#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TGFBR3	7049	broad.mit.edu	37	1	92177890	92177890	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr1:92177890G>T	ENST00000525962.1	-	12	2137	c.2076C>A	c.(2074-2076)ttC>ttA	p.F692L	TGFBR3_ENST00000370399.2_Missense_Mutation_p.F691L|TGFBR3_ENST00000212355.4_Missense_Mutation_p.F692L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	692	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.F692L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGACAGGCTTGAAGACAAAGC	0.473																																							uc001doh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2074-2076)TTC>TTA		transforming growth factor, beta receptor III							127.0	123.0	124.0					1																	92177890		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92177890G>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2076C>A	1.37:g.92177890G>T	ENSP00000436127:p.Phe692Leu					TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.F650L|TGFBR3_uc001doi.2_Missense_Mutation_p.F691L|TGFBR3_uc001doj.2_Missense_Mutation_p.F691L	p.F692L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2542	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	692			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.2076C>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857385	0.32791	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	6.16	-4.7	0.03288	Zona pellucida sperm-binding protein (3);	0.049050	0.85682	D	0.000000	T	0.76997	0.4066	L	0.37750	1.13	0.48040	D	0.999573	B;P	0.44260	0.219;0.83	B;B	0.43701	0.065;0.428	T	0.74702	-0.3576	9	.	.	.	-18.6064	12.5655	0.56308	0.3552:0.0899:0.5549:0.0	.	691;692	Q03167-2;Q03167	.;TGBR3_HUMAN	L	692;691;692;691	ENSP00000212355:F692L;ENSP00000359426:F691L;ENSP00000436127:F692L;ENSP00000432638:F691L	.	F	-	3	2	TGFBR3	91950478	1.000000	0.71417	0.160000	0.22671	0.873000	0.50193	0.961000	0.29267	-0.713000	0.04981	0.650000	0.86243	TTC		0.473	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		8	67	1	0	7.48243e-07	0.058154	8.55135e-07	8	67				
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																							uc001fst.1		NA																	6	Substitution - Missense(6)		lung(4)|urinary_tract(1)|prostate(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6031-6033)GCC>GTC		spectrin, alpha, erythrocytic 1							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val						p.A2011V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			43	6231	-	all_hematologic(112;0.0378)		2011			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	381	0	0	0	0.02938	0	6	381				
FOSL1	8061	broad.mit.edu	37	11	65660407	65660407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr11:65660407C>A	ENST00000312562.2	-	4	952	c.766G>T	c.(766-768)Gga>Tga	p.G256*	FOSL1_ENST00000448083.2_Nonsense_Mutation_p.G154*|FOSL1_ENST00000531493.1_Nonsense_Mutation_p.G220*|FOSL1_ENST00000532401.1_3'UTR	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	256					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G256*(1)		breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GATGGGTCTCCGCTGCTGCTG	0.612																																							uc001ogg.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(766-768)GGA>TGA		FOS-like antigen 1							44.0	48.0	47.0					11																	65660407		2201	4296	6497	SO:0001587	stop_gained	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65660407C>A	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.766G>T	11.37:g.65660407C>A	ENSP00000310170:p.Gly256*					FOSL1_uc010ros.1_Nonsense_Mutation_p.G154*	p.G256*	NM_005438	NP_005429	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	4	953	-			256					B4DR11|Q6FG51	Nonsense_Mutation	SNP	ENST00000312562.2	37	c.766G>T	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347766	0.82022	.	.	ENSG00000175592	ENST00000448083;ENST00000312562;ENST00000531493	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.6363	9.3752	0.38278	0.0:0.9027:0.0:0.0973	.	.	.	.	X	154;256;220	.	ENSP00000310170:G256X	G	-	1	0	FOSL1	65416983	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	4.386000	0.59620	2.287000	0.76781	0.561000	0.74099	GGA		0.612	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		3	42	1	0	0.00909568	0.009096	0.0095744	3	42				
TMPRSS13	84000	broad.mit.edu	37	11	117784512	117784512	+	Silent	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr11:117784512G>A	ENST00000430170.2	-	5	876	c.789C>T	c.(787-789)tgC>tgT	p.C263C	TMPRSS13_ENST00000526090.1_Silent_p.C263C|TMPRSS13_ENST00000445164.2_Silent_p.C263C|TMPRSS13_ENST00000528626.1_Silent_p.C228C|TMPRSS13_ENST00000524993.1_Silent_p.C263C	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	263	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.C263C(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCAGCTGCTGGCAGGTCTTCT	0.537																																							uc001prs.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(787-789)TGC>TGT		transmembrane protease, serine 13							76.0	79.0	78.0					11																	117784512		1885	4108	5993	SO:0001819	synonymous_variant	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117784512G>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.789C>T	11.37:g.117784512G>A						TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.C263C	p.C263C	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	5	882	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	258			Extracellular (Potential).|SRCR.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	c.789C>T	CCDS58185.1																																																																																				0.537	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		13	55	0	0	0	0.020292	0	13	55				
