#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
FOXJ3	22887	broad.mit.edu	37	1	42693556	42693556	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:42693556G>A	ENST00000372572.1	-	7	837	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	FOXJ3_ENST00000361776.1_Missense_Mutation_p.R176W|FOXJ3_ENST00000545068.1_Missense_Mutation_p.R176W|FOXJ3_ENST00000372573.1_Missense_Mutation_p.R176W|FOXJ3_ENST00000361346.1_Missense_Mutation_p.R176W	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	176					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTTACCCGTTCTACAGAT	0.393																																						uc001che.2																			0				ovary(2)	2						c.(526-528)CGG>TGG		forkhead box J3							100.0	90.0	94.0					1																	42693556		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42693556G>A	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.526C>T	1.37:g.42693556G>A	ENSP00000361653:p.Arg176Trp					FOXJ3_uc001chf.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.2_Missense_Mutation_p.R176W|FOXJ3_uc001chh.1_Missense_Mutation_p.R176W	p.R176W	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			7	838	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	176					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.526C>T	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534159	0.85812	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95137	-3.51;-3.51;-3.51;-3.42;-3.51;-3.62	5.87	5.87	0.94306	.	1.220620	0.05577	N	0.572128	D	0.96682	0.8917	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.961;0.967	D	0.90516	0.4485	10	0.72032	D	0.01	.	17.686	0.88256	0.0:0.0:1.0:0.0	.	176;176	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	W	176	ENSP00000361654:R176W;ENSP00000361653:R176W;ENSP00000354620:R176W;ENSP00000354449:R176W;ENSP00000439044:R176W;ENSP00000393408:R176W	ENSP00000354620:R176W	R	-	1	2	FOXJ3	42466143	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.962000	0.49176	2.767000	0.95098	0.655000	0.94253	CGG		0.393	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
NSUN4	387338	broad.mit.edu	37	1	46810560	46810560	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:46810560C>T	ENST00000474844.1	+	2	831	c.181C>T	c.(181-183)Cca>Tca	p.P61S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.P12S|NSUN4_ENST00000537428.1_Missense_Mutation_p.P12S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	61					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATCTTTGGCCATCAATCCG	0.488																																						uc001cpr.1																			0					0						c.(181-183)CCA>TCA		NOL1/NOP2/Sun domain family 4 protein							181.0	172.0	175.0					1																	46810560		2203	4300	6503	SO:0001583	missense	387338						methyltransferase activity	g.chr1:46810560C>T	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.181C>T	1.37:g.46810560C>T	ENSP00000419740:p.Pro61Ser					NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA	p.P61S	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN			2	290	+	Acute lymphoblastic leukemia(166;0.155)		61					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	ENST00000474844.1	37	c.181C>T	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700188	0.88924	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.14766	2.5;2.48;2.48	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.42581	1.335	0.80722	D	1	D	0.54772	0.968	P	0.46208	0.507	T	0.00505	-1.1700	10	0.38643	T	0.18	-9.6387	18.9929	0.92801	0.0:1.0:0.0:0.0	.	61	Q96CB9	NSUN4_HUMAN	S	61;12;12	ENSP00000419740:P61S;ENSP00000438912:P12S;ENSP00000437758:P12S	ENSP00000419740:P61S	P	+	1	0	NSUN4	46583147	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.400000	0.66320	2.597000	0.87782	0.563000	0.77884	CCA		0.488	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044	
COL11A1	1301	broad.mit.edu	37	1	103487313	103487313	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:103487313C>A	ENST00000370096.3	-	9	1570	c.1258G>T	c.(1258-1260)Ggt>Tgt	p.G420C	COL11A1_ENST00000358392.2_Missense_Mutation_p.G432C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G381C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G304C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	420	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCATATGCACCATGGCCATTT	0.343																																						uc001dul.2																			0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1258-1260)GGT>TGT		alpha 1 type XI collagen isoform A							144.0	135.0	138.0					1																	103487313		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103487313C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1258G>T	1.37:g.103487313C>A	ENSP00000359114:p.Gly420Cys					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G432C|COL11A1_uc001dun.2_Missense_Mutation_p.G381C|COL11A1_uc009weh.2_Missense_Mutation_p.G304C	p.G420C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	9	1576	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	420			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1258G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712213	0.68730	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64;-4.64	5.28	5.28	0.74379	.	0.285219	0.33005	N	0.005381	D	0.98579	0.9525	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.998	P;D;D;P	0.63877	0.831;0.919;0.919;0.831	D	0.99320	1.0906	10	0.66056	D	0.02	.	18.9067	0.92466	0.0:1.0:0.0:0.0	.	304;381;432;420	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	C	420;432;381;304;432	ENSP00000359114:G420C;ENSP00000351163:G432C;ENSP00000302551:G381C;ENSP00000426533:G304C;ENSP00000408640:G432C	ENSP00000302551:G381C	G	-	1	0	COL11A1	103259901	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.376000	0.73141	2.466000	0.83321	0.637000	0.83480	GGT		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
HSPA6	3310	broad.mit.edu	37	1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:161495457G>A	ENST00000309758.4	+	1	1422	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	337					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597																																						uc001gap.2																			0				skin(1)	1						c.(1009-1011)GTC>ATC		heat shock 70kDa protein 6 (HSP70B')							42.0	44.0	43.0					1																	161495457		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495457G>A		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1009G>A	1.37:g.161495457G>A	ENSP00000310219:p.Val337Ile					HSPA6_uc001gaq.2_Missense_Mutation_p.V337I	p.V337I	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1669	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		337					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.1009G>A	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	10.75	1.437754	0.25900	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10763	2.84	3.23	0.853	0.19001	Heat shock protein 70, conserved site (1);	0.211697	0.22294	N	0.061958	T	0.04092	0.0114	M	0.69185	2.1	0.36022	D	0.838798	B	0.13145	0.007	B	0.17433	0.018	T	0.11324	-1.0592	10	0.87932	D	0	.	2.8879	0.05667	0.2164:0.0:0.5343:0.2492	.	337	P17066	HSP76_HUMAN	I	337;313	ENSP00000310219:V337I	ENSP00000310219:V337I	V	+	1	0	HSPA6	159762081	1.000000	0.71417	0.223000	0.23860	0.706000	0.40770	5.335000	0.65929	-0.096000	0.12329	-0.399000	0.06403	GTC		0.597	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155	
CFHR2	3080	broad.mit.edu	37	1	196927110	196927110	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:196927110G>T	ENST00000367415.5	+	4	620	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	CFHR2_ENST00000367421.3_Missense_Mutation_p.V174F|CFHR2_ENST00000476712.2_Missense_Mutation_p.V158F|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	174	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGGTTCATCAGTTGAGTACCA	0.403																																						uc001gtq.1																			0				skin(2)|ovary(1)	3						c.(520-522)GTT>TTT		H factor (complement)-like 3 precursor							175.0	158.0	164.0					1																	196927110		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196927110G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.520G>T	1.37:g.196927110G>T	ENSP00000356385:p.Val174Phe					CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	p.V174F	NM_005666	NP_005657	P36980	FHR2_HUMAN			4	597	+			174			Sushi 3.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.520G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.654793	0.29425	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.70986	-0.53;-0.53	4.25	4.25	0.50352	Complement control module (2);Sushi/SCR/CCP (3);	0.280912	0.18984	N	0.125790	T	0.80819	0.4696	H	0.98866	4.355	0.18873	N	0.999981	B;B	0.29805	0.001;0.257	B;B	0.26416	0.006;0.069	T	0.77895	-0.2417	10	0.87932	D	0	.	9.5824	0.39495	0.0:0.0:0.7902:0.2098	.	147;174	P36980-2;P36980	.;FHR2_HUMAN	F	174	ENSP00000356391:V174F;ENSP00000356385:V174F	ENSP00000356385:V174F	V	+	1	0	CFHR2	195193733	0.994000	0.37717	0.120000	0.21714	0.041000	0.13682	2.564000	0.45931	1.881000	0.54492	0.514000	0.50259	GTT		0.403	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666	
YME1L1	10730	broad.mit.edu	37	10	27415646	27415646	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:27415646G>A	ENST00000326799.3	-	10	1247	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	YME1L1_ENST00000375972.3_Missense_Mutation_p.L277F|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.L310F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	367					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTACCTCCAAGAATAGTAAAT	0.274																																						uc001iti.2																			0				ovary(1)	1						c.(1099-1101)CTT>TTT		YME1-like 1 isoform 1							44.0	45.0	44.0					10																	27415646		2198	4289	6487	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27415646G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1099C>T	10.37:g.27415646G>A	ENSP00000318480:p.Leu367Phe					YME1L1_uc001itj.2_Missense_Mutation_p.L310F|YME1L1_uc010qdl.1_Missense_Mutation_p.L277F|YME1L1_uc009xkv.2_RNA	p.L367F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			10	1281	-			367					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1099C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102961	0.76983	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.80123	-1.34;-1.34;-1.34	4.89	4.89	0.63831	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.989	D	0.87747	0.2589	10	0.87932	D	0	-17.9958	10.203	0.43097	0.1564:0.0:0.8436:0.0	.	277;310;367	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	F	310;367;367;277;113	ENSP00000365184:L310F;ENSP00000318480:L367F;ENSP00000365139:L277F	ENSP00000318480:L367F	L	-	1	0	YME1L1	27455652	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	4.642000	0.61383	2.392000	0.81423	0.591000	0.81541	CTT		0.274	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	
DRGX	644168	broad.mit.edu	37	10	50599244	50599244	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:50599244T>G	ENST00000374139.2	-	2	108	c.98A>C	c.(97-99)cAg>cCg	p.Q33P	DRGX_ENST00000434016.1_Missense_Mutation_p.Q38P			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	33					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTCCGGCGCTGTTTTCTACG	0.507																																						uc010qgq.1																			0					0						c.(112-114)CAG>CCG		dorsal root ganglia homeobox							59.0	58.0	59.0					10																	50599244		1924	4122	6046	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50599244T>G		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.98A>C	10.37:g.50599244T>G	ENSP00000363254:p.Gln33Pro						p.Q38P	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			2	113	-			38						Missense_Mutation	SNP	ENST00000374139.2	37	c.113A>C		.	.	.	.	.	.	.	.	.	.	T	27.6	4.842725	0.91197	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95588	-3.75;-3.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96648	0.9479	10	0.72032	D	0.01	.	16.17	0.81801	0.0:0.0:0.0:1.0	.	38	C9JW76	.	P	33;38	ENSP00000363254:Q33P;ENSP00000401653:Q38P	ENSP00000363254:Q33P	Q	-	2	0	DRGX	50269250	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.434000	0.80377	2.224000	0.72417	0.459000	0.35465	CAG		0.507	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970	
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						uc001jif.2																			1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(1750-1752)GCA>ACA		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr					PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	p.A584T	NM_003631	NP_003622	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	2011	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.1750G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
