.R120H|FGFR1_uc011lbx.1_Missense_Mutation_p.R120H|FGFR1_uc003xlv.2_Missense_Mutation_p.R120H|FGFR1_uc003xlu.2_Missense_Mutation_p.R118H|FGFR1_uc003xlw.1_RNA	p.R209H	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		6	1568	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	209			Extracellular (Potential).|Ig-like C2-type 2.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.626G>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	34	5.383334	0.95967	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000533668;ENST00000525001;ENST00000526742;ENST00000529552	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.935;1.0;1.0;0.981;0.935;0.999;0.999;0.997;0.988;0.954;0.998	D	0.86249	0.1648	10	0.87932	D	0	.	19.5927	0.95522	0.0:1.0:0.0:0.0	.	120;120;207;240;118;118;120;209;201;120;118;209	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	H	207;240;209;210;209;209;207;120;201;118;118;207;210;49;209;118;120	ENSP00000380280:R207H;ENSP00000393312:R240H;ENSP00000400162:R209H;ENSP00000340636:R210H;ENSP00000432972:R209H;ENSP00000380302:R207H;ENSP00000348537:R120H;ENSP00000337247:R201H;ENSP00000327229:R118H;ENSP00000380292:R118H;ENSP00000380297:R207H;ENSP00000434869:R49H;ENSP00000434712:R209H;ENSP00000433569:R118H;ENSP00000435283:R120H	ENSP00000311337:R209H	R	-	2	0	FGFR1	38402916	1.000000	0.71417	0.948000	0.38648	0.869000	0.49853	7.422000	0.80217	2.737000	0.93849	0.563000	0.77884	CGT		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				49	143	0	0	0	0	49	143				
ADAM2	2515	broad.mit.edu	37	8	39624564	39624564	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:39624564T>C	ENST00000265708.4	-	14	1415		c.e14-2		ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site|ADAM2_ENST00000521880.1_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGACATAAACTGATGGGATGA	0.333																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.e14-1		ADAM metallopeptidase domain 2 proprotein							114.0	106.0	109.0					8																	39624564		2203	4300	6503	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624564T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1312-2A>G	8.37:g.39624564T>C						ADAM2_uc003xnk.2_Splice_Site_p.F419_splice|ADAM2_uc011lck.1_Splice_Site_p.F438_splice|ADAM2_uc003xnl.2_Splice_Site_p.F312_splice	p.F438_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1387	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)						P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.1312_splice	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	8.592	0.884869	0.17540	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0824	0.48068	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM2	39743721	1.000000	0.71417	0.852000	0.33557	0.005000	0.04900	4.574000	0.60900	1.924000	0.55735	0.533000	0.62120	.		0.333	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Intron	31	60	0	0	0	0	31	60				
ST18	9705	broad.mit.edu	37	8	53055565	53055565	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:53055565T>A	ENST00000276480.7	-	17	2776	c.2093A>T	c.(2092-2094)aAg>aTg	p.K698M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	698					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGAAACTTTTTTTCCTC	0.428																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(2092-2094)AAG>ATG		suppression of tumorigenicity 18							108.0	106.0	107.0					8																	53055565		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53055565T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2093A>T	8.37:g.53055565T>A	ENSP00000276480:p.Lys698Met					ST18_uc011ldq.1_Missense_Mutation_p.K345M|ST18_uc011ldr.1_Missense_Mutation_p.K663M|ST18_uc011lds.1_Missense_Mutation_p.K603M|ST18_uc003xra.2_Missense_Mutation_p.K698M	p.K698M	NM_014682	NP_055497	O60284	ST18_HUMAN			12	2249	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	698					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2093A>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857455	0.71834	.	.	ENSG00000147488	ENST00000276480	T	0.50813	0.73	5.33	5.33	0.75918	Myelin transcription factor 1 (1);	0.149321	0.64402	D	0.000013	T	0.68577	0.3016	M	0.74881	2.28	0.43688	D	0.996138	D	0.89917	1.0	D	0.75484	0.986	T	0.72899	-0.4152	10	0.72032	D	0.01	-23.8502	15.3092	0.74016	0.0:0.0:0.0:1.0	.	698	O60284	ST18_HUMAN	M	698	ENSP00000276480:K698M	ENSP00000276480:K698M	K	-	2	0	ST18	53218118	1.000000	0.71417	0.991000	0.47740	0.844000	0.47949	4.275000	0.58927	2.028000	0.59812	0.528000	0.53228	AAG		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			20	53	0	0	0	0	20	53				