GPHB5	122876	broad.mit.edu	37	14	63784452	63784452	+	RNA	SNP	C	C	T	rs191071731		TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr14:63784452C>T	ENST00000539258.1	-	0	168							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.V38M(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AACTCCCTCACGGCACAGCCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18742	0.001		0.0	False		,,,				2504	0.0						uc010apu.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(112-114)GTG>ATG		glycoprotein beta 5		C	MET/VAL	2,4000		0,2,1999	43.0	46.0	45.0		112	5.6	1.0	14		45	2,8332		0,2,4165	yes	missense	GPHB5	NM_145171.3	21	0,4,6164	TT,TC,CC		0.024,0.05,0.0324	probably-damaging	38/92	63784452	4,12332	2001	4167	6168			122876					extracellular region	hormone activity	g.chr14:63784452C>T	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784452C>T						GPHB5_uc001xgc.2_Missense_Mutation_p.V28M	p.V38M	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	1	112	-			38					Q6NTD0|Q8NFW2	Missense_Mutation	SNP	ENST00000539258.1	37	c.112G>A																																																																																					0.622	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		5	47	0	0	0	0.014758	0	5	47				
SPTB	6710	broad.mit.edu	37	14	65268073	65268073	+	Silent	SNP	C	C	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr14:65268073C>T	ENST00000389721.5	-	6	725	c.693G>A	c.(691-693)cgG>cgA	p.R231R	SPTB_ENST00000556626.1_Silent_p.R231R|SPTB_ENST00000542895.1_Silent_p.R231R|SPTB_ENST00000389720.3_Silent_p.R231R|SPTB_ENST00000389722.3_Silent_p.R231R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	231	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R231R(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCAGGTTGTGCCGGGCATTGG	0.602											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001xht.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(691-693)CGG>CGA		spectrin beta isoform b							87.0	67.0	74.0					14																	65268073		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65268073C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.693G>A	14.37:g.65268073C>T			OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	SPTB_uc001xhr.2_Silent_p.R231R|SPTB_uc001xhs.2_Silent_p.R231R|SPTB_uc001xhu.2_Silent_p.R231R	p.R231R	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	6	747	-		all_lung(585;4.15e-09)	231			Actin-binding.|CH 2.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.693G>A	CCDS32100.1																																																																																				0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			3	52	0	0	0	0.004672	0	3	52				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																							uc010axw.2		NA																	0					0						c.(250-252)AAC>CAC		golgi autoantigen, golgin subfamily a, 8E																																						100132979							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G						GOLGA8DP_uc010axx.2_Missense_Mutation_p.N84H|uc010tzw.1_5'Flank	p.N84H	NM_001012423	NP_001012423					10	1148	-									Missense_Mutation	SNP	ENST00000314246.8	37	c.250A>C		.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	180	0	0	0	0.014758	0	4	180				
TICRR	90381	broad.mit.edu	37	15	90167027	90167027	+	Silent	SNP	A	A	C			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr15:90167027A>C	ENST00000268138.7	+	20	3591	c.3486A>C	c.(3484-3486)tcA>tcC	p.S1162S	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1161S			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1162					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S1162S(1)									ACTCCTCCTCACCCGGCCATG	0.473																																							uc002boe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3484-3486)TCA>TCC		leucine-rich repeat kinase 1							108.0	109.0	108.0					15																	90167027		1882	4123	6005	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90167027A>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3486A>C	15.37:g.90167027A>C						C15orf42_uc010upv.1_RNA	p.S1162S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	3486	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1162					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.3486A>C	CCDS10352.2																																																																																				0.473	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		9	109	0	0	0	0.069234	0	9	109				
NKD1	85407	broad.mit.edu	37	16	50667219	50667219	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr16:50667219G>A	ENST00000268459.3	+	10	1164	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	314					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)	p.D314N(1)		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)		CCAAGGCGTGGACCCGGCCTC	0.632																																							uc002egg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(940-942)GAC>AAC		naked cuticle homolog 1							125.0	135.0	131.0					16																	50667219		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667219G>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.940G>A	16.37:g.50667219G>A	ENSP00000268459:p.Asp314Asn						p.D314N	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1164	+		all_cancers(37;0.229)	314					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.940G>A	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357022	0.82243	.	.	ENSG00000140807	ENST00000268459	T	0.64260	-0.09	4.44	4.44	0.53790	.	0.415464	0.27464	N	0.019251	T	0.66147	0.2760	M	0.62723	1.935	0.58432	D	0.999999	P	0.44139	0.827	P	0.46758	0.526	T	0.68622	-0.5360	10	0.44086	T	0.13	-22.0982	15.4353	0.75140	0.0:0.0:1.0:0.0	.	314	Q969G9	NKD1_HUMAN	N	314	ENSP00000268459:D314N	ENSP00000268459:D314N	D	+	1	0	NKD1	49224720	1.000000	0.71417	0.923000	0.36655	0.898000	0.52572	8.277000	0.89896	2.297000	0.77311	0.585000	0.79938	GAC		0.632	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			16	92	0	0	0	0.038395	0	16	92				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0						uc010dln.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	skin(3)	3						c.(1519-1521)AAA>GAA		ANKRD26-like family B, member 2							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.1_RNA	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1973	-			507			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	62	0	0	0	0.004672	0	3	62				