MUC5B	727897	broad.mit.edu	37	11	1274084	1274084	+	Missense_Mutation	SNP	G	G	A	rs369603904		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:1274084G>A	ENST00000529681.1	+	33	15149	c.15091G>A	c.(15091-15093)Gtg>Atg	p.V5031M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5034M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5031					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCAGGTGCGTGGGTGACAA	0.632																																						uc009ycr.1																			0					0						c.(16057-16059)GTG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;		G	MET/VAL	0,4278		0,0,2139	56.0	66.0	63.0		15091	3.9	0.1	11		63	2,8450		0,2,4224	no	missense	MUC5B	NM_002458.2	21	0,2,6363	AA,AG,GG		0.0237,0.0,0.0157	probably-damaging	5031/5763	1274084	2,12728	2139	4226	6365	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1274084G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15091G>A	11.37:g.1274084G>A	ENSP00000436812:p.Val5031Met					MUC5B_uc001ltb.2_Missense_Mutation_p.V5034M	p.V5353M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	54	16183	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5031					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16057G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040801	0.19669	0.0	2.37E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	4.86	3.93	0.45458	.	.	.	.	.	T	0.16214	0.0390	L	0.36672	1.1	0.09310	N	1	D;D	0.63880	0.993;0.993	B;B	0.44278	0.352;0.445	T	0.08806	-1.0704	9	0.87932	D	0	.	9.5817	0.39493	0.0:0.161:0.6837:0.1553	.	5353;5034	A7Y9J9;E9PBJ0	.;.	M	5031;5034;4975;4730	ENSP00000436812:V5031M;ENSP00000415793:V5034M	ENSP00000343037:V4975M	V	+	1	0	MUC5B	1230660	0.002000	0.14202	0.112000	0.21494	0.032000	0.12392	0.755000	0.26405	1.310000	0.45006	0.561000	0.74099	GTG		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MS4A1	931	broad.mit.edu	37	11	60231772	60231772	+	Silent	SNP	C	C	T	rs201962059		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:60231772C>T	ENST00000534668.1	+	4	580	c.291C>T	c.(289-291)tcC>tcT	p.S97S	MS4A1_ENST00000389939.2_Silent_p.S97S|MS4A1_ENST00000532073.1_Silent_p.S97S|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Silent_p.S97S	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	97					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	ATATTATTTCCGGATCACTCC	0.438																																						uc001npp.2																			0				ovary(3)|lung(2)	5						c.(289-291)TCC>TCT		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						70.0	69.0	69.0					11																	60231772		2203	4300	6503	SO:0001819	synonymous_variant	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60231772C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.291C>T	11.37:g.60231772C>T						MS4A1_uc009ymy.1_3'UTR|MS4A1_uc001npq.2_Silent_p.S97S|MS4A1_uc009yna.2_Silent_p.S97S|MS4A1_uc009ymz.2_Silent_p.S97S|MS4A1_uc010rlc.1_Intron	p.S97S	NM_152866	NP_690605	P11836	CD20_HUMAN			5	707	+			97			Helical; (Potential).		A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	ENST00000534668.1	37	c.291C>T	CCDS31570.1																																																																																				0.438	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1		
PC	5091	broad.mit.edu	37	11	66637883	66637883	+	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:66637883A>C	ENST00000393958.2	-	8	886	c.793T>G	c.(793-795)Tgc>Ggc	p.C265G	PC_ENST00000393960.1_Missense_Mutation_p.C265G|PC_ENST00000355677.3_Missense_Mutation_p.C265G|PC_ENST00000524491.1_Missense_Mutation_p.C225G|PC_ENST00000393955.2_Missense_Mutation_p.C265G	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	265	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGATGGAGCAGTCTCGCTCG	0.602																																						uc001ojn.1																			0				ovary(2)|lung(1)|kidney(1)	4						c.(793-795)TGC>GGC		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						59.0	55.0	56.0					11																	66637883		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66637883A>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.793T>G	11.37:g.66637883A>C	ENSP00000377530:p.Cys265Gly					PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	p.C265G	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	842	-		Melanoma(852;0.0525)	265			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.793T>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.977370	0.92982	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.81	5.81	0.92471	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99323	1.0907	10	0.87932	D	0	-29.106	14.1162	0.65154	1.0:0.0:0.0:0.0	.	265	P11498	PYC_HUMAN	G	265;265;265;225;265	ENSP00000377527:C265G;ENSP00000377530:C265G;ENSP00000377532:C265G;ENSP00000434192:C225G;ENSP00000347900:C265G	ENSP00000347900:C265G	C	-	1	0	PC	66394459	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.764000	0.91719	2.225000	0.72522	0.379000	0.24179	TGC		0.602	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
IQSEC3	440073	broad.mit.edu	37	12	247990	247990	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:247990C>T	ENST00000538872.1	+	4	1579	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.D184D|IQSEC3_ENST00000326261.4_Silent_p.D487D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	487					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTTTCCGGGACGTCACGGTGC	0.731																																						uc001qhw.1																			0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(550-552)GAC>GAT		IQ motif and Sec7 domain 3							38.0	34.0	35.0					12																	247990		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247990C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1461C>T	12.37:g.247990C>T						IQSEC3_uc001qhu.1_Silent_p.D184D|IQSEC3_uc001qht.1_Silent_p.D269D|uc001qhv.1_Intron	p.D184D	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	558	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		487					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.552C>T	CCDS53728.1																																																																																				0.731	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
APOBEC1	339	broad.mit.edu	37	12	7805403	7805403	+	Missense_Mutation	SNP	C	C	T	rs200390394		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:7805403C>T	ENST00000229304.4	-	3	93	c.73G>A	c.(73-75)Gtc>Atc	p.V25I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	25					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATAGAAGACGTCAAACTCC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0				Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			0					0						c.(73-75)GTC>ATC		apolipoprotein B mRNA editing enzyme		C	ILE/VAL	0,4404		0,0,2202	48.0	49.0	48.0		73	-3.5	0.0	12		48	1,8597		0,1,4298	yes	missense	APOBEC1	NM_001644.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	25/237	7805403	1,13001	2202	4299	6501	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805403C>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.73G>A	12.37:g.7805403C>T	ENSP00000229304:p.Val25Ile					APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.V25I	p.V25I	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	107	-			25					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.73G>A	CCDS8579.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.098	-1.156794	0.01686	0.0	1.16E-4	ENSG00000111701	ENST00000229304	T	0.62105	0.05	4.48	-3.52	0.04682	APOBEC-like, N-terminal (1);	2.818700	0.01049	N	0.004438	T	0.45377	0.1339	L	0.31294	0.92	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.10989	-1.0606	10	0.22706	T	0.39	1.3562	4.4737	0.11724	0.253:0.4743:0.0:0.2727	.	25	P41238	ABEC1_HUMAN	I	25	ENSP00000229304:V25I	ENSP00000229304:V25I	V	-	1	0	APOBEC1	7696670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.546000	0.06062	-0.539000	0.06273	-1.327000	0.01280	GTC		0.483	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644	
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	rs149542398	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:33031888C>T	ENST00000070846.6	-	2	326	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_ENST00000340811.4_Missense_Mutation_p.R101H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	101					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378																																						uc001rlj.3																			0				ovary(1)|pancreas(1)	2						c.(301-303)CGT>CAT		plakophilin 2 isoform 2b		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	92.0	93.0		302,302	0.7	0.0	12	dbSNP_134	93	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PKP2	NM_001005242.2,NM_004572.3	29,29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging	101/838,101/882	33031888	5,13001	2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031888C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.302G>A	12.37:g.33031888C>T	ENSP00000070846:p.Arg101His					PKP2_uc001rlk.3_Missense_Mutation_p.R101H|PKP2_uc010skj.1_Missense_Mutation_p.R101H	p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN			2	417	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		101					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.302G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893267	0.52121	2.27E-4	4.65E-4	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80994	-1.44;-1.4	5.7	0.708	0.18144	.	1.351310	0.04721	N	0.419289	T	0.71434	0.3339	L	0.47716	1.5	0.09310	N	1	B;B;B	0.18013	0.025;0.014;0.014	B;B;B	0.10450	0.005;0.002;0.003	T	0.52351	-0.8587	10	0.37606	T	0.19	-0.1096	1.4068	0.02283	0.1432:0.4165:0.1395:0.3008	.	101;101;101	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	101	ENSP00000342800:R101H;ENSP00000070846:R101H	ENSP00000070846:R101H	R	-	2	0	PKP2	32923155	0.000000	0.05858	0.004000	0.12327	0.872000	0.50106	-0.209000	0.09358	0.334000	0.23590	0.650000	0.86243	CGT		0.378	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
PDZRN4	29951	broad.mit.edu	37	12	41967460	41967460	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:41967460G>A	ENST00000402685.2	+	10	2887	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R702H|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R700H	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	960	Poly-Arg.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGCCGTCGCCGTGAGTTCATG	0.527																																						uc010skn.1																			0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2281-2283)CGT>CAT		PDZ domain containing RING finger 4 isoform 2							76.0	70.0	72.0					12																	41967460		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967460G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2879G>A	12.37:g.41967460G>A	ENSP00000384197:p.Arg960His					PDZRN4_uc001rmq.3_Missense_Mutation_p.R702H|PDZRN4_uc009zjz.2_Missense_Mutation_p.R700H|PDZRN4_uc001rmr.2_Missense_Mutation_p.R587H	p.R761H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2350	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	960			Poly-Arg.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2282G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969196	0.53614	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.42900	0.96;0.96;0.96	4.9	4.9	0.64082	.	0.090204	0.46758	D	0.000278	T	0.67439	0.2893	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.999;1.0	T	0.71755	-0.4497	10	0.87932	D	0	-19.2693	18.9769	0.92740	0.0:0.0:1.0:0.0	.	960;700;702	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	H	960;702;700	ENSP00000384197:R960H;ENSP00000439990:R702H;ENSP00000298919:R700H	ENSP00000298919:R700H	R	+	2	0	PDZRN4	40253727	1.000000	0.71417	0.520000	0.27837	0.035000	0.12851	9.813000	0.99286	2.656000	0.90262	0.557000	0.71058	CGT		0.527	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
ORAI1	84876	broad.mit.edu	37	12	122079482	122079482	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:122079482C>T	ENST00000330079.7	+	2	1038	c.845C>T	c.(844-846)gCc>gTc	p.A282V		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	280	Interaction with STIM1.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCGGAGTTTGCCCGCTTACAG	0.607																																						uc010szz.1																			0					0						c.(838-840)GCC>GTC		calcium release-activated calcium channel							73.0	79.0	77.0					12																	122079482		2095	4229	6324	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079482C>T	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.845C>T	12.37:g.122079482C>T	ENSP00000328216:p.Ala282Val						p.A280V	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	3	1032	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		280			Cytoplasmic (Potential).		Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.839C>T	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157253	0.38119	.	.	ENSG00000182500	ENST00000330079	T	0.32272	1.46	5.29	5.29	0.74685	.	0.157943	0.56097	D	0.000026	T	0.22781	0.0550	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	P	0.46144	0.505	T	0.05784	-1.0864	10	0.25106	T	0.35	-28.3482	19.2953	0.94119	0.0:1.0:0.0:0.0	.	280	Q96D31	CRCM1_HUMAN	V	282	ENSP00000328216:A282V	ENSP00000328216:A282V	A	+	2	0	ORAI1	120563865	1.000000	0.71417	0.916000	0.36221	0.130000	0.20726	7.257000	0.78362	2.640000	0.89533	0.467000	0.42956	GCC		0.607	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
