#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
HFM1	164045	broad.mit.edu	37	1	91843657	91843657	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:91843657C>T	ENST00000370425.3	-	11	1418	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	HFM1_ENST00000370424.3_Silent_p.Q119Q|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	440	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTTAAAGTCTGAGAAACAG	0.368																																						uc001doa.3																			0					0						c.(1318-1320)CAG>CAA		HFM1 protein							104.0	96.0	99.0					1																	91843657		1826	4085	5911	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843657C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1320G>A	1.37:g.91843657C>T						HFM1_uc010osu.1_Silent_p.Q119Q|HFM1_uc010osv.1_Silent_p.Q124Q|HFM1_uc001doc.1_Silent_p.Q440Q	p.Q440Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	11	1420	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	440			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1320G>A	CCDS30769.2																																																																																				0.368	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
LINGO4	339398	broad.mit.edu	37	1	151774511	151774511	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:151774511G>A	ENST00000368820.3	-	2	1607	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	224						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCCCCGCAGGGCCCCAGCT	0.642																																						uc001ezf.1																			0				large_intestine(1)	1						c.(670-672)CTG>TTG		leucine rich repeat and Ig domain containing 4							39.0	47.0	44.0					1																	151774511		2201	4300	6501	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774511G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.670C>T	1.37:g.151774511G>A							p.L224L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	860	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		224			Extracellular (Potential).|LRR 7.			Silent	SNP	ENST00000368820.3	37	c.670C>T	CCDS30855.1																																																																																				0.642	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387	
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						uc001ezw.3																			1	Deletion - Frameshift(1)		large_intestine(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5701-5706)CACAGCfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					uc001ezv.2_Intron	p.H1901fs	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5776_5777	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901_1902					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
UBQLN4	56893	broad.mit.edu	37	1	156011962	156011962	+	Silent	SNP	G	G	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156011962G>C	ENST00000368309.3	-	8	1424	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	444					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGAAGACTGGGAGCTGCAGGC	0.617																																						uc001fna.2																			0				pancreas(1)|skin(1)	2						c.(1330-1332)CTC>CTG		ataxin-1 ubiquitin-like interacting protein							57.0	61.0	60.0					1																	156011962		2203	4300	6503	SO:0001819	synonymous_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156011962G>C	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1332C>G	1.37:g.156011962G>C						UBQLN4_uc010pgx.1_Silent_p.L424L	p.L444L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			8	1356	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		444					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	c.1332C>G	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482564	0.26598	.	.	ENSG00000160803	ENST00000368307	T	0.50548	0.74	4.36	0.0147	0.14101	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.28125	N	0.930433	.	.	.	.	.	.	T	0.28427	-1.0044	6	0.24483	T	0.36	-21.1938	10.0802	0.42384	0.0831:0.5543:0.3626:0.0	.	.	.	.	A	97	ENSP00000357290:P97A	ENSP00000357290:P97A	P	-	1	0	UBQLN4	154278586	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	2.543000	0.45752	-0.151000	0.11176	-1.087000	0.02190	CCC		0.617	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131	
UBQLN4	56893	broad.mit.edu	37	1	156021545	156021545	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156021545C>G	ENST00000368309.3	-	2	304	c.212G>C	c.(211-213)gGa>gCa	p.G71A	UBQLN4_ENST00000472638.1_5'UTR|LAMTOR2_ENST00000368305.4_5'Flank	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	71	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GTCCTTGATTCCGTGCTGGTT	0.537																																						uc001fna.2																			0				pancreas(1)|skin(1)	2						c.(211-213)GGA>GCA		ataxin-1 ubiquitin-like interacting protein							131.0	106.0	114.0					1																	156021545		2203	4298	6501	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156021545C>G	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.212G>C	1.37:g.156021545C>G	ENSP00000357292:p.Gly71Ala					UBQLN4_uc010pgx.1_Missense_Mutation_p.G71A|ROBLD3_uc001fnb.3_5'Flank|ROBLD3_uc010pgy.1_5'Flank	p.G71A	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			2	236	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		71			Ubiquitin-like.		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.212G>C	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174059	0.78452	.	.	ENSG00000160803	ENST00000368309;ENST00000368307	D;D	0.97480	-4.4;-4.4	4.9	3.98	0.46160	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.94132	0.8118	M	0.66297	2.02	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.22880	0.042;0.042	D	0.92980	0.6405	10	0.72032	D	0.01	-30.0998	14.1257	0.65219	0.0:0.8485:0.1515:0.0	.	71;71	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	A	71	ENSP00000357292:G71A;ENSP00000357290:G71A	ENSP00000357290:G71A	G	-	2	0	UBQLN4	154288169	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.643000	0.83403	1.266000	0.44231	-0.304000	0.09214	GGA		0.537	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131	