EMR1	2015	broad.mit.edu	37	19	6919679	6919679	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr19:6919679G>A	ENST00000312053.4	+	13	1578	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	EMR1_ENST00000250572.8_Missense_Mutation_p.R514Q|EMR1_ENST00000381404.4_Missense_Mutation_p.R462Q|EMR1_ENST00000381407.5_Missense_Mutation_p.R373Q|EMR1_ENST00000450315.3_Missense_Mutation_p.R337Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	514	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R514Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGAATTCTCGAGTCGTTGGG	0.473																																							uc002mfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1540-1542)CGA>CAA		egf-like module containing, mucin-like, hormone							125.0	114.0	118.0					19																	6919679		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919679G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1541G>A	19.37:g.6919679G>A	ENSP00000311545:p.Arg514Gln					EMR1_uc010dvc.2_Missense_Mutation_p.R514Q|EMR1_uc010dvb.2_Missense_Mutation_p.R462Q|EMR1_uc010xji.1_Missense_Mutation_p.R373Q|EMR1_uc010xjj.1_Missense_Mutation_p.R337Q	p.R514Q	NM_001974	NP_001965	Q14246	EMR1_HUMAN			13	1579	+	all_hematologic(4;0.166)		514			Ser/Thr-rich.|Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1541G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076370	0.36662	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77877	-1.09;-1.12;-1.13;0.06;0.39	3.99	1.83	0.25207	.	.	.	.	.	T	0.77877	0.4196	M	0.62723	1.935	0.20307	N	0.999918	D;P;D;D;D	0.71674	0.998;0.775;0.996;0.998;0.993	P;B;P;P;P	0.56398	0.69;0.076;0.797;0.616;0.632	T	0.64732	-0.6338	9	0.10902	T	0.67	.	6.2419	0.20795	0.2343:0.0:0.7657:0.0	.	337;373;514;462;514	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	Q	514;514;462;514;373;337	ENSP00000311545:R514Q;ENSP00000370811:R462Q;ENSP00000250572:R514Q;ENSP00000370814:R373Q;ENSP00000405974:R337Q	ENSP00000250572:R514Q	R	+	2	0	EMR1	6870679	0.884000	0.30299	0.271000	0.24616	0.474000	0.32979	1.300000	0.33436	0.454000	0.26884	0.491000	0.48974	CGA		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			18	82	0	0	0	0.043863	0	18	82				
ZNF420	147923	broad.mit.edu	37	19	37619247	37619247	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr19:37619247T>C	ENST00000337995.3	+	5	1569	c.1354T>C	c.(1354-1356)Tgt>Cgt	p.C452R	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.C452R|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C452R(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTAAAGAATGTGGAAAAAC	0.403																																							uc002ofl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1354-1356)TGT>CGT		zinc finger protein 420							65.0	65.0	65.0					19																	37619247		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619247T>C	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1354T>C	19.37:g.37619247T>C	ENSP00000338770:p.Cys452Arg						p.C452R	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1569	+			452			C2H2-type 12.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1354T>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785411	0.49997	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	D;D	0.85955	-2.05;-2.05	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94591	0.8257	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95491	0.8569	9	0.72032	D	0.01	.	11.8173	0.52218	0.0:0.0:0.0:1.0	.	452	Q8TAQ5	ZN420_HUMAN	R	452	ENSP00000306102:C452R;ENSP00000338770:C452R	ENSP00000306102:C452R	C	+	1	0	ZNF420	42311087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.684000	0.54671	1.639000	0.50556	0.402000	0.26972	TGT		0.403	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		8	42	0	0	0	0.047766	0	8	42				
SP140L	93349	broad.mit.edu	37	2	231222646	231222646	+	Silent	SNP	C	C	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr2:231222646C>T	ENST00000415673.2	+	3	320	c.234C>T	c.(232-234)ctC>ctT	p.L78L	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000396563.4_Silent_p.L78L|SP140L_ENST00000243810.6_Silent_p.L78L|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000444636.1_Silent_p.L78L	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	78	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L78L(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TTGAGGGCCTCCGCGATCGGG	0.358																																							uc010fxm.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(232-234)CTC>CTT		SP140 nuclear body protein-like							150.0	160.0	157.0					2																	231222646		2179	4296	6475	SO:0001819	synonymous_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231222646C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.234C>T	2.37:g.231222646C>T						SP140_uc010zma.1_RNA|SP140L_uc010fxn.1_5'UTR	p.L78L	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			3	325	+			78			HSR.		Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	c.234C>T	CCDS46538.1																																																																																				0.358	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		36	224	0	0	0	0.104719	0	36	224				
C2orf57	165100	broad.mit.edu	37	2	232458074	232458074	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr2:232458074G>A	ENST00000313965.2	+	1	500	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	138								p.A138T(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GTCACAAATGGCGAGTGTTCC	0.572																																							uc002vrz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)GCG>ACG		hypothetical protein LOC165100							135.0	135.0	135.0					2																	232458074		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458074G>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.412G>A	2.37:g.232458074G>A	ENSP00000315557:p.Ala138Thr						p.A138T	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	463	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	138					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.412G>A	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.305421	0.40795	.	.	ENSG00000177673	ENST00000313965	T	0.19669	2.13	4.02	-2.67	0.06059	.	4.595230	0.00669	N	0.000634	T	0.12433	0.0302	L	0.27053	0.805	0.09310	N	1	P	0.42518	0.782	B	0.35278	0.199	T	0.14952	-1.0454	10	0.45353	T	0.12	.	3.3869	0.07274	0.0888:0.4026:0.2354:0.2732	.	138	Q53QW1	CB057_HUMAN	T	138	ENSP00000315557:A138T	ENSP00000315557:A138T	A	+	1	0	C2orf57	232166318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.420000	0.07062	-0.573000	0.05998	-0.253000	0.11424	GCG		0.572	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		5	78	0	0	0	0.021553	0	5	78				