FOXO1	2308	broad.mit.edu	37	13	41134348	41134348	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr13:41134348C>A	ENST00000379561.5	-	2	1664	c.1280G>T	c.(1279-1281)gGc>gTc	p.G427V	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	427	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GCTGGATTGGCCATATGTATA	0.488																																						uc001uxl.3																		PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(1279-1281)GGC>GTC		forkhead box O1							129.0	115.0	120.0					13																	41134348		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41134348C>A		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1280G>T	13.37:g.41134348C>A	ENSP00000368880:p.Gly427Val					FOXO1_uc010acc.1_Missense_Mutation_p.G242V	p.G427V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1665	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	427					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1280G>T	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468161	0.43839	.	.	ENSG00000150907	ENST00000379561	D	0.94613	-3.47	5.78	5.78	0.91487	.	0.265875	0.42682	D	0.000663	D	0.94092	0.8106	M	0.74881	2.28	0.80722	D	1	P;B	0.45827	0.867;0.335	B;B	0.43103	0.408;0.116	D	0.94201	0.7450	10	0.62326	D	0.03	-16.1977	13.8862	0.63710	0.0:0.747:0.253:0.0	.	401;427	F8TAD1;Q12778	.;FOXO1_HUMAN	V	427	ENSP00000368880:G427V	ENSP00000368880:G427V	G	-	2	0	FOXO1	40032348	1.000000	0.71417	0.992000	0.48379	0.779000	0.44077	3.203000	0.51075	2.749000	0.94314	0.655000	0.94253	GGC		0.488	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015	
FSCB	84075	broad.mit.edu	37	14	44974303	44974303	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr14:44974303C>T	ENST00000340446.4	-	1	2179	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	630	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A630T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.642																																						uc001wvn.2																			1	Substitution - Missense(1)		skin(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1888-1890)GCC>ACC		fibrous sheath CABYR binding protein																																				SO:0001583	missense	84075					cilium		g.chr14:44974303C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1888G>A	14.37:g.44974303C>T	ENSP00000344579:p.Ala630Thr						p.A630T	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2197	-			630			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1888G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683531	0.29872	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14144	2.53	4.68	-1.29	0.09288	.	.	.	.	.	T	0.11623	0.0283	L	0.59436	1.845	0.09310	N	1	B	0.21905	0.062	B	0.23419	0.046	T	0.38436	-0.9661	9	0.23891	T	0.37	1.0392	4.1556	0.10260	0.4525:0.3461:0.1228:0.0786	.	630	Q5H9T9	FSCB_HUMAN	T	630;523	ENSP00000344579:A630T	ENSP00000344579:A630T	A	-	1	0	FSCB	44044053	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.449000	0.06812	-0.349000	0.08274	0.505000	0.49811	GCC		0.642	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
HERC2P3	283755	broad.mit.edu	37	15	20645788	20645788	+	RNA	SNP	G	G	A	rs539212963		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:20645788G>A	ENST00000428453.1	-	0	2977							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGAGCAGCGTGATCCACTG	0.617													.|||	1	0.000199681	0.0	0.0	5008	,	,		28152	0.0		0.001	False		,,,				2504	0.0					uc001ytg.2																			0											c.(2287-2289)ACG>ATG		RecName: Full=Putative HERC2-like protein 3;							55.0	35.0	42.0					15																	20645788		2197	4273	6470			0							g.chr15:20645788G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645788G>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.T763M|uc010tyy.1_Missense_Mutation_p.T763M	p.T763M							20	2997	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2288C>T																																																																																					0.617	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
CSPG4	1464	broad.mit.edu	37	15	75974722	75974722	+	Missense_Mutation	SNP	C	C	T	rs143855050	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:75974722C>T	ENST00000308508.5	-	8	4954	c.4862G>A	c.(4861-4863)cGt>cAt	p.R1621H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1621	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGCACCACACGGTAGAGCAG	0.662													C|||	9	0.00179712	0.0	0.0	5008	,	,		17643	0.0		0.004	False		,,,				2504	0.0051					uc002baw.2																			0				ovary(2)|pancreas(1)	3						c.(4861-4863)CGT>CAT		chondroitin sulfate proteoglycan 4 precursor		C	HIS/ARG	5,4389	9.9+/-24.2	0,5,2192	39.0	43.0	41.0		4862	-5.1	0.0	15	dbSNP_134	41	32,8554	21.6+/-65.8	0,32,4261	no	missense	CSPG4	NM_001897.4	29	0,37,6453	TT,TC,CC		0.3727,0.1138,0.2851	benign	1621/2323	75974722	37,12943	2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75974722C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4862G>A	15.37:g.75974722C>T	ENSP00000312506:p.Arg1621His						p.R1621H	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			8	4955	-			1621			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4862G>A	CCDS10284.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.268	-0.994608	0.02145	0.001138	0.003727	ENSG00000173546	ENST00000308508	T	0.18810	2.19	4.91	-5.09	0.02920	.	1.433720	0.04499	N	0.380891	T	0.12305	0.0299	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32295	-0.9912	10	0.14252	T	0.57	.	7.9779	0.30166	0.1051:0.409:0.0:0.4859	.	1621	Q6UVK1	CSPG4_HUMAN	H	1621	ENSP00000312506:R1621H	ENSP00000312506:R1621H	R	-	2	0	CSPG4	73761777	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.760000	0.00786	-0.708000	0.05015	-2.250000	0.00283	CGT		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
CHRNB4	1143	broad.mit.edu	37	15	78921864	78921864	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:78921864G>A	ENST00000261751.3	-	5	894	c.783C>T	c.(781-783)ggC>ggT	p.G261G	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	261					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TCATCTTCTCGCCGCAGTCGG	0.567																																						uc002bed.1																			0					0						c.(781-783)GGC>GGT		cholinergic receptor, nicotinic, beta 4							245.0	192.0	210.0					15																	78921864		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921864G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.783C>T	15.37:g.78921864G>A						CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G79G	p.G261G	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	895	-			261			Cytoplasmic (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.783C>T	CCDS10306.1																																																																																				0.567	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1		
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						uc002cdi.2																			4	Substitution - coding silent(4)		endometrium(3)|kidney(1)		0						c.(748-750)CCG>CCT		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T						WASH3P_uc002cdl.2_Silent_p.P250P|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Silent_p.P250P|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.P250P	NR_003659						11	2170	+									Silent	SNP	ENST00000557932.1	37	c.750G>T																																																																																					0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						uc010bvf.1																			2	Substitution - Missense(2)		kidney(2)								c.(811-813)GCT>GTT		RecName: Full=NPIP-like protein 1;																																				SO:0001583	missense	0							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.A271V							9	812	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.812C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1		
CACNG3	10368	broad.mit.edu	37	16	24372858	24372858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:24372858C>T	ENST00000005284.3	+	4	1824	c.622C>T	c.(622-624)Cga>Tga	p.R208*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCAGCAGTTACGAGCCAAATC	0.488																																						uc002dmf.2																			0					0						c.(622-624)CGA>TGA		voltage-dependent calcium channel gamma-3							121.0	113.0	116.0					16																	24372858		2197	4300	6497	SO:0001587	stop_gained	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372858C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.622C>T	16.37:g.24372858C>T	ENSP00000005284:p.Arg208*						p.R208*	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1822	+			208						Nonsense_Mutation	SNP	ENST00000005284.3	37	c.622C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	47	13.570529	0.99750	.	.	ENSG00000006116	ENST00000005284	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4112	17.8423	0.88718	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000005284:R208X	R	+	1	2	CACNG3	24280359	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.487000	0.81328	2.274000	0.75844	0.655000	0.94253	CGA		0.488	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
ABCC11	85320	broad.mit.edu	37	16	48210869	48210869	+	Silent	SNP	G	G	A	rs143002804		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:48210869G>A	ENST00000394747.1	-	24	3853	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.H1168H|ABCC11_ENST00000356608.2_Silent_p.H1168H|ABCC11_ENST00000394748.1_Silent_p.H1168H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1168	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.H1168H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCACCACTTCGTGGCCGCGGA	0.562																																						uc002eff.1																			1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3502-3504)CAC>CAT		ATP-binding cassette, sub-family C, member 11		G	,,	1,4401	2.1+/-5.4	0,1,2200	128.0	101.0	110.0		3504,3504,3504	-9.0	0.0	16	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,,	1168/1383,1168/1383,1168/1345	48210869	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48210869G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3504C>T	16.37:g.48210869G>A						ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_RNA	p.H1168H	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			24	3854	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1168			ABC transporter 2.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3504C>T	CCDS10732.1																																																																																				0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
MAPK7	5598	broad.mit.edu	37	17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:19284297C>T	ENST00000308406.5	+	4	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.R259C|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.R120C|MAPK7_ENST00000395604.3_Missense_Mutation_p.R259C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	259	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567																																						uc002gvn.2																			0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(775-777)CGC>TGC		mitogen-activated protein kinase 7 isoform 1							36.0	37.0	37.0					17																	19284297		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284297C>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.775C>T	17.37:g.19284297C>T	ENSP00000311005:p.Arg259Cys					B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.R120C|MAPK7_uc002gvq.2_Missense_Mutation_p.R259C|MAPK7_uc002gvp.2_Missense_Mutation_p.R259C	p.R259C	NM_139033	NP_620602	Q13164	MK07_HUMAN			4	1161	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		259			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.775C>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611533	0.66558	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111501	0.64402	D	0.000019	T	0.79058	0.4382	M	0.79614	2.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.81491	-0.0909	10	0.87932	D	0	-15.6432	10.8063	0.46520	0.189:0.8109:0.0:0.0	.	259	Q13164	MK07_HUMAN	C	259;120;259;259	ENSP00000311005:R259C;ENSP00000299612:R120C;ENSP00000378968:R259C;ENSP00000378966:R259C	ENSP00000299612:R120C	R	+	1	0	MAPK7	19224890	0.977000	0.34250	1.000000	0.80357	0.964000	0.63967	2.479000	0.45197	2.335000	0.79485	0.561000	0.74099	CGC		0.567	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033	
GAS2L2	246176	broad.mit.edu	37	17	34072485	34072485	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:34072485C>T	ENST00000254466.6	-	6	2058	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	GAS2L2_ENST00000587565.1_Silent_p.P661P	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	677					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGCCAGTCGGGGCTGCCT	0.612																																						uc002hjv.1																			0				ovary(1)|skin(1)	2						c.(2029-2031)CCG>CCA		growth arrest-specific 2 like 2							75.0	88.0	83.0					17																	34072485		2203	4298	6501	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072485C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2031G>A	17.37:g.34072485C>T							p.P677P	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2059	-		Ovarian(249;0.17)	677					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.2031G>A	CCDS11298.1																																																																																				0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
LHX1	3975	broad.mit.edu	37	17	35297618	35297618	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:35297618C>G	ENST00000254457.5	+	2	1613	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	68	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCTGCGCTCAGGGCATCTC	0.652																																						uc002hnh.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(202-204)CAG>GAG		LIM homeobox protein 1							38.0	32.0	34.0					17																	35297618		2202	4300	6502	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297618C>G	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.202C>G	17.37:g.35297618C>G	ENSP00000254457:p.Gln68Glu					LHX1_uc010cux.1_5'UTR	p.Q68E	NM_005568	NP_005559	P48742	LHX1_HUMAN			2	1198	+		Breast(25;0.00607)	68			LIM zinc-binding 2.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.202C>G	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955805	0.53293	.	.	ENSG00000132130	ENST00000254457	D	0.86694	-2.16	3.81	3.81	0.43845	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	T	0.81460	0.4827	L	0.39898	1.24	0.80722	D	1	P	0.38148	0.62	B	0.38683	0.279	T	0.78435	-0.2205	10	0.09084	T	0.74	.	16.9873	0.86344	0.0:1.0:0.0:0.0	.	68	P48742	LHX1_HUMAN	E	68	ENSP00000254457:Q68E	ENSP00000254457:Q68E	Q	+	1	0	LHX1	32371731	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.809000	0.69172	2.436000	0.82500	0.561000	0.74099	CAG		0.652	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568	