GLI4	2738	broad.mit.edu	37	8	144358450	144358450	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:144358450C>T	ENST00000523522.1	+	3	646	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.R203C|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	203					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAAGCACCAGCGCATCCACAC	0.687																																						uc003yxx.2		NA																	0					0						c.(607-609)CGC>TGC		GLI-Kruppel family member GLI4							18.0	20.0	19.0					8																	144358450		2198	4291	6489	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358450C>T		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.607C>T	8.37:g.144358450C>T	ENSP00000430987:p.Arg203Cys					ZFP41_uc003yxv.2_RNA	p.R203C	NM_138465	NP_612474	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	692	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		203			C2H2-type 1.		Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.607C>T	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345415	0.41498	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.25749	1.78;1.78	4.0	3.03	0.35002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51584	0.1683	M	0.86573	2.825	0.34132	D	0.665361	D	0.89917	1.0	D	0.91635	0.999	T	0.65705	-0.6103	9	0.87932	D	0	.	8.3112	0.32073	0.361:0.639:0.0:0.0	.	203	P10075	GLI4_HUMAN	C	203	ENSP00000345024:R203C;ENSP00000430987:R203C	ENSP00000345024:R203C	R	+	1	0	GLI4	144429825	0.000000	0.05858	1.000000	0.80357	0.061000	0.15899	-0.342000	0.07801	2.041000	0.60428	0.563000	0.77884	CGC		0.687	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			6	15	0	0	0	0	6	15				
LURAP1L	286343	broad.mit.edu	37	9	12775787	12775787	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr9:12775787G>T	ENST00000319264.3	+	1	768	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	25																	CGAGAGTCTAGTGCGCTCTCT	0.647																																						uc003zkw.2		NA																	0					0						c.(73-75)GTG>TTG		hypothetical protein LOC286343							16.0	18.0	17.0					9																	12775787		2201	4296	6497	SO:0001583	missense	286343							g.chr9:12775787G>T	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.73G>T	9.37:g.12775787G>T	ENSP00000321026:p.Val25Leu						p.V25L	NM_203403	NP_981948	Q8IV03	CI150_HUMAN		GBM - Glioblastoma multiforme(1;1.64e-13)	1	776	+			25					Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.73G>T	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	G	8.783	0.928706	0.18131	.	.	ENSG00000153714	ENST00000319264	T	0.39592	1.07	5.65	4.74	0.60224	.	0.443802	0.19898	N	0.103569	T	0.17152	0.0412	N	0.01874	-0.695	0.24268	N	0.995253	B	0.18741	0.03	B	0.24701	0.055	T	0.17930	-1.0353	10	0.02654	T	1	.	13.0515	0.58958	0.0:0.0:0.8386:0.1614	.	25	Q8IV03	CI150_HUMAN	L	25	ENSP00000321026:V25L	ENSP00000321026:V25L	V	+	1	0	C9orf150	12765787	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.509000	0.45459	1.341000	0.45600	0.561000	0.74099	GTG		0.647	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		7	22	1	0	0.00198382	0.00597875	7	22				
MXRA5	25878	broad.mit.edu	37	X	3228388	3228388	+	Missense_Mutation	SNP	C	C	A	rs367812191		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:3228388C>A	ENST00000217939.6	-	7	8010	c.7856G>T	c.