SSTR4	6754	broad.mit.edu	37	20	23016703	23016703	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr20:23016703G>A	ENST00000255008.3	+	1	647	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	195					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.A195T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGCGGCCAGGCCGTGGCCTG	0.662																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(583-585)GCC>ACC		somatostatin receptor 4							26.0	33.0	30.0					20																	23016703		2133	4230	6363	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016703G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.583G>A	20.37:g.23016703G>A	ENSP00000255008:p.Ala195Thr						p.A195T	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	647	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		195			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.583G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	0.206	-1.040755	0.02013	.	.	ENSG00000132671	ENST00000255008	T	0.32988	1.43	3.45	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.312461	0.24174	U	0.040870	T	0.11281	0.0275	N	0.03177	-0.4	0.20403	N	0.999901	B	0.06786	0.001	B	0.15052	0.012	T	0.33240	-0.9876	10	0.06236	T	0.91	.	10.4356	0.44433	0.0:0.0:0.803:0.197	.	195	P31391	SSR4_HUMAN	T	195	ENSP00000255008:A195T	ENSP00000255008:A195T	A	+	1	0	SSTR4	22964703	0.040000	0.19996	0.012000	0.15200	0.661000	0.39034	1.014000	0.29950	0.585000	0.29608	0.655000	0.94253	GCC		0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			9	30	0	0	0	0.105934	0	9	30				
MRPL39	54148	broad.mit.edu	37	21	26965143	26965143	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr21:26965143G>A	ENST00000352957.4	-	8	943	c.902C>T	c.(901-903)tCt>tTt	p.S301F	MRPL39_ENST00000307301.7_Missense_Mutation_p.S301F	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	301						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S301F(2)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AACAGGTAAAGACACGCCCTG	0.378																																							uc002ylo.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(901-903)TCT>TTT		mitochondrial ribosomal protein L39 isoform a							78.0	73.0	75.0					21																	26965143		2203	4300	6503	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26965143G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.902C>T	21.37:g.26965143G>A	ENSP00000284967:p.Ser301Phe					MRPL39_uc002yln.2_Missense_Mutation_p.S301F	p.S301F	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN			8	916	-			301					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.902C>T	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204674	0.58234	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.64085	-0.08;-0.05;0.01	5.39	5.39	0.77823	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.80643	-0.1291	10	0.87932	D	0	-26.2077	18.9269	0.92549	0.0:0.0:1.0:0.0	.	301;301	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	F	301;301;291	ENSP00000284967:S301F;ENSP00000305682:S301F;ENSP00000404426:S291F	ENSP00000305682:S301F	S	-	2	0	MRPL39	25887014	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	6.369000	0.73109	2.799000	0.96334	0.655000	0.94253	TCT		0.378	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		13	54	0	0	0	0.055883	0	13	54				
PHF21B	112885	broad.mit.edu	37	22	45309828	45309828	+	Silent	SNP	C	C	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr22:45309828C>T	ENST00000313237.5	-	5	855	c.705G>A	c.(703-705)caG>caA	p.Q235Q	PHF21B_ENST00000403565.1_Silent_p.Q31Q|PHF21B_ENST00000447824.3_Silent_p.Q181Q|PHF21B_ENST00000404079.2_Silent_p.Q181Q|PHF21B_ENST00000396103.3_Silent_p.Q193Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	235							zinc ion binding (GO:0008270)	p.Q235Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCACTTGAGGCTGAATGATGA	0.612																																							uc003bfn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(703-705)CAG>CAA		PHD finger protein 21B isoform 1							83.0	80.0	81.0					22																	45309828		2203	4300	6503	SO:0001819	synonymous_variant	112885						zinc ion binding	g.chr22:45309828C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.705G>A	22.37:g.45309828C>T						PHF21B_uc003bfm.2_Silent_p.Q31Q|PHF21B_uc011aqk.1_Silent_p.Q181Q|PHF21B_uc011aql.1_Silent_p.Q193Q|PHF21B_uc011aqm.1_Silent_p.Q181Q	p.Q235Q	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	856	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	235					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	c.705G>A	CCDS14061.1																																																																																				0.612	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		17	95	0	0	0	0.049695	0	17	95				
KIF9	64147	broad.mit.edu	37	3	47288871	47288871	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr3:47288871C>T	ENST00000265529.3	-	13	1905	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.E316K|KIF9_ENST00000444589.2_Missense_Mutation_p.E409K|KIF9_ENST00000335044.2_Missense_Mutation_p.E409K|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.E409K			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	409					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.E409K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACGTCGATCTCGTCCAGTGTC	0.592																																					Colon(44;962 1147 15977 24541)	Colon(44;962 1147 15977 24541)	uc010hjp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1225-1227)GAG>AAG		kinesin family member 9 isoform 2							155.0	148.0	151.0					3																	47288871		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47288871C>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1225G>A	3.37:g.47288871C>T	ENSP00000265529:p.Glu409Lys					KIF9_uc003cqx.2_Missense_Mutation_p.E409K|KIF9_uc003cqy.2_Missense_Mutation_p.E409K|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA	p.E409K	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	13	1829	-		Acute lymphoblastic leukemia(5;0.164)	409					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1225G>A	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859934	0.71834	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.63843	1.955	0.44899	D	0.997915	P;P	0.47106	0.89;0.65	B;B	0.41646	0.362;0.085	T	0.65928	-0.6049	10	0.72032	D	0.01	.	15.328	0.74182	0.0:1.0:0.0:0.0	.	409;409	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	K	409;409;409;409;316	ENSP00000333942:E409K;ENSP00000265529:E409K;ENSP00000414987:E409K;ENSP00000391100:E409K;ENSP00000292334:E316K	ENSP00000265529:E409K	E	-	1	0	KIF9	47263875	1.000000	0.71417	0.982000	0.44146	0.294000	0.27393	5.617000	0.67716	2.203000	0.70933	0.563000	0.77884	GAG		0.592	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			10	59	0	0	0	0.09319	0	10	59				