JUP	3728	broad.mit.edu	37	17	39919367	39919367	+	Silent	SNP	G	G	A	rs77375949	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:39919367G>A	ENST00000393931.3	-	8	1483	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	JUP_ENST00000310706.5_Silent_p.A455A|JUP_ENST00000393930.1_Silent_p.A455A|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	455					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGCGCAGACGGCAGGCTCCG	0.607													G|||	6	0.00119808	0.0015	0.0	5008	,	,		20523	0.003		0.001	False		,,,				2504	0.0				Colon(16;42 520 6044 17852 28530)	uc002hxq.2																			0				ovary(2)|lung(2)|breast(1)	5						c.(1363-1365)GCC>GCT		junction plakoglobin		G	,	1,4405	2.1+/-5.4	0,1,2202	122.0	96.0	105.0		1365,1365	-8.4	0.1	17	dbSNP_132	105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	JUP	NM_002230.2,NM_021991.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	455/746,455/746	39919367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39919367G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1365C>T	17.37:g.39919367G>A						JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	p.A455A	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1642	-		Breast(137;0.000162)	455			ARM 6.		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.1365C>T	CCDS11407.1																																																																																				0.607	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
SPATA32	124783	broad.mit.edu	37	17	43333194	43333194	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:43333194G>A	ENST00000331780.4	-	4	450	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.P98S|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	119					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGTGGCGTGGGCAGCCCCATG	0.557																																						uc002iis.1																			0				large_intestine(1)|ovary(1)	2						c.(355-357)CCC>TCC		hypothetical protein LOC124783							134.0	128.0	130.0					17																	43333194		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43333194G>A	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.355C>T	17.37:g.43333194G>A	ENSP00000331532:p.Pro119Ser					LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.P98S	p.P119S	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	451	-			119					Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.355C>T	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	9.422	1.083247	0.20309	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.41758	1.0;0.99	3.36	-0.741	0.11112	.	2.178560	0.02556	N	0.096212	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	1	B	0.32245	0.361	B	0.29663	0.105	T	0.10683	-1.0619	10	0.07175	T	0.84	-5.0986	5.3065	0.15807	0.0:0.1817:0.3173:0.5009	.	119	Q96LK8	CQ046_HUMAN	S	119;98	ENSP00000331532:P119S;ENSP00000442724:P98S	ENSP00000331532:P119S	P	-	1	0	C17orf46	40688977	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.077000	0.14738	0.113000	0.18004	0.555000	0.69702	CCC		0.557	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343	
HOXB1	3211	broad.mit.edu	37	17	46607745	46607745	+	Silent	SNP	G	G	T	rs199787001		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:46607745G>T	ENST00000239174.6	-	1	614	c.522C>A	c.(520-522)acC>acA	p.T174T	HOXB1_ENST00000577092.1_Silent_p.T174T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	174					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCGTGGGGGTGTTAGGTT	0.592																																						uc002ink.1																			0				ovary(1)	1						c.(520-522)ACC>ACA		homeobox B1							61.0	60.0	60.0					17																	46607745		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607745G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.522C>A	17.37:g.46607745G>T							p.T174T	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	528	-			174					Q4VB03	Silent	SNP	ENST00000239174.6	37	c.522C>A	CCDS32675.1																																																																																				0.592	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3		
KIF19	124602	broad.mit.edu	37	17	72342551	72342551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72342551delC	ENST00000389916.4	+	8	950	c.812delC	c.(811-813)gccfs	p.A271fs		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	271	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGGAGGGGGCCCACATCAAC	0.597																																						uc002jkm.3																			0					0						c.(811-813)GCCfs		kinesin family member 19							62.0	40.0	48.0					17																	72342551		2187	4290	6477	SO:0001589	frameshift_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72342551delC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.812delC	17.37:g.72342551delC	ENSP00000374566:p.Ala271fs					KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	p.A271fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			8	950	+			271			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Frame_Shift_Del	DEL	ENST00000389916.4	37	c.812delC	CCDS32718.2																																																																																				0.597	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
CD300C	10871	broad.mit.edu	37	17	72539125	72539125	+	Splice_Site	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72539125G>A	ENST00000330793.1	-	3	762	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	134	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGGTCGTCCCGGCTGTGGGTG	0.577																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1																			0					0						c.(400-402)GCC>GCT		CD300C antigen precursor							113.0	97.0	102.0					17																	72539125		2203	4300	6503	SO:0001630	splice_region_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539125G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.401-1C>T	17.37:g.72539125G>A							p.A134A	NM_006678	NP_006669	Q08708	CLM6_HUMAN			3	763	-			134			Pro-rich.|Extracellular (Potential).			Silent	SNP	ENST00000330793.1	37	c.402C>T	CCDS11701.1																																																																																				0.577	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678	Silent
C18orf21	83608	broad.mit.edu	37	18	33554930	33554930	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr18:33554930C>T	ENST00000592875.1	+	3	818	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	58										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CTCTCGAGTGCGTCTCAAACC	0.373																																						uc002kzc.2																			0					0						c.(172-174)CGT>TGT		chromosome 18 open reading frame 21							102.0	104.0	103.0					18																	33554930		2203	4300	6503	SO:0001583	missense	83608							g.chr18:33554930C>T	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.172C>T	18.37:g.33554930C>T	ENSP00000465517:p.Arg58Cys					C18orf21_uc002kzd.2_5'UTR	p.R58C	NM_031446	NP_113634	Q32NC0	CR021_HUMAN			3	276	+			58					Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	c.172C>T	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457783	0.84317	.	.	ENSG00000141428	ENST00000333234	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.81645	-0.0839	9	0.87932	D	0	.	16.5327	0.84365	0.0:1.0:0.0:0.0	.	58	Q32NC0	CR021_HUMAN	C	58	.	ENSP00000329492:R58C	R	+	1	0	C18orf21	31808928	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.864000	0.62990	2.580000	0.87095	0.650000	0.86243	CGT		0.373	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446	
MUC16	94025	broad.mit.edu	37	19	9062926	9062926	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:9062926C>T	ENST00000397910.4	-	3	24723	c.24520G>A	c.(24520-24522)Gtg>Atg	p.V8174M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8176	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTGACACTGTGAGCTGA	0.502																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24520-24522)GTG>ATG		mucin 16							129.0	125.0	127.0					19																	9062926		2084	4219	6303	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062926C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24520G>A	19.37:g.9062926C>T	ENSP00000381008:p.Val8174Met						p.V8174M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24724	-			8176			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24520G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.897	-0.022752	0.07634	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	3.31	-6.62	0.01813	.	.	.	.	.	T	0.01287	0.0042	N	0.04880	-0.145	.	.	.	B	0.22414	0.069	B	0.17979	0.02	T	0.47535	-0.9110	8	0.87932	D	0	.	2.195	0.03908	0.1098:0.2957:0.3292:0.2653	.	8174	B5ME49	.	M	8174	ENSP00000381008:V8174M	ENSP00000381008:V8174M	V	-	1	0	MUC16	8923926	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.144000	0.01296	-2.747000	0.00376	0.508000	0.49915	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:16790904C>T	ENST00000187762.2	+	2	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602																																						uc002nes.2																			0				central_nervous_system(2)|ovary(1)	3						c.(232-234)ATC>ATT		transmembrane protein 38A		C		0,4406		0,0,2203	62.0	50.0	54.0		234	-2.2	0.6	19	dbSNP_134	54	1,8599		0,1,4299	no	coding-synonymous	TMEM38A	NM_024074.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		78/300	16790904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16790904C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.234C>T	19.37:g.16790904C>T							p.I78I	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			2	325	+			78			Cytoplasmic (Potential).		A8K9P9	Silent	SNP	ENST00000187762.2	37	c.234C>T	CCDS12349.1																																																																																				0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074	
CCNE1	898	broad.mit.edu	37	19	30313489	30313489	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:30313489C>G	ENST00000262643.3	+	11	1368	c.1089C>G	c.(1087-1089)caC>caG	p.H363Q	CCNE1_ENST00000357943.5_Missense_Mutation_p.H320Q|CCNE1_ENST00000444983.2_Missense_Mutation_p.H348Q	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	363					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TACAGACCCACAGAGACAGCT	0.507			A		serous ovarian																																	uc002nsn.2				Dom	yes		19	19q12	898		cyclin E1			E					0				lung(2)	2						c.(1087-1089)CAC>CAG		cyclin E1 isoform 1							171.0	174.0	173.0					19																	30313489		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313489C>G	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.1089C>G	19.37:g.30313489C>G	ENSP00000262643:p.His363Gln					CCNE1_uc002nso.2_Missense_Mutation_p.H348Q|CCNE1_uc002nsp.2_Missense_Mutation_p.H110Q	p.H363Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		11	1272	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		363					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.1089C>G	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667312	0.47677	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.21932	1.98;1.98;1.98	6.17	-7.68	0.01268	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	M	0.87097	2.86	0.39678	D	0.970864	D	0.89917	1.0	D	0.91635	0.999	T	0.67352	-0.5692	10	0.54805	T	0.06	.	21.3502	0.99952	0.0:0.8558:0.0:0.1442	.	363	P24864	CCNE1_HUMAN	Q	363;320;348	ENSP00000262643:H363Q;ENSP00000350625:H320Q;ENSP00000410179:H348Q	ENSP00000262643:H363Q	H	+	3	2	CCNE1	35005329	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-0.339000	0.07832	-1.579000	0.01646	-0.140000	0.14226	CAC		0.507	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238	
ZNF569	148266	broad.mit.edu	37	19	37904887	37904887	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:37904887G>C	ENST00000316950.6	-	6	1230	c.673C>G	c.(673-675)Cac>Gac	p.H225D	ZNF569_ENST00000392149.2_Missense_Mutation_p.H225D|ZNF569_ENST00000392150.2_Missense_Mutation_p.H66D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCTTGTGACTGAAGGCT	0.348																																						uc002ogi.2																			0				breast(2)|skin(1)	3						c.(673-675)CAC>GAC		zinc finger protein 569							61.0	67.0	65.0					19																	37904887		2202	4299	6501	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904887G>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.673C>G	19.37:g.37904887G>C	ENSP00000325018:p.His225Asp					ZNF569_uc002ogh.2_Missense_Mutation_p.H66D|ZNF569_uc002ogj.2_Missense_Mutation_p.H249D	p.H225D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1231	-			225			C2H2-type 2.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.673C>G	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060602	0.08339	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.19394	2.15;2.15	3.73	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.189760	0.25881	N	0.027683	T	0.09202	0.0227	N	0.10760	0.04	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.22880	0.042;0.025	T	0.21518	-1.0243	10	0.48119	T	0.1	.	4.6964	0.12806	0.2011:0.0:0.6233:0.1756	.	66;225	Q17RR6;Q5MCW4	.;ZN569_HUMAN	D	225;66	ENSP00000325018:H225D;ENSP00000375993:H66D	ENSP00000325018:H225D	H	-	1	0	ZNF569	42596727	0.000000	0.05858	0.145000	0.22337	0.993000	0.82548	-0.281000	0.08456	0.334000	0.23590	0.591000	0.81541	CAC		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