(7855-7857)cGc>cTc	p.R2619L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2619	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGCGGCATTGCGGGCCACGCA	0.597																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(7855-7857)CGC>CTC		adlican precursor							25.0	27.0	26.0					X																	3228388		2176	4257	6433	SO:0001583	missense	25878					extracellular region		g.chrX:3228388C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7856G>T	X.37:g.3228388C>A	ENSP00000217939:p.Arg2619Leu						p.R2619L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8013	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2619			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7856G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650482	0.29336	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66280	-0.2	4.23	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212294	0.18864	U	0.129041	T	0.60715	0.2290	L	0.39245	1.2	0.09310	N	1	D	0.55605	0.972	P	0.54460	0.753	T	0.50355	-0.8838	10	0.45353	T	0.12	.	7.1745	0.25736	0.1674:0.7424:0.0:0.0902	.	2619	Q9NR99	MXRA5_HUMAN	L	2619	ENSP00000217939:R2619L	ENSP00000217939:R2619L	R	-	2	0	MXRA5	3238388	0.005000	0.15991	0.014000	0.15608	0.122000	0.20287	1.644000	0.37228	0.650000	0.30769	-0.175000	0.13238	CGC		0.597	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		22	6	1	0	2.98e-07	9.75e-07	22	6				
GRPR	2925	broad.mit.edu	37	X	16168686	16168686	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:16168686G>A	ENST00000380289.2	+	2	1070	c.672G>A	c.(670-672)tcG>tcA	p.S224S	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	224					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.S224S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCCACTGTCGATCATCTCTG	0.438																																						uc004cxj.2		NA																	1	Substitution - coding silent(1)	p.S224S(1)	lung(1)	ovary(3)|lung(1)	4						c.(670-672)TCG>TCA		gastrin-releasing peptide receptor							169.0	131.0	144.0					X																	16168686		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168686G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.672G>A	X.37:g.16168686G>A							p.S224S	NM_005314	NP_005305	P30550	GRPR_HUMAN			2	1325	+	Hepatocellular(33;0.183)		224			Helical; Name=5; (Potential).		B2R910	Silent	SNP	ENST00000380289.2	37	c.672G>A	CCDS14174.1																																																																																				0.438	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		5	48	0	0	0	0	5	48				
SLC25A14	9016	broad.mit.edu	37	X	129479183	129479183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:129479183G>T	ENST00000218197.5	+	2	330	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SLC25A14_ENST00000545805.1_Nonsense_Mutation_p.E35*|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000543953.1_5'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	35					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTAAGTCATGAGATGTCTGG	0.388																																						uc004evn.1		NA																	0				ovary(1)	1						c.(103-105)GAG>TAG		solute carrier family 25, member 14 isoform							214.0	170.0	185.0					X																	129479183		2203	4300	6503	SO:0001587	stop_gained	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129479183G>T	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.103G>T	X.37:g.129479183G>T	ENSP00000218197:p.Glu35*					SLC25A14_uc011mut.1_5'UTR|SLC25A14_uc011muu.1_Nonsense_Mutation_p.E35*|SLC25A14_uc010nrg.2_Nonsense_Mutation_p.E32*|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Nonsense_Mutation_p.E35*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.E32*|SLC25A14_uc004evr.1_Nonsense_Mutation_p.E32*	p.E35*	NM_003951	NP_003942	O95258	UCP5_HUMAN			3	316	+			35					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Nonsense_Mutation	SNP	ENST00000218197.5	37	c.103G>T	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489147	0.96323	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000218197;ENST00000361980;ENST00000339231	.	.	.	4.26	4.26	0.50523	.	0.445102	0.19772	N	0.106406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.8198	7.2013	0.25883	0.1225:0.0:0.8775:0.0	.	.	.	.	X	35;35;35;32;32	.	ENSP00000218197:E35X	E	+	1	0	SLC25A14	129306864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	2.092000	0.63282	0.594000	0.82650	GAG		0.388	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		35	19	1	0	1.27e-14	4.4e-14	35	19				