AFF1	4299	broad.mit.edu	37	4	87968334	87968334	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr4:87968334C>T	ENST00000307808.6	+	3	1046	c.626C>T	c.(625-627)cCc>cTc	p.P209L	AFF1_ENST00000395146.4_Missense_Mutation_p.P216L|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	209			P -> A (in dbSNP:rs3733378).		positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P216L(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCCCAGTTCCCCCTTTGTCA	0.522																																							uc003hqj.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(625-627)CCC>CTC		myeloid/lymphoid or mixed-lineage leukemia							148.0	146.0	147.0					4																	87968334		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968334C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.626C>T	4.37:g.87968334C>T	ENSP00000305689:p.Pro209Leu					AFF1_uc011ccx.1_Missense_Mutation_p.P150L|AFF1_uc003hqh.1_Missense_Mutation_p.P216L|AFF1_uc011ccy.1_Missense_Mutation_p.P216L|AFF1_uc011ccz.1_Missense_Mutation_p.P216L|AFF1_uc003hqk.3_Missense_Mutation_p.P209L|AFF1_uc011cda.1_Intron	p.P209L	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	1033	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	209					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.626C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337361	0.24253	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.69	3.86	0.44501	.	0.538509	0.18818	N	0.130313	T	0.64057	0.2564	M	0.65975	2.015	0.80722	D	1	P;B;B;P;P;P	0.45126	0.851;0.025;0.025;0.775;0.775;0.851	P;B;B;B;B;P	0.45195	0.473;0.028;0.028;0.396;0.396;0.473	T	0.62201	-0.6904	10	0.35671	T	0.21	-8.7734	6.3323	0.21276	0.1355:0.6628:0.131:0.0708	.	216;216;150;209;209;216	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	L	216;216;216;216;209	ENSP00000378578:P216L;ENSP00000427593:P216L;ENSP00000424483:P216L;ENSP00000305689:P209L	ENSP00000305689:P209L	P	+	2	0	AFF1	88187358	0.001000	0.12720	0.925000	0.36789	0.252000	0.25951	0.836000	0.27545	1.407000	0.46875	0.650000	0.86243	CCC		0.522	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		20	103	0	0	0	0.043863	0	20	103				
FGA	2243	broad.mit.edu	37	4	155508070	155508070	+	Splice_Site	SNP	C	C	T			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr4:155508070C>T	ENST00000302053.3	-	5	589	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	FGA_ENST00000403106.3_Splice_Site_p.V171M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	171					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.V171M(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAATGTCCACCTAGAGAGAG	0.393																																					NSCLC(143;340 1922 20892 22370 48145)	NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(511-513)GTG>ATG		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						59.0	61.0	60.0					4																	155508070		2202	4300	6502	SO:0001630	splice_region_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508070C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.511-1G>A	4.37:g.155508070C>T						FGA_uc003ioe.1_Missense_Mutation_p.V171M|FGA_uc003iof.1_Intron	p.V171M	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	569	-	all_hematologic(180;0.215)	Renal(120;0.0458)	171			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.511G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287853	0.80803	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	T;T	0.61510	0.1;0.1	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.110966	0.64402	D	0.000010	T	0.79076	0.4385	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79035	-0.1968	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	171;171	P02671-2;P02671	.;FIBA_HUMAN	M	171	ENSP00000306361:V171M;ENSP00000385981:V171M	ENSP00000306361:V171M	V	-	1	0	FGA	155727520	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.695000	0.61767	2.941000	0.99782	0.655000	0.94253	GTG		0.393	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	Missense_Mutation	14	49	0	0	0	0.024245	0	14	49				
PCDHB3	56132	broad.mit.edu	37	5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	rs144773246	byFrequency	TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													C|||	5	0.000998403	0.0	0.0014	5008	,	,		16392	0.002		0.0	False		,,,				2504	0.002						uc003lio.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1912-1914)CAC>CAG		protocadherin beta 3 precursor		C	GLN/HIS	8,3686		0,8,1839	21.0	23.0	22.0		1914	-2.8	0.8	5	dbSNP_134	22	0,7422		0,0,3711	no	missense	PCDHB3	NM_018937.2	24	0,8,5550	GG,GC,CC		0.0,0.2166,0.072	benign	638/797	140482147	8,11108	1847	3711	5558	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482147C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1914C>G	5.37:g.140482147C>G	ENSP00000231130:p.His638Gln					uc003lin.2_5'Flank	p.H638Q	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1914	+			638			Extracellular (Potential).|Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1914C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798298	0.02841	0.002166	0.0	ENSG00000113205	ENST00000231130	T	0.52526	0.66	4.38	-2.84	0.05751	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20618	0.0496	N	0.10760	0.04	0.23555	N	0.997428	B	0.26672	0.156	B	0.30943	0.122	T	0.32903	-0.9889	9	0.02654	T	1	.	7.9075	0.29771	0.1045:0.1872:0.6227:0.0856	.	638	Q9Y5E6	PCDB3_HUMAN	Q	638	ENSP00000231130:H638Q	ENSP00000231130:H638Q	H	+	3	2	PCDHB3	140462331	0.000000	0.05858	0.777000	0.31699	0.880000	0.50808	-0.407000	0.07178	-0.244000	0.09639	0.556000	0.70494	CAC		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		3	49	0	0	0	0.004672	0	3	49				