EML2	24139	broad.mit.edu	37	19	46116829	46116829	+	Silent	SNP	G	G	A	rs375442814		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:46116829G>A	ENST00000245925.3	-	18	1844	c.1794C>T	c.(1792-1794)caC>caT	p.H598H	EML2_ENST00000536630.1_Silent_p.H745H|EML2_ENST00000589876.1_Silent_p.H598H|EML2_ENST00000587152.1_Silent_p.H799H	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	598	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCTAAACAGGTGAACTTTGC	0.582																																						uc002pcn.2																			0				large_intestine(1)|ovary(1)	2						c.(1792-1794)CAC>CAT		echinoderm microtubule associated protein like							133.0	113.0	120.0					19																	46116829		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46116829G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1794C>T	19.37:g.46116829G>A						EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.H482H|EML2_uc010xxl.1_Silent_p.H745H|EML2_uc010xxm.1_Silent_p.H799H	p.H598H	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	18	1829	-		Ovarian(192;0.179)|all_neural(266;0.224)	598			WD 10.		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.1794C>T	CCDS12670.1																																																																																				0.582	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
PLB1	151056	broad.mit.edu	37	2	28741363	28741363	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr2:28741363C>A	ENST00000327757.5	+	3	192	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PLB1_ENST00000422425.2_Missense_Mutation_p.P50T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	50	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCATGCAACCCAAATAAATT	0.428																																						uc002rmb.1																			0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(148-150)CCA>ACA		phospholipase B1 precursor							152.0	141.0	145.0					2																	28741363		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28741363C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.148C>A	2.37:g.28741363C>A	ENSP00000330442:p.Pro50Thr					PLB1_uc010ezj.1_Missense_Mutation_p.P50T	p.P50T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			3	148	+	Acute lymphoblastic leukemia(172;0.155)		50			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.148C>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	2.290	-0.362647	0.05103	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.13196	2.71;2.61	5.68	1.75	0.24633	.	0.427030	0.22551	N	0.058593	T	0.11110	0.0271	M	0.61703	1.905	0.09310	N	0.999999	B;B	0.24823	0.112;0.017	B;B	0.24394	0.053;0.013	T	0.37820	-0.9689	10	0.11794	T	0.64	-1.3331	4.311	0.10971	0.2809:0.507:0.1359:0.0762	.	50;50	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	T	50	ENSP00000330442:P50T;ENSP00000416440:P50T	ENSP00000330442:P50T	P	+	1	0	PLB1	28594867	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	-0.316000	0.08071	0.102000	0.17638	0.655000	0.94253	CCA		0.428	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
HCK	3055	broad.mit.edu	37	20	30681787	30681787	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:30681787T>C	ENST00000520553.1	+	11	1397	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	HCK_ENST00000375852.2_Missense_Mutation_p.V405A|HCK_ENST00000375862.2_Missense_Mutation_p.V404A|HCK_ENST00000538448.1_Missense_Mutation_p.V384A|HCK_ENST00000534862.1_Missense_Mutation_p.V385A|HCK_ENST00000518730.1_Missense_Mutation_p.V383A	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTGGCCCGGGTCATTGAGGAC	0.552																																						uc002wxh.2																			0		p.P405S(1)		lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1213-1215)GTC>GCC		hemopoietic cell kinase isoform p61HCK							173.0	137.0	149.0					20																	30681787		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30681787T>C	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1151T>C	20.37:g.30681787T>C	ENSP00000429848:p.Val384Ala					HCK_uc010gdy.2_Missense_Mutation_p.V384A|HCK_uc002wxi.2_Missense_Mutation_p.V383A	p.V405A	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		11	1385	+			405			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1214T>C	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959935	0.74016	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	4.73	4.73	0.59995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.341443	0.26096	N	0.026375	T	0.77671	0.4165	N	0.21142	0.635	0.29584	N	0.848971	B;B	0.25206	0.099;0.12	B;B	0.36845	0.15;0.234	T	0.76911	-0.2784	10	0.87932	D	0	.	13.8616	0.63564	0.0:0.0:0.0:1.0	.	383;405	P08631-3;P08631	.;HCK_HUMAN	A	385;384;404;384;383;405	ENSP00000444986:V385A;ENSP00000441169:V384A;ENSP00000365022:V404A;ENSP00000429848:V384A;ENSP00000427757:V383A;ENSP00000365012:V405A	ENSP00000365012:V405A	V	+	2	0	HCK	30145448	0.999000	0.42202	0.911000	0.35937	0.877000	0.50540	7.733000	0.84916	2.127000	0.65507	0.443000	0.29094	GTC		0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
MROH8	140699	broad.mit.edu	37	20	35752057	35752057	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:35752057C>T	ENST00000400441.3	-	15	1930	c.1931G>A	c.(1930-1932)gGc>gAc	p.G644D	MROH8_ENST00000441008.2_Missense_Mutation_p.G630D|MROH8_ENST00000217333.8_Missense_Mutation_p.G473D			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	55																	TGTGTACAGGCCACTTGGGAT	0.488																																						uc010zvu.1																			0					0						c.(1960-1962)GGC>GAC		hypothetical protein LOC140699 isoform 1							135.0	133.0	133.0					20																	35752057		2062	4192	6254	SO:0001583	missense	140699							g.chr20:35752057C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1931G>A	20.37:g.35752057C>T	ENSP00000383291:p.Gly644Asp					C20orf132_uc002xgk.2_Missense_Mutation_p.G276D	p.G654D	NM_152503	NP_689716	Q9H579	CT132_HUMAN			17	2052	-		Myeloproliferative disorder(115;0.00878)	55					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1961G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	6.207|6.207|6.207	0.406279|0.406279|0.406279	0.11754|0.11754|0.11754	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	.|T;T;T|.	.|0.03413|.	.|4.16;4.43;3.94|.	5.4|5.4|5.4	2.41|2.41|2.41	0.29592|0.29592|0.29592	.|.|.	.|0.517985|.	.|0.19275|.	.|N|.	.|0.118320|.	T|T|.	0.39708|0.39708|.	0.1088|0.1088|.	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.18873|0.18873|0.18873	N|N|N	0.999989|0.999989|0.999989	.|B;B|.	.|0.34372|.	.|0.451;0.356|.	.|B;B|.	.|0.34346|.	.|0.124;0.18|.	T|T|.	0.25117|0.25117|.	-1.0141|-1.0141|.	5|10|.	.|0.14656|.	.|T|.	.|0.56|.	-5.8295|-5.8295|-5.8295	6.5688|6.5688|6.5688	0.22527|0.22527|0.22527	0.0:0.7079:0.0:0.2921|0.0:0.7079:0.0:0.2921|0.0:0.7079:0.0:0.2921	.|.|.	.|644;478|.	.|E7ETR9;Q9H579-2|.	.|.;.|.	T|D|X	671|630;644;473|271	.|ENSP00000392144:G630D;ENSP00000383291:G644D;ENSP00000217333:G473D|.	.|ENSP00000217333:G473D|.	A|G|W	-|-|-	1|2|3	0|0|0	C20orf132|C20orf132|C20orf132	35185471|35185471|35185471	0.032000|0.032000|0.032000	0.19561|0.19561|0.19561	0.936000|0.936000|0.936000	0.37596|0.37596|0.37596	0.062000|0.062000|0.062000	0.15995|0.15995|0.15995	0.002000|0.002000|0.002000	0.13061|0.13061|0.13061	0.653000|0.653000|0.653000	0.30826|0.30826|0.30826	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GCC|GGC|TGG		0.488	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
HNF4A	3172	broad.mit.edu	37	20	43042366	43042366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:43042366C>T	ENST00000316099.4	+	4	507	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HNF4A_ENST00000415691.2_Nonsense_Mutation_p.R140*|HNF4A_ENST00000457232.1_Nonsense_Mutation_p.R118*|HNF4A_ENST00000609795.1_Nonsense_Mutation_p.R118*|HNF4A_ENST00000316673.4_Nonsense_Mutation_p.R118*|HNF4A_ENST00000443598.2_Nonsense_Mutation_p.R140*	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	140					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCAGCACTCGAAGGTCAAG	0.632																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(418-420)CGA>TGA		hepatocyte nuclear factor 4 alpha isoform b							83.0	63.0	70.0					20																	43042366		2203	4300	6503	SO:0001587	stop_gained	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43042366C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.418C>T	20.37:g.43042366C>T	ENSP00000312987:p.Arg140*					HNF4A_uc002xlt.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.2_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.2_Nonsense_Mutation_p.R140*|HNF4A_uc002xlz.2_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.2_Nonsense_Mutation_p.R133*	p.R140*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	507	+		Myeloproliferative disorder(115;0.0122)	140					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Nonsense_Mutation	SNP	ENST00000316099.4	37	c.418C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476317	0.96291	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	.	.	.	5.16	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9454	0.58369	0.2947:0.7053:0.0:0.0	.	.	.	.	X	118;118;140;140;170;140	.	ENSP00000312987:R140X	R	+	1	2	HNF4A	42475780	0.982000	0.34865	0.432000	0.26747	0.757000	0.42996	2.488000	0.45276	1.154000	0.42482	-0.270000	0.10280	CGA		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547																																						uc003akh.2																			0				ovary(2)	2						c.(607-609)CGC>CAC		LIM domain kinase 2 isoform 2a							150.0	142.0	145.0					22																	31658176		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31658176G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.608G>A	22.37:g.31658176G>A	ENSP00000332687:p.Arg203His					LIMK2_uc003akg.2_Missense_Mutation_p.R120H|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.R182H|LIMK2_uc003akk.2_Missense_Mutation_p.R182H|LIMK2_uc011aln.1_Missense_Mutation_p.R120H	p.R203H	NM_005569	NP_005560	P53671	LIMK2_HUMAN			6	753	+			203			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.608G>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449939	0.84101	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.49778	1.585	0.80722	D	1	P;D;P;D	0.71674	0.844;0.96;0.871;0.998	B;P;P;P	0.61328	0.407;0.716;0.542;0.887	T	0.46541	-0.9184	10	0.72032	D	0.01	-19.1698	18.4111	0.90550	0.0:0.0:1.0:0.0	.	235;182;203;125	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	H	125;203;235;182;182	ENSP00000384602:R125H;ENSP00000332687:R203H;ENSP00000330470:R182H;ENSP00000339916:R182H	ENSP00000332687:R203H	R	+	2	0	LIMK2	29988176	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.632000	0.83247	2.588000	0.87417	0.655000	0.94253	CGC		0.547	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
STK32B	55351	broad.mit.edu	37	4	5461833	5461833	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:5461833C>T	ENST00000282908.5	+	9	1209	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	STK32B_ENST00000510398.1_Silent_p.L216L|STK32B_ENST00000512636.1_Silent_p.L186L|STK32B_ENST00000508728.1_3'UTR|RN7SKP275_ENST00000364626.1_RNA	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTGCAGCTCCTGACCAAGGA	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gih.1																			0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(787-789)CTG>TTG		serine/threonine kinase 32B							90.0	80.0	84.0					4																	5461833		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5461833C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.787C>T	4.37:g.5461833C>T			OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	626	STK32B_uc010ida.1_Silent_p.L216L	p.L263L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			9	851	+			263			Protein kinase.			Silent	SNP	ENST00000282908.5	37	c.787C>T	CCDS3380.1																																																																																				0.552	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
ADH1B	125	broad.mit.edu	37	4	100232699	100232699	+	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:100232699A>C	ENST00000305046.8	-	7	1010	c.943T>G	c.(943-945)Tgg>Ggg	p.W315G	ADH1B_ENST00000394887.3_Missense_Mutation_p.W275G			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	315					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCCCCCTTCCAGGTGCGTCCA	0.433																																						uc003hus.3																			0				ovary(1)|breast(1)	2						c.(943-945)TGG>GGG		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						166.0	165.0	165.0					4																	100232699		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232699A>C	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.943T>G	4.37:g.100232699A>C	ENSP00000306606:p.Trp315Gly					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.W275G|ADH1B_uc011ceh.1_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	p.W315G	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	1027	-			315					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.943T>G	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306095	0.60305	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.20200	2.09;2.09	3.66	3.66	0.41972	Alcohol dehydrogenase, C-terminal (1);	0.062072	0.64402	D	0.000001	T	0.53642	0.1809	M	0.92317	3.295	0.80722	D	1	P;P;D	0.76494	0.938;0.905;0.999	D;D;D	0.91635	0.953;0.961;0.999	T	0.65471	-0.6160	10	0.87932	D	0	-12.8538	12.2666	0.54681	1.0:0.0:0.0:0.0	.	302;275;315	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	G	315;275;302	ENSP00000306606:W315G;ENSP00000378351:W275G	ENSP00000306606:W315G	W	-	1	0	ADH1B	100451722	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.964000	0.63701	1.408000	0.46895	0.459000	0.35465	TGG		0.433	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