IQGAP3	128239	broad.mit.edu	37	1	156501015	156501015	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156501015G>C	ENST00000361170.2	-	33	4138	c.4128C>G	c.(4126-4128)atC>atG	p.I1376M	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1376					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAACTGTATGATATCGGCCA	0.587																																						uc001fpf.2																			0				ovary(5)|skin(1)	6						c.(4126-4128)ATC>ATG		IQ motif containing GTPase activating protein 3							147.0	132.0	137.0					1																	156501015		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156501015G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4128C>G	1.37:g.156501015G>C	ENSP00000354451:p.Ile1376Met						p.I1376M	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			33	4203	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1376					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4128C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193205	0.22037	.	.	ENSG00000183856	ENST00000361170	T	0.46819	0.86	4.68	3.76	0.43208	.	0.146062	0.47852	D	0.000203	T	0.14570	0.0352	L	0.39397	1.21	0.28832	N	0.897097	P	0.39216	0.664	B	0.27500	0.08	T	0.10497	-1.0627	10	0.87932	D	0	-9.8369	5.0628	0.14566	0.1847:0.1736:0.6417:0.0	.	1376	Q86VI3	IQGA3_HUMAN	M	1376	ENSP00000354451:I1376M	ENSP00000354451:I1376M	I	-	3	3	IQGAP3	154767639	1.000000	0.71417	0.978000	0.43139	0.561000	0.35649	1.163000	0.31798	1.308000	0.44962	0.655000	0.94253	ATC		0.587	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
NTRK1	4914	broad.mit.edu	37	1	156834161	156834161	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156834161G>A	ENST00000524377.1	+	2	269	c.228G>A	c.(226-228)caG>caA	p.Q76Q	NTRK1_ENST00000368196.3_Silent_p.Q76Q|NTRK1_ENST00000392302.2_Silent_p.Q46Q|NTRK1_ENST00000358660.3_Silent_p.Q76Q	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	76					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCGAGAACCAGCAGCATCTGC	0.597			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(226-228)CAG>CAA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						83.0	75.0	78.0					1																	156834161		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156834161G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.228G>A	1.37:g.156834161G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.Q46Q|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.Q76Q|NTRK1_uc009wsk.1_Silent_p.Q76Q	p.Q76Q	NM_002529	NP_002520	P04629	NTRK1_HUMAN			2	284	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		76			Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.228G>A	CCDS1161.1																																																																																				0.597	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
ARHGEF11	9826	broad.mit.edu	37	1	156917714	156917714	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156917714C>T	ENST00000361409.2	-	24	2810	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D730N|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.D106N|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	690					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGGTATCTGTGCAGAAC	0.562																																						uc001fqo.2																			0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(2068-2070)GAT>AAT		Rho guanine nucleotide exchange factor (GEF) 11							40.0	41.0	41.0					1																	156917714		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917714C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2068G>A	1.37:g.156917714C>T	ENSP00000354644:p.Asp690Asn					ARHGEF11_uc010phu.1_Missense_Mutation_p.D106N|ARHGEF11_uc001fqn.2_Missense_Mutation_p.D730N	p.D690N	NM_014784	NP_055599	O15085	ARHGB_HUMAN			24	3108	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		690					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2068G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870025	0.91587	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.68765	-0.34;-0.35;-0.22	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000012	T	0.51941	0.1704	N	0.08118	0	0.44012	D	0.996728	D;D;D	0.58620	0.963;0.983;0.963	P;P;P	0.54238	0.631;0.746;0.723	T	0.62091	-0.6927	10	0.49607	T	0.09	-20.3163	18.2298	0.89931	0.0:1.0:0.0:0.0	.	106;690;730	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	N	730;690;106	ENSP00000357177:D730N;ENSP00000354644:D690N;ENSP00000313470:D106N	ENSP00000313470:D106N	D	-	1	0	ARHGEF11	155184338	0.954000	0.32549	0.717000	0.30585	0.802000	0.45316	3.597000	0.54031	2.653000	0.90120	0.561000	0.74099	GAT		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
F5	2153	broad.mit.edu	37	1	169489788	169489788	+	Nonsense_Mutation	SNP	G	G	A	rs199690772		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:169489788G>A	ENST00000367797.3	-	22	6364	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	F5_ENST00000367796.3_Nonsense_Mutation_p.R2060*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2055	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGTTCCAATCGAAGGGTAGGT	0.403																																						uc001ggg.1																			0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6163-6165)CGA>TGA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						98.0	99.0	99.0					1																	169489788		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169489788G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6163C>T	1.37:g.169489788G>A	ENSP00000356771:p.Arg2055*						p.R2055*	NM_000130	NP_000121	P12259	FA5_HUMAN			22	6308	-	all_hematologic(923;0.208)		2055			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.6163C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	48	14.129090	0.99781	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6985	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	X	2055;2060	.	ENSP00000356770:R2060X	R	-	1	2	F5	167756412	1.000000	0.71417	0.985000	0.45067	0.842000	0.47809	8.508000	0.90525	2.735000	0.93741	0.655000	0.94253	CGA		0.403	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
LGR6	59352	broad.mit.edu	37	1	202287759	202287759	+	Silent	SNP	C	C	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:202287759C>A	ENST00000367278.3	+	18	2417	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A	LGR6_ENST00000255432.7_Silent_p.A724A|LGR6_ENST00000439764.2_Silent_p.A637A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	776					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCACGTGGCCTGGCTCATCT	0.637																																						uc001gxu.2																			0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2326-2328)GCC