SCML4	256380	broad.mit.edu	37	6	108042097	108042097	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr6:108042097C>A	ENST00000369020.3	-	6	1028	c.783G>T	c.(781-783)ttG>ttT	p.L261F	SCML4_ENST00000369021.3_Missense_Mutation_p.L232F|SCML4_ENST00000369025.2_Missense_Mutation_p.L19F|SCML4_ENST00000369022.2_Missense_Mutation_p.L203F|SCML4_ENST00000479803.1_5'UTR	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L232F(2)|p.L261F(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGAGGGGTGCAAGGAGCCCC	0.622																																							uc010kdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(781-783)TTG>TTT		sex comb on midleg-like 4							63.0	66.0	65.0					6																	108042097		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108042097C>A		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.783G>T	6.37:g.108042097C>A	ENSP00000358016:p.Leu261Phe					SCML4_uc003prz.3_Missense_Mutation_p.L203F|SCML4_uc011eam.1_Missense_Mutation_p.L261F|SCML4_uc003pry.3_Missense_Mutation_p.L19F|SCML4_uc003psa.3_Missense_Mutation_p.L232F	p.L261F	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	6	1034	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	261					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.783G>T	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	7.633	0.679290	0.14907	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.48201	0.89;0.89;0.82	4.33	3.45	0.39498	.	1.655890	0.03945	N	0.287453	T	0.25158	0.0611	L	0.47716	1.5	0.09310	N	1	P;P;P	0.39782	0.561;0.551;0.688	B;B;B	0.40534	0.125;0.11;0.332	T	0.20207	-1.0282	10	0.51188	T	0.08	.	4.305	0.10942	0.1808:0.6315:0.0:0.1877	.	261;261;232	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	F	203;19;261;232	ENSP00000358018:L203F;ENSP00000358016:L261F;ENSP00000358017:L232F	ENSP00000358016:L261F	L	-	3	2	SCML4	108148790	0.088000	0.21588	0.086000	0.20670	0.395000	0.30598	0.559000	0.23485	1.386000	0.46466	0.650000	0.86243	TTG		0.622	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		12	64	1	0	0.00010058	0.09319	0.000111755	12	64				
MED23	9439	broad.mit.edu	37	6	131944569	131944569	+	Silent	SNP	A	A	G			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr6:131944569A>G	ENST00000368068.3	-	5	497	c.318T>C	c.(316-318)acT>acC	p.T106T	MED23_ENST00000354577.4_Silent_p.T106T|MED23_ENST00000368053.4_Silent_p.T106T|MED23_ENST00000368058.1_Silent_p.T106T|MED23_ENST00000368060.3_Silent_p.T106T|MED23_ENST00000539158.1_Silent_p.T106T|MED23_ENST00000540546.1_Silent_p.T106T|MED23_ENST00000403834.3_Silent_p.T106T	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	106					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.T106T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCCACTCAAGAGTGTCAGAGT	0.363																																							uc003qcs.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(316-318)ACT>ACC		mediator complex subunit 23 isoform a							82.0	88.0	86.0					6																	131944569		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131944569A>G	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.318T>C	6.37:g.131944569A>G						MED23_uc003qcq.2_Silent_p.T106T|MED23_uc003qct.1_Silent_p.T106T|MED23_uc011ecb.1_RNA	p.T106T	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	5	492	-	Breast(56;0.0753)		106					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.318T>C	CCDS5147.1																																																																																				0.363	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			3	108	0	0	0	0.009096	0	3	108				
VPS13B	157680	broad.mit.edu	37	8	100836132	100836132	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr8:100836132A>G	ENST00000358544.2	+	51	9442	c.9331A>G	c.(9331-9333)Ata>Gta	p.I3111V	VPS13B_ENST00000357162.2_Missense_Mutation_p.I3086V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3111					protein transport (GO:0015031)			p.I3111V(1)|p.I3086V(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGACTACAATAATCAATAA	0.318																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9331-9333)ATA>GTA		vacuolar protein sorting 13B isoform 5							158.0	164.0	162.0					8																	100836132		2203	4297	6500	SO:0001583	missense	157680				protein transport			g.chr8:100836132A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9331A>G	8.37:g.100836132A>G	ENSP00000351346:p.Ile3111Val					VPS13B_uc003yiw.2_Missense_Mutation_p.I3086V	p.I3111V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		51	9442	+	Breast(36;3.73e-07)		3111					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9331A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	9.974	1.226229	0.22542	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.76709	-1.04;-1.04	5.39	-2.31	0.06765	.	0.356716	0.29260	N	0.012666	T	0.52354	0.1729	N	0.11560	0.145	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.20974	-1.0259	10	0.15066	T	0.55	.	10.8367	0.46692	0.5739:0.0:0.4261:0.0	.	3086;3111	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	3086;3111	ENSP00000349685:I3086V;ENSP00000351346:I3111V	ENSP00000349685:I3086V	I	+	1	0	VPS13B	100905308	0.009000	0.17119	0.687000	0.30102	0.976000	0.68499	0.249000	0.18216	-0.339000	0.08401	0.533000	0.62120	ATA		0.318	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		29	113	0	0	0	0.037714	0	29	113				
TBL1X	6907	broad.mit.edu	37	X	9661224	9661224	+	Silent	SNP	C	C	T	rs142039049		TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chrX:9661224C>T	ENST00000217964.7	+	10	1567	c.927C>T	c.(925-927)gaC>gaT	p.D309D	TBL1X_ENST00000424279.1_Silent_p.D258D|TBL1X_ENST00000380961.1_Silent_p.D258D|TBL1X_ENST00000407597.2_Silent_p.D309D|TBL1X_ENST00000536365.1_Silent_p.D258D	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	309					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D309D(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GTTCATATGACGGTTTTGCAA	0.522																																							uc010ndq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(925-927)GAC>GAT		transducin beta-like 1X isoform a		C	,,,	1,3834		0,1,1631,571	178.0	156.0	163.0		927,774,774,927	-5.1	0.3	X	dbSNP_134	163	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBL1X	NM_001139466.1,NM_001139467.1,NM_001139468.1,NM_005647.3	,,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,,	309/578,258/527,258/527,309/578	9661224	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9661224C>T	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.927C>T	X.37:g.9661224C>T						TBL1X_uc004csq.3_Silent_p.D258D|TBL1X_uc010ndr.2_Silent_p.D258D|TBL1X_uc004csr.2_Silent_p.D309D|TBL1X_uc004css.2_Silent_p.D260D	p.D309D	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			10	1295	+		Hepatocellular(5;0.000888)	309			WD 2.		A8K044|A8K4J7|Q86UY2	Silent	SNP	ENST00000217964.7	37	c.927C>T	CCDS14133.1																																																																																				0.522	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		15	103	0	0	0	0.038395	0	15	103				