TACR3	6870	broad.mit.edu	37	4	104640358	104640358	+	Missense_Mutation	SNP	G	G	A	rs574875874		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:104640358G>A	ENST00000304883.2	-	1	615	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	159					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGAAGCGGCAGTAGTTG	0.542																																						uc003hxe.1																			0				ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(475-477)CGC>TGC		tachykinin receptor 3							81.0	75.0	77.0					4																	104640358		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640358G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.475C>T	4.37:g.104640358G>A	ENSP00000303325:p.Arg159Cys						p.R159C	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	618	-		Hepatocellular(203;0.217)	159			Extracellular (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.475C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034510	0.75617	.	.	ENSG00000169836	ENST00000304883	T	0.19669	2.13	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.380247	0.28343	N	0.015696	T	0.47135	0.1429	M	0.80332	2.49	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.49790	-0.8902	10	0.72032	D	0.01	.	12.9101	0.58175	0.0:0.0:0.8379:0.1621	.	159	P29371	NK3R_HUMAN	C	159	ENSP00000303325:R159C	ENSP00000303325:R159C	R	-	1	0	TACR3	104859807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.531000	0.60602	2.446000	0.82766	0.591000	0.81541	CGC		0.542	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
VEGFC	7424	broad.mit.edu	37	4	177650867	177650867	+	Missense_Mutation	SNP	G	G	A	rs566826535	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:177650867G>A	ENST00000280193.2	-	2	596	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	61					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GACACAGACCGTAACTGCTCC	0.408													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.0					uc003ius.1																			0				lung(5)	5						c.(181-183)CGG>TGG		vascular endothelial growth factor C							86.0	79.0	81.0					4																	177650867		1913	4132	6045	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650867G>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.181C>T	4.37:g.177650867G>A	ENSP00000280193:p.Arg61Trp						p.R61W	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	611	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	61					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.181C>T	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118185	0.77323	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80405	-0.1396	9	0.87932	D	0	-14.0043	13.4772	0.61316	0.0:0.0:0.8434:0.1566	.	61	P49767	VEGFC_HUMAN	W	61	.	ENSP00000280193:R61W	R	-	1	2	VEGFC	177887861	1.000000	0.71417	0.794000	0.32065	0.914000	0.54420	5.840000	0.69402	2.466000	0.83321	0.484000	0.47621	CGG		0.408	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
PLEKHG4B	153478	broad.mit.edu	37	5	140705	140705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:140705C>T	ENST00000283426.6	+	1	333	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	95							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGGGCCCAGGCTGCAGC	0.662																																						uc003jak.2																			0				skin(2)	2						c.(283-285)CAG>TAG		pleckstrin homology domain containing, family G							14.0	19.0	17.0					5																	140705		2176	4274	6450	SO:0001587	stop_gained	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140705C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.283C>T	5.37:g.140705C>T	ENSP00000283426:p.Gln95*						p.Q95*	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	333	+			95						Nonsense_Mutation	SNP	ENST00000283426.6	37	c.283C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311483	0.40895	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	2.27	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	6.6109	0.22751	0.0:0.3243:0.6757:0.0	.	.	.	.	X	95;9	.	ENSP00000283426:Q95X	Q	+	1	0	PLEKHG4B	193705	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.649000	0.05384	-0.120000	0.11809	0.298000	0.19748	CAG		0.662	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
SLC6A19	340024	broad.mit.edu	37	5	1216997	1216997	+	Silent	SNP	C	C	T	rs564673494		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:1216997C>T	ENST00000304460.10	+	8	1166	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	370					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCAACGCCTCCGACCCCGCGG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21082	0.0		0.0	False		,,,				2504	0.0					uc003jbw.3																			0					0						c.(1108-1110)TCC>TCT		solute carrier family 6, member 19							166.0	154.0	158.0					5																	1216997		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216997C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1110C>T	5.37:g.1216997C>T							p.S370S	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1166	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		370			Extracellular (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.1110C>T	CCDS34130.1																																																																																				0.627	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120	
SLIT3	6586	broad.mit.edu	37	5	168310294	168310294	+	Missense_Mutation	SNP	C	C	T	rs138901310		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:168310294C>T	ENST00000519560.1	-	5	880	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SLIT3_ENST00000404867.3_Missense_Mutation_p.R154H|SLIT3_ENST00000332966.8_Missense_Mutation_p.R154H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	154					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGATGCCGCGGAACGCCTT	0.502																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			0				ovary(3)|skin(1)	4						c.(460-462)CGC>CAC		slit homolog 3 precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	130.0	107.0	114.0		461	5.0	0.9	5	dbSNP_134	114	0,8600		0,0,4300	no	missense	SLIT3	NM_003062.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	154/1524	168310294	1,13005	2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310294C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.461G>A	5.37:g.168310294C>T	ENSP00000430333:p.Arg154His					SLIT3_uc010jjg.2_Missense_Mutation_p.R154H|SLIT3_uc010jji.2_Missense_Mutation_p.R154H	p.R154H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	154			LRR 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.461G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971357	0.74246	2.27E-4	0.0	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.57436	0.4;0.4;0.4	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	N	0.13168	0.305	0.58432	D	0.999992	D;D	0.89917	0.965;1.0	P;D	0.97110	0.524;1.0	T	0.67608	-0.5627	10	0.87932	D	0	.	18.2459	0.89985	0.0:1.0:0.0:0.0	.	154;154	O75094-2;O75094	.;SLIT3_HUMAN	H	154	ENSP00000430333:R154H;ENSP00000332164:R154H;ENSP00000384890:R154H	ENSP00000332164:R154H	R	-	2	0	SLIT3	168242872	1.000000	0.71417	0.918000	0.36340	0.575000	0.36095	6.278000	0.72614	2.288000	0.76882	0.655000	0.94253	CGC		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						uc003nsh.2																			0				ovary(1)|skin(1)	2						c.(397-399)AGC>GGC		mucin 21 precursor							165.0	154.0	158.0					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_uc003nsi.1_RNA	p.S133G	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN			2	648	+			133			Ser-rich.|7.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
TFAP2D	83741	broad.mit.edu	37	6	50696983	50696983	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:50696983C>T	ENST00000008391.3	+	5	1069	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGCAGGAAGACGGAAAGCAGC	0.423																																						uc003paf.2																			0				ovary(6)|breast(1)	7						c.(841-843)CGG>TGG		transcription factor AP-2 beta-like 1							164.0	145.0	151.0					6																	50696983		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696983C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.841C>T	6.37:g.50696983C>T	ENSP00000008391:p.Arg281Trp					TFAP2D_uc011dwt.1_RNA	p.R281W	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			5	1353	+	Lung NSC(77;0.0334)		281			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.841C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214894	0.79352	.	.	ENSG00000008197	ENST00000008391	D	0.98105	-4.72	5.87	4.93	0.64822	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99010	1.0814	10	0.87932	D	0	-24.8685	11.5825	0.50900	0.3834:0.6166:0.0:0.0	.	281	Q7Z6R9	AP2D_HUMAN	W	281	ENSP00000008391:R281W	ENSP00000008391:R281W	R	+	1	2	TFAP2D	50804942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.557000	0.60782	2.785000	0.95823	0.591000	0.81541	CGG		0.423	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
EPB41L2	2037	broad.mit.edu	37	6	131277174	131277174	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:131277174C>G	ENST00000337057.3	-	2	633	c.452G>C	c.(451-453)aGc>aCc	p.S151T	EPB41L2_ENST00000392427.3_Missense_Mutation_p.S151T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S151T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S151T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S151T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S151T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	151					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCCTTGCTCACTGAGGG	0.408																																						uc003qch.2																			0				central_nervous_system(1)|skin(1)	2						c.(451-453)AGC>ACC		erythrocyte membrane protein band 4.1-like 2							317.0	328.0	324.0					6																	131277174		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277174C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.452G>C	6.37:g.131277174C>G	ENSP00000338481:p.Ser151Thr					EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc011eby.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfl.1_Missense_Mutation_p.S151T	p.S151T	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	634	-	Breast(56;0.0639)		151					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.452G>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128227	0.37533	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709;ENST00000532499;ENST00000526983	D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.82893	-1.65;-1.65;-1.65;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.65;-1.66;0.68;0.66;0.38	4.8	3.92	0.45320	.	1.627450	0.03255	N	0.182417	T	0.51075	0.1653	N	0.08118	0	0.24063	N	0.996004	B;B;B;B;B	0.27498	0.18;0.18;0.18;0.094;0.18	B;B;B;B;B	0.30105	0.111;0.071;0.111;0.037;0.071	T	0.52373	-0.8584	10	0.15066	T	0.55	.	11.1578	0.48497	0.0:0.9105:0.0:0.0895	.	151;151;151;151;151	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	T	151	ENSP00000434308:S151T;ENSP00000434576:S151T;ENSP00000402041:S151T;ENSP00000338481:S151T;ENSP00000376222:S151T;ENSP00000357110:S151T;ENSP00000436348:S151T;ENSP00000432803:S151T;ENSP00000431988:S151T;ENSP00000431647:S151T;ENSP00000436641:S151T;ENSP00000436871:S151T;ENSP00000432013:S151T;ENSP00000432329:S151T	ENSP00000338481:S151T	S	-	2	0	EPB41L2	131318867	0.586000	0.26782	0.233000	0.24025	0.410000	0.31052	0.570000	0.23653	1.333000	0.45449	0.655000	0.94253	AGC		0.408	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		