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483																																						uc004fam.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(631-633)GAT>AAT		fibroblast growth factor 13 isoform 1							128.0	100.0	110.0					X																	137715118		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715118C>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.631G>A	X.37:g.137715118C>T	ENSP00000322390:p.Asp211Asn					FGF13_uc004fan.2_Missense_Mutation_p.D158N|FGF13_uc011mwi.1_Missense_Mutation_p.D192N|FGF13_uc004faq.2_Missense_Mutation_p.D221N|FGF13_uc004far.2_Missense_Mutation_p.D192N|FGF13_uc011mwj.1_Missense_Mutation_p.D221N|FGF13_uc011mwk.1_Missense_Mutation_p.D165N	p.D211N	NM_004114	NP_004105	Q92913	FGF13_HUMAN			5	1293	-	Acute lymphoblastic leukemia(192;0.000127)		211					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.631G>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350265	0.61183	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198	T;T;T;T;T;D	0.81739	-0.21;-0.21;-0.21;-0.21;-0.21;-1.53	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.29936	0.114;0.262;0.182;0.23	B;B;B;B	0.20184	0.012;0.018;0.028;0.019	T	0.71126	-0.4683	10	0.44086	T	0.13	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	165;221;158;211	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	N	211;158;192;221;165;221	ENSP00000322390:D211N;ENSP00000303391:D158N;ENSP00000409276:D192N;ENSP00000359635:D221N;ENSP00000437903:D165N;ENSP00000396198:D221N	ENSP00000303391:D158N	D	-	1	0	FGF13	137542784	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	GAT		0.483	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		40	14	0	0	0	0	40	14				
P2RY11	5032	broad.mit.edu	37	19	10225151	10225152	+	Frame_Shift_Del	DEL	AT	AT	-	rs151191595		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:10225151_10225152delAT	ENST00000321826.4	+	2	1046_1047	c.862_863delAT	c.(862-864)atafs	p.I288fs	PPAN-P2RY11_ENST00000393796.4_Frame_Shift_Del_p.I708fs|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN_ENST00000556468.1_Frame_Shift_Del_p.I708fs	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	288					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTTTGCAGACATAGCCCAGGCC	0.658																																						uc002mna.2		NA																	0				ovary(2)	2						c.(2122-2124)ATAfs		PPAN-P2RY11 protein																																				SO:0001589	frameshift_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10225151_10225152delAT	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.862_863delAT	19.37:g.10225151_10225152delAT	ENSP00000323872:p.Ile288fs					PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Frame_Shift_Del_p.I288fs	p.I708fs	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2122_2123	+			Error:Variant_position_missing_in_Q9NQ55_after_alignment					B2R8X9|O43190|Q9BYU4|Q9H170	Frame_Shift_Del	DEL	ENST00000321826.4	37	c.2122_2123delAT	CCDS12226.1																																																																																				0.658	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		21	20	NA	NA	NA	NA	21	20	---	---	---	---
SERPINE1	5054	broad.mit.edu	37	7	100777046	100777047	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:100777046_100777047insA	ENST00000223095.4	+	5	928_929	c.771_772insA	c.(772-774)atgfs	p.M258fs	SERPINE1_ENST00000445463.2_Frame_Shift_Ins_p.M243fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	258					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ACACCCTCAGCATGTTCATTGC	0.54																																						uc003uxt.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(769-774)AGCATGfs		plasminogen activator inhibitor-1 isoform 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100777046_100777047insA	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.772dupA	7.37:g.100777047_100777047dupA	ENSP00000223095:p.Met258fs					SERPINE1_uc011kkj.1_Frame_Shift_Ins_p.S242fs|SERPINE1_uc003uxu.1_Frame_Shift_Ins_p.S88fs	p.S257fs	NM_000602	NP_000593	P05121	PAI1_HUMAN			5	919_920	+	Lung NSC(181;0.136)|all_lung(186;0.182)		257_258					B7Z4S0|F8WD53	Frame_Shift_Ins	INS	ENST00000223095.4	37	c.771_772insA	CCDS5711.1																																																																																				0.540	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		20	56	NA	NA	NA	NA	20	56	---	---	---	---