NHS	4810	broad.mit.edu	37	X	17394368	17394368	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chrX:17394368G>A	ENST00000380060.3	+	1	826	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	163	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R163H(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCCACCGCCGCGTCTGGGCG	0.716																																							uc004cxx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(487-489)CGC>CAC		Nance-Horan syndrome protein isoform 1							5.0	5.0	5.0					X																	17394368		1916	3683	5599	SO:0001583	missense	4810					nucleus		g.chrX:17394368G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.488G>A	X.37:g.17394368G>A	ENSP00000369400:p.Arg163His					NHS_uc011mix.1_Missense_Mutation_p.R163H	p.R163H	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			1	826	+	Hepatocellular(33;0.183)		163					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.488G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.857069	0.91433	.	.	ENSG00000188158	ENST00000380060	T	0.62498	0.02	3.86	3.86	0.44501	.	0.000000	0.50627	U	0.000116	T	0.70570	0.3239	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75033	-0.3460	10	0.87932	D	0	-6.9126	14.904	0.70703	0.0:0.0:1.0:0.0	.	163;163	B7ZVX8;Q6T4R5	.;NHS_HUMAN	H	163	ENSP00000369400:R163H	ENSP00000369400:R163H	R	+	2	0	NHS	17304289	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.261000	0.89860	1.767000	0.52121	0.287000	0.19450	CGC		0.716	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		3	2	0	0	0	0.004672	0	3	2				
CHM	1121	broad.mit.edu	37	X	85219008	85219008	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chrX:85219008G>A	ENST00000357749.2	-	5	393	c.364C>T	c.(364-366)Cat>Tat	p.H122Y	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	122					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.H122Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ACAAGAGCATGATTTTTCTGC	0.403																																							uc004eet.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)CAT>TAT		choroideremia isoform a							61.0	54.0	56.0					X																	85219008		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85219008G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.364C>T	X.37:g.85219008G>A	ENSP00000350386:p.His122Tyr					CHM_uc011mqz.1_5'UTR	p.H122Y	NM_000390	NP_000381	P24386	RAE1_HUMAN			5	394	-		all_lung(315;5.41e-06)	122					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.364C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	9.668	1.145882	0.21288	.	.	ENSG00000188419	ENST00000357749	T	0.58797	0.31	4.64	4.64	0.57946	.	0.348428	0.29486	N	0.012006	T	0.48295	0.1492	N	0.19112	0.55	0.44048	D	0.996789	B	0.29432	0.244	B	0.41510	0.359	T	0.52852	-0.8520	10	0.62326	D	0.03	-2.4856	8.2751	0.31868	0.1842:0.0:0.8158:0.0	.	122	P24386	RAE1_HUMAN	Y	122	ENSP00000350386:H122Y	ENSP00000350386:H122Y	H	-	1	0	CHM	85105664	0.997000	0.39634	0.703000	0.30354	0.661000	0.39034	2.237000	0.43061	2.028000	0.59812	0.284000	0.19432	CAT		0.403	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		12	60	0	0	0	0.09319	0	12	60				
L1CAM	3897	broad.mit.edu	37	X	153132164	153132164	+	Missense_Mutation	SNP	C	C	T	rs200605257		TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chrX:153132164C>T	ENST00000370060.1	-	19	2560	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	L1CAM_ENST00000370055.1_Missense_Mutation_p.V786I|L1CAM_ENST00000361699.4_Missense_Mutation_p.V791I|L1CAM_ENST00000543994.1_Missense_Mutation_p.V793I|L1CAM_ENST00000538883.1_Missense_Mutation_p.V793I|L1CAM_ENST00000370057.3_Missense_Mutation_p.V791I|L1CAM_ENST00000361981.3_Missense_Mutation_p.V786I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	791	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.V791I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGTTGACGGCCTGGACT	0.632																																							uc004fjb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(1)	9						c.(2371-2373)GTC>ATC		L1 cell adhesion molecule isoform 1 precursor							121.0	96.0	105.0					X																	153132164		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132164C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2371G>A	X.37:g.153132164C>T	ENSP00000359077:p.Val791Ile					L1CAM_uc004fjc.2_Missense_Mutation_p.V791I|L1CAM_uc010nuo.2_Missense_Mutation_p.V786I	p.V791I	NM_000425	NP_000416	P32004	L1CAM_HUMAN			18	2479	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		791			Extracellular (Potential).|Fibronectin type-III 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2371G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575166	0.28092	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.28	2.32	0.28847	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.370241	0.22432	N	0.060124	T	0.35970	0.0950	N	0.21324	0.655	0.46185	D	0.998919	B;B;B	0.18610	0.002;0.029;0.003	B;B;B	0.19666	0.015;0.015;0.026	T	0.05616	-1.0874	10	0.15499	T	0.54	.	5.8442	0.18657	0.0:0.5901:0.134:0.2759	.	786;791;791	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	I	791;793;791;793;786;786;791	ENSP00000359077:V791I;ENSP00000438430:V793I;ENSP00000359074:V791I;ENSP00000439645:V793I;ENSP00000354712:V786I;ENSP00000359072:V786I;ENSP00000355380:V791I	ENSP00000355380:V791I	V	-	1	0	L1CAM	152785358	0.004000	0.15560	0.438000	0.26821	0.537000	0.34900	0.086000	0.14935	0.358000	0.24211	-0.344000	0.07964	GTC		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		10	79	0	0	0	0.069234	0	10	79				