C6orf118	168090	broad.mit.edu	37	6	165715366	165715366	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:165715366C>T	ENST00000230301.8	-	2	465	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	C6orf118_ENST00000543069.1_Missense_Mutation_p.V45M	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	149										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACAGCCTCCACTGGAAGGAAA	0.627																																						uc003qum.3																			0					0						c.(445-447)GTG>ATG		hypothetical protein LOC168090							59.0	69.0	65.0					6																	165715366		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715366C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.445G>A	6.37:g.165715366C>T	ENSP00000230301:p.Val149Met					C6orf118_uc011egi.1_RNA	p.V149M	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	481	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	149					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.445G>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	6.693	0.496582	0.12762	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.15603	2.63;2.41	4.36	-1.92	0.07618	.	2.421730	0.01630	N	0.023461	T	0.02888	0.0086	N	0.21448	0.665	0.09310	N	1	B	0.22003	0.063	B	0.15870	0.014	T	0.33701	-0.9858	10	0.48119	T	0.1	.	1.1376	0.01758	0.1342:0.2433:0.3016:0.3208	.	149	Q5T5N4	CF118_HUMAN	M	149;45	ENSP00000230301:V149M;ENSP00000439288:V45M	ENSP00000230301:V149M	V	-	1	0	C6orf118	165635356	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.366000	0.02585	-0.791000	0.04486	-0.982000	0.02568	GTG		0.627	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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.A289V(20)|p.A289D(3)		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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		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		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	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.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	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.chr7:55221822C>T		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.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	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)		7	1112	+	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)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55225428	55225428	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55225428G>T	ENST00000275493.2	+	11	1457	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	EGFR_ENST00000442591.1_Missense_Mutation_p.R427L|EGFR_ENST00000342916.3_Missense_Mutation_p.R427L|EGFR_ENST00000455089.1_Missense_Mutation_p.R382L|EGFR_ENST00000454757.2_Missense_Mutation_p.R374L|EGFR_ENST00000344576.2_Missense_Mutation_p.R427L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	427					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)			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)	GAAATCATACGCGGCAGGACC	0.453		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		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		0				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.(1279-1281)CGC>CTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	85.0	89.0					7																	55225428		2203	4300	6503	SO:0001583	missense	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.chr7:55225428G>T		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.1280G>T	7.37:g.55225428G>T	ENSP00000275493:p.Arg427Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.R427L|EGFR_uc003tqj.2_Missense_Mutation_p.R427L|EGFR_uc010kzg.1_Missense_Mutation_p.R382L|EGFR_uc011kco.1_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	p.R427L	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)		11	1526	+	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)		427			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1280G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854969	0.91355	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.93	5.93	0.95920	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.943;0.998;1.0;1.0	D	0.93078	0.6489	10	0.46703	T	0.11	.	18.9075	0.92469	0.0:0.0:1.0:0.0	.	382;427;427;427	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	382;427;297;427;427;427;374;221	ENSP00000415559:R382L;ENSP00000342376:R427L;ENSP00000345973:R427L;ENSP00000275493:R427L;ENSP00000410031:R427L;ENSP00000395243:R374L	ENSP00000275493:R427L	R	+	2	0	EGFR	55192922	1.000000	0.71417	0.927000	0.36925	0.837000	0.47467	7.562000	0.82300	2.815000	0.96918	0.561000	0.74099	CGC		0.453	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CNPY4	245812	broad.mit.edu	37	7	99717380	99717380	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:99717380C>T	ENST00000262932.3	+	1	145	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_5'Flank|TAF6_ENST00000453269.2_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'UTR|TAF6_ENST00000418432.2_5'Flank|TAF6_ENST00000344095.4_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	5						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGACCTGTGCGGTTGGGAAT	0.542																																						uc003uto.2																			0					0						c.(13-15)CGG>TGG		canopy 4 homolog precursor							222.0	200.0	207.0					7																	99717380		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99717380C>T	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.13C>T	7.37:g.99717380C>T	ENSP00000262932:p.Arg5Trp					TAF6_uc003uti.2_5'Flank|TAF6_uc003utk.2_5'Flank|TAF6_uc011kji.1_5'UTR|TAF6_uc003utj.2_5'Flank|TAF6_uc003utl.2_5'Flank|TAF6_uc003utm.2_5'Flank|TAF6_uc003utn.1_5'Flank	p.R5W	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN			1	116	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		5					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.13C>T	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147369	0.21288	.	.	ENSG00000166997	ENST00000262932	T	0.36157	1.27	4.98	4.1	0.47936	.	0.524894	0.19376	N	0.115767	T	0.19565	0.0470	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.15578	-1.0432	10	0.59425	D	0.04	-5.3842	9.6597	0.39947	0.0:0.905:0.0:0.095	.	5	Q8N129	CNPY4_HUMAN	W	5	ENSP00000262932:R5W	ENSP00000262932:R5W	R	+	1	2	CNPY4	99555316	0.799000	0.28903	0.207000	0.23584	0.002000	0.02628	0.698000	0.25571	1.465000	0.48006	-0.448000	0.05591	CGG		0.542	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755	
Unknown	0	broad.mit.edu	37	7	101989079	101989079	+	IGR	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:101989079G>T								Y_RNA (11697 upstream) : PRKRIP1 (15264 downstream)																							GTTTTGTTTGGAGTCCTCGTC	0.557																																						uc011kkp.1																			0					0						c.(793-795)TCC>TAC		speedy homolog E6							56.0	69.0	67.0					7																	101989079		127	614	741	SO:0001628	intergenic_variant	729597							g.chr7:101989079G>T																													7.37:g.101989079G>T						SPDYE6_uc003uzb.2_Missense_Mutation_p.S121Y	p.S265Y	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN			6	1215	-			265						Missense_Mutation	SNP		37	c.794C>A																																																																																				0	0.557								
SPAM1	6677	broad.mit.edu	37	7	123594466	123594466	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:123594466G>A	ENST00000439500.1	+	4	1455	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	SPAM1_ENST00000223028.7_Missense_Mutation_p.R281Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R281Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R281Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R281Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	281					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGCGCAATCGAGTTCGGGAA	0.428																																						uc003vld.2																			0				ovary(3)|kidney(1)	4						c.(841-843)CGA>CAA		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						90.0	84.0	86.0					7																	123594466		2203	4299	6502	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594466G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.842G>A	7.37:g.123594466G>A	ENSP00000402123:p.Arg281Gln					SPAM1_uc003vle.2_Missense_Mutation_p.R281Q|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.R281Q|SPAM1_uc010lku.2_Missense_Mutation_p.R281Q	p.R281Q	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1244	+			281					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.842G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280394	0.95489	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	6.17	5.29	0.74685	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.118471	0.64402	D	0.000016	T	0.71213	0.3313	M	0.91663	3.23	0.42961	D	0.994407	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.79600	-0.1736	9	.	.	.	-44.4377	16.2224	0.82265	0.0:0.0:0.8664:0.1336	.	281;281	Q8TC30;P38567	.;HYALP_HUMAN	Q	281	ENSP00000386028:R281Q;ENSP00000417934:R281Q;ENSP00000345849:R281Q;ENSP00000402123:R281Q;ENSP00000223028:R281Q	.	R	+	2	0	SPAM1	123381702	1.000000	0.71417	0.341000	0.25589	0.322000	0.28314	5.635000	0.67841	1.618000	0.50286	0.655000	0.94253	CGA		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
FLNC	2318	broad.mit.edu	37	7	128491526	128491526	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:128491526G>A	ENST00000325888.8	+	35	5947	c.5686G>A	c.(5686-5688)Gtg>Atg	p.V1896M	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.V1863M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1896					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCACTGGCCGTGGAGGGCCC	0.622																																						uc003vnz.3																			0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5686-5688)GTG>ATG		gamma filamin isoform a							71.0	85.0	80.0					7																	128491526		2175	4284	6459	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491526G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5686G>A	7.37:g.128491526G>A	ENSP00000327145:p.Val1896Met					FLNC_uc003voa.3_Missense_Mutation_p.V1863M	p.V1896M	NM_001458	NP_001449	Q14315	FLNC_HUMAN			35	5895	+			1896			Filamin 17.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5686G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335208	0.81801	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.94723	-3.5;-3.5	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	M	0.83852	2.665	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.96869	0.9638	10	0.52906	T	0.07	.	13.3967	0.60858	0.0813:0.0:0.9187:0.0	.	1863;1896	Q14315-2;Q14315	.;FLNC_HUMAN	M	1896;1863	ENSP00000327145:V1896M;ENSP00000344002:V1863M	ENSP00000327145:V1896M	V	+	1	0	FLNC	128278762	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	3.384000	0.52478	2.652000	0.90054	0.655000	0.94253	GTG		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
SLC13A4	26266	broad.mit.edu	37	7	135376342	135376342	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:135376342G>A	ENST00000354042.4	-	12	1961	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	424					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAATGAGGAAGAGGAGGAAGC	0.478																																						uc003vta.2																			0					0						c.(1270-1272)CTC>CTT		solute carrier family 13 (sodium/sulfate							89.0	81.0	83.0					7																	135376342		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135376342G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1272C>T	7.37:g.135376342G>A						SLC13A4_uc003vtb.2_Silent_p.L425L|PL-5283_uc003vsz.3_RNA	p.L424L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			12	1961	-			424			Helical; (Potential).		A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.1272C>T	CCDS5840.1																																																																																				0.478	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
CLU	1191	broad.mit.edu	37	8	27456003	27456003	+	Silent	SNP	C	C	T	rs144959547	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:27456003C>T	ENST00000316403.10	-	8	1719	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	CLU_ENST00000546343.1_Silent_p.A449A|CLU_ENST00000523500.1_Silent_p.A438A|CLU_ENST00000405140.3_Silent_p.A438A|CLU_ENST00000560366.1_Silent_p.A490A			P10909	CLUS_HUMAN	clusterin	438					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATTCCTGCAGCGCTTTCTCCG	0.542																																						uc003xfw.1																			0				ovary(2)	2						c.(1312-1314)GCG>GCA		clusterin isoform 2							67.0	70.0	69.0					8																	27456003		2203	4300	6503	SO:0001819	synonymous_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27456003C>T	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.1314G>A	8.37:g.27456003C>T						CLU_uc010lux.1_Silent_p.A303A|CLU_uc003xfx.1_Silent_p.A438A|CLU_uc003xfy.1_Silent_p.A449A|CLU_uc003xfz.1_Silent_p.A490A	p.A438A	NM_203339	NP_976084	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	7	1372	-		Ovarian(32;2.61e-05)	438					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	c.1314G>A	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	2.147	-0.395414	0.04899	.	.	ENSG00000120885	ENST00000521770	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-26.6663	1.3283	0.02130	0.1394:0.3399:0.2301:0.2906	.	.	.	.	H	129	.	.	R	-	2	0	CLU	27511920	0.000000	0.05858	0.027000	0.17364	0.128000	0.20619	-4.567000	0.00214	-2.157000	0.00789	-0.140000	0.14226	CGC		0.542	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831	
ZBTB10	65986	broad.mit.edu	37	8	81431744	81431744	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:81431744G>T	ENST00000430430.1	+	7	3376	c.2597G>T	c.(2596-2598)tGt>tTt	p.C866F	ZBTB10_ENST00000426744.2_Missense_Mutation_p.C842F|ZBTB10_ENST00000379091.4_Missense_Mutation_p.C574F|ZBTB10_ENST00000455036.3_Missense_Mutation_p.C866F	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	866					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GGAGAAGTTTGTATGTCTCTA	0.408																																						uc003ybx.3																			0				lung(1)	1						c.(2596-2598)TGT>TTT		zinc finger and BTB domain containing 10 isoform							80.0	81.0	81.0					8																	81431744		1943	4123	6066	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81431744G>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2597G>T	8.37:g.81431744G>T	ENSP00000387462:p.Cys866Phe					ZBTB10_uc003ybv.3_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.3_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.2_Missense_Mutation_p.C864F	p.C866F	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		6	3195	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		866					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.2597G>T	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455062	0.26161	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T	0.11821	2.74;2.84	5.54	4.64	0.57946	.	0.206931	0.44285	D	0.000477	T	0.09024	0.0223	N	0.24115	0.695	0.43879	D	0.996492	B;B;B;P	0.35575	0.001;0.001;0.001;0.51	B;B;B;B	0.35240	0.001;0.001;0.003;0.198	T	0.03555	-1.1025	10	0.02654	T	1	.	15.2947	0.73894	0.0:0.0:0.8546:0.1454	.	720;866;842;574	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	F	574;866;842;866;692	ENSP00000368384:C574F;ENSP00000387462:C866F	ENSP00000368384:C574F	C	+	2	0	ZBTB10	81594299	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.007000	0.70731	1.278000	0.44430	0.591000	0.81541	TGT		0.408	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929	
TAF1L	138474	broad.mit.edu	37	9	32630679	32630679	+	Silent	SNP	A	A	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:32630679A>T	ENST00000242310.4	-	1	4988	c.4899T>A	c.(4897-4899)ctT>ctA	p.L1633L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1633					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCCTTCTCAAGTTGAGTCA	0.448																																						uc003zrg.1																			0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4897-4899)CTT>CTA		TBP-associated factor RNA polymerase 1-like							139.0	135.0	137.0					9																	32630679		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630679A>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4899T>A	9.37:g.32630679A>T						uc003zrh.1_5'Flank	p.L1633L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4989	-			1633					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4899T>A	CCDS35003.1																																																																																				0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
OR13C9	286362	broad.mit.edu	37	9	107379535	107379535	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:107379535G>A	ENST00000259362.1	-	1	950	c.951C>T	c.(949-951)agC>agT	p.S317S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCATTCACTTGCTAAAGAACC	0.353																																						uc011lvr.1																			0					0						c.(949-951)AGC>AGT		olfactory receptor, family 13, subfamily C,							169.0	166.0	167.0					9																	107379535		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379535G>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.951C>T	9.37:g.107379535G>A							p.S317S	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	951	-			317			Cytoplasmic (Potential).		Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.951C>T	CCDS35093.1																																																																																				0.353	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1		
SVEP1	79987	broad.mit.edu	37	9	113173765	113173765	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:113173765G>A	ENST00000401783.2	-	37	6562	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2053S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P2S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2076	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAACGGGGCATGTCTTGA	0.483																																						uc010mtz.2																			0				ovary(7)	7						c.(6226-6228)CCC>TCC		polydom							46.0	46.0	46.0					9																	113173765		1888	4101	5989	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173765G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6226C>T	9.37:g.113173765G>A	ENSP00000384917:p.Pro2076Ser					SVEP1_uc010mty.2_Missense_Mutation_p.P2S	p.P2076S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	6563	-			2076			Sushi 11.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6226C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921182	0.92249	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.76968	-1.06;-1.06;-0.87	5.98	5.98	0.97165	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89562	0.3807	10	0.87932	D	0	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	2076	Q4LDE5	SVEP1_HUMAN	S	2076;2053;2	ENSP00000384917:P2076S;ENSP00000363593:P2053S;ENSP00000297826:P2S	ENSP00000297826:P2S	P	-	1	0	SVEP1	112213586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.622000	0.98378	2.847000	0.97988	0.591000	0.81541	CCC		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ADAMTS13	11093	broad.mit.edu	37	9	136302931	136302931	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:136302931G>A	ENST00000371929.3	+	13	1942	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D500N|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.D172N|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D469N	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	500	Cysteine-rich.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGCGTGGAGACAGCTTCCT	0.627																																						uc004cdv.3																			0				central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(1498-1500)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							94.0	91.0	92.0					9																	136302931		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136302931G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1498G>A	9.37:g.136302931G>A	ENSP00000360997:p.Asp500Asn					ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.D170N|ADAMTS13_uc004cds.1_Intron|ADAMTS13_uc004cdr.1_RNA	p.D500N	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	13	1942	+			500			Cell attachment site (Potential).		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1498G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488930	0.44249	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.42	4.51	0.55191	.	.	.	.	.	T	0.62829	0.2460	L	0.58354	1.805	0.27308	N	0.957382	P;B;B	0.35575	0.51;0.321;0.321	B;B;B	0.37780	0.174;0.2;0.258	T	0.57464	-0.7807	9	0.44086	T	0.13	.	8.6998	0.34318	0.0792:0.1534:0.7674:0.0	.	500;469;500	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	N	500;500;469;172	ENSP00000360997:D500N;ENSP00000347927:D500N;ENSP00000348997:D469N;ENSP00000444504:D172N	ENSP00000347927:D500N	D	+	1	0	ADAMTS13	135292752	0.281000	0.24258	0.991000	0.47740	0.735000	0.41995	1.599000	0.36751	1.239000	0.43787	0.655000	0.94253	GAC		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025	
ASMT	438	broad.mit.edu	37	X	1746635	1746635	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:1746635C>T	ENST00000381229.4	+	4	450	c.414C>T	c.(412-414)ccC>ccT	p.P138P	ASMT_ENST00000381233.3_Silent_p.P138P|ASMT_ENST00000381241.3_Silent_p.P138P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	138					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	TTGGCGTTCCCGCTGAAGAGC	0.388																																						uc004cqd.2																			0				skin(1)	1						c.(412-414)CCC>CCT		acetylserotonin O-methyltransferase			,,	0,4406		0,0,2203	260.0	247.0	251.0		414,414,414	-3.0	0.0	X		251	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	,,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,,	138/374,138/299,138/374	1746635	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1746635C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.414C>T	X.37:g.1746635C>T						ASMT_uc010ncy.2_Silent_p.P138P|ASMT_uc004cqe.2_Silent_p.P138P	p.P138P	NM_004043	NP_004034	P46597	HIOM_HUMAN			5	559	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	138					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.414C>T																																																																																					0.388	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043	
FIGF	2277	broad.mit.edu	37	X	15381369	15381369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:15381369G>A	ENST00000297904.3	-	2	592	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	55					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGTAATTCGAAGTAGTTCC	0.453																																						uc004cwt.1																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(163-165)CGA>TGA		vascular endothelial growth factor D							111.0	92.0	99.0					X																	15381369		2203	4300	6503	SO:0001587	stop_gained	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15381369G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.163C>T	X.37:g.15381369G>A	ENSP00000297904:p.Arg55*						p.R55*	NM_004469	NP_004460	O43915	VEGFD_HUMAN			2	672	-	Hepatocellular(33;0.183)		55					B2R7Z3	Nonsense_Mutation	SNP	ENST00000297904.3	37	c.163C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203665	0.95033	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.86	2.84	0.33178	.	0.701198	0.13784	N	0.363010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7022	11.4089	0.49915	0.0:0.1108:0.6305:0.2586	.	.	.	.	X	55	.	ENSP00000297904:R55X	R	-	1	2	FIGF	15291290	0.725000	0.28048	0.020000	0.16555	0.149000	0.21700	2.749000	0.47492	0.618000	0.30179	-0.975000	0.02590	CGA		0.453	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
KIAA1210	57481	broad.mit.edu	37	X	118221675	118221675	+	Missense_Mutation	SNP	C	C	T	rs188369194		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:118221675C>T	ENST00000402510.2	-	11	3517	c.3518G>A	c.(3517-3519)cGa>cAa	p.R1173Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1173										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCTCTAGTCGTGAGGTCAT	0.468													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14334	0.0		0.0	False		,,,				2504	0.0					uc004era.3																			0				ovary(4)|skin(1)	5						c.(3517-3519)CGA>CAA		hypothetical protein LOC57481							59.0	53.0	55.0					X																	118221675		1859	4092	5951	SO:0001583	missense	57481							g.chrX:118221675C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3518G>A	X.37:g.118221675C>T	ENSP00000384670:p.Arg1173Gln						p.R1173Q	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	3518	-			1173					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3518G>A	CCDS48156.1	2	0.0012055455093429777	1	0.0020408163265306124	0	0.0	0	0.0	0	0.0	C	7.365	0.625566	0.14257	.	.	ENSG00000250423	ENST00000402510	T	0.10960	2.82	4.43	-4.09	0.03951	.	.	.	.	.	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	P	0.46656	0.882	B	0.36092	0.217	T	0.32348	-0.9910	9	0.13853	T	0.58	.	0.9695	0.01413	0.2526:0.1978:0.1228:0.4268	.	1173	Q9ULL0	K1210_HUMAN	Q	1173	ENSP00000384670:R1173Q	ENSP00000384670:R1173Q	R	-	2	0	RP13-347D8.6	118105703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.856000	0.00177	-1.328000	0.02261	-1.929000	0.00512	CGA		0.468	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
FLNA	2316	broad.mit.edu	37	X	153588591	153588591	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:153588591G>A	ENST00000369850.3	-	22	3808	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000422373.1_Missense_Mutation_p.A1191V|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fkk.2																			0				breast(6)	6						c.(3571-3573)GCG>GTG		filamin A, alpha isoform 2							36.0	42.0	40.0					X																	153588591		2050	4158	6208	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588591G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3572C>T	X.37:g.153588591G>A	ENSP00000358866:p.Ala1191Val		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1191V	p.A1191V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			22	3821	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1191			Filamin 10.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3572C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702102	0.48307	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-2.94	4.92	4.92	0.64577	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.65874	0.939;0.934	D	0.97256	0.9901	10	0.87932	D	0	.	14.0254	0.64582	0.0:0.1597:0.8403:0.0	.	1191;1191	P21333-2;P21333	.;FLNA_HUMAN	V	1191;1164;1191;1191;1191	ENSP00000353467:A1191V;ENSP00000416926:A1191V;ENSP00000358866:A1191V;ENSP00000358863:A1191V	ENSP00000358863:A1191V	A	-	2	0	FLNA	153241785	1.000000	0.71417	0.076000	0.20297	0.130000	0.20726	3.423000	0.52756	2.043000	0.60533	0.525000	0.51046	GCG		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
RAB39B	116442	broad.mit.edu	37	X	154490213	154490213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:154490213C>A	ENST00000369454.3	-	2	817	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	173					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAACCAGCTCATATATGTCT	0.473																																						uc004fne.2																			0					0						c.(517-519)GAG>TAG		RAB39B, member RAS oncogene family							99.0	83.0	89.0					X																	154490213		2203	4300	6503	SO:0001587	stop_gained	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490213C>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.517G>T	X.37:g.154490213C>A	ENSP00000358466:p.Glu173*						p.E173*	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			2	796	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		173					Q5JT79|Q8NEX3	Nonsense_Mutation	SNP	ENST00000369454.3	37	c.517G>T	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	C	38	7.266866	0.98175	.	.	ENSG00000155961	ENST00000369454	.	.	.	5.17	5.17	0.71159	.	0.265325	0.36034	N	0.002823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	15.2574	0.73596	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000358466:E173X	E	-	1	0	RAB39B	154143407	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.420000	0.80191	2.280000	0.76307	0.513000	0.50165	GAG		0.473	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998	