MAX	4149	broad.mit.edu	37	14	65544746	65544748	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr14:65544746_65544748delCCG	ENST00000358664.4	-	4	308_310	c.178_180delCGG	c.(178-180)cggdel	p.R60del	MAX_ENST00000555932.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000556443.1_In_Frame_Del_p.R51del|MAX_ENST00000284165.6_In_Frame_Del_p.R60del|MAX_ENST00000555419.1_In_Frame_Del_p.R24del|MAX_ENST00000358402.4_In_Frame_Del_p.R51del|MAX_ENST00000556979.1_In_Frame_Del_p.R60del|MAX_ENST00000557277.1_De_novo_Start_InFrame|MAX_ENST00000557746.1_In_Frame_Del_p.R51del|MAX_ENST00000555667.1_In_Frame_Del_p.R51del	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GGATTTGGGCCCGGGATGCCTGT	0.502																																							uc001xif.1		NA																	5	Substitution - Missense(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	lung(1)	1						c.(178-180)CGGdel		MAX protein isoform a																																				SO:0001651	inframe_deletion	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544746_65544748delCCG		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.178_180delCGG	14.37:g.65544746_65544748delCCG	ENSP00000351490:p.Arg60del					MAX_uc001xic.1_Intron|MAX_uc001xie.1_In_Frame_Del_p.R60del|MAX_uc010aql.1_Intron|MAX_uc001xig.1_In_Frame_Del_p.R51del|MAX_uc001xih.1_RNA|MAX_uc001xii.1_In_Frame_Del_p.R51del|MAX_uc001xij.1_In_Frame_Del_p.R60del	p.R60del	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	348_350	-			60			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	In_Frame_Del	DEL	ENST00000358664.4	37	c.178_180delCGG	CCDS9771.1																																																																																				0.502	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		33	28	NA	NA	NA	NA	NA	33	28	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																							uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1360-1362)CTAfs		cell division cycle protein 27 isoform 2							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	p.L454fs	NM_001256	NP_001247	P30260	CDC27_HUMAN			11	1488	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	47	NA	NA	NA	NA	NA	10	47	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242466	55242474	+	In_Frame_Del	DEL	GAATTAAGA	GAATTAAGA	-	rs121913438|rs121913439|rs397517098|rs121913423|rs121913422|rs121913421|rs397517094|rs121913427|rs121913426|rs121913425|rs121913424|rs397517097|rs397509368|rs121913436|rs121913437|rs397517096|rs121913441|rs121913440|rs121913442|rs121913435|rs397517095		TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	GAATTAAGA	GAATTAAGA	-	-	GAATTAAGA	GAATTAAGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr7:55242466_55242474delGAATTAAGA	ENST00000275493.2	+	19	2413_2421	c.2236_2244delGAATTAAGA	c.(2236-2244)gaattaagadel	p.ELR746del	EGFR_ENST00000455089.1_In_Frame_Del_p.ELR701del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELR693del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGCTATCAAGGAATTAAGAGAAGCAACAT	0.478	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1565	Deletion - In frame(1159)|Complex - deletion inframe(386)|Substitution - Missense(15)|Insertion - In frame(4)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)	lung(1538)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2236-2244)GAATTAAGAdel		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242466_55242474delGAATTAAGA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2236_2244delGAATTAAGA	7.37:g.55242466_55242474delGAATTAAGA	ENSP00000275493:p.Glu746_Arg748del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELR701del|EGFR_uc011kco.1_In_Frame_Del_p.ELR693del	p.ELR746del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2482_2490	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		746_748		R -> P (found in a lung cancer sample).|Missing (found in a lung cancer sample).|Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2236_2244delGAATTAAGA	CCDS5514.1																																																																																				0.478	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		26	69	NA	NA	NA	NA	NA	26	69	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74114596	74114608	+	Frame_Shift_Del	DEL	CACAGTGGTACCT	CACAGTGGTACCT	-			TCGA-75-6212-01A-11D-1753-08	TCGA-75-6212-10A-01D-1753-08	CACAGTGGTACCT	CACAGTGGTACCT	-	-	CACAGTGGTACCT	CACAGTGGTACCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0f2af4c9-05a8-4c97-ac2d-af9241b4ea64	20817c66-3be1-4450-8be9-a922838cec1f	g.chr7:74114596_74114608delCACAGTGGTACCT	ENST00000324896.4	+	5	782_794	c.393_405delCACAGTGGTACCT	c.(391-405)tccacagtggtacctfs	p.STVVP131fs	GTF2I_ENST00000416070.1_Frame_Shift_Del_p.STVVP131fs|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.STVVP131fs|GTF2I_ENST00000443166.1_Frame_Shift_Del_p.STVVP131fs|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.STVVP131fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	131					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TAGGCAAATCCACAGTGGTACCTGTACCATATG	0.46																																							uc003uau.2		NA																	0					0						c.(391-405)TCCACAGTGGTACCTfs		general transcription factor IIi isoform 1																																				SO:0001589	frameshift_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114596_74114608delCACAGTGGTACCT	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.393_405delCACAGTGGTACCT	7.37:g.74114596_74114608delCACAGTGGTACCT	ENSP00000322542:p.Ser131fs					GTF2I_uc003uat.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uav.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uaw.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uay.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uax.2_Frame_Shift_Del_p.S131fs|uc003uaz.2_RNA	p.S131fs	NM_032999	NP_127492	P78347	GTF2I_HUMAN			5	763_775	+			131_135			GTF2I-like 1.		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	ENST00000324896.4	37	c.393_405delCACAGTGGTACCT	CCDS5573.1																																																																																				0.460	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		11	96	NA	NA	NA	NA	NA	11	96	---	---	---	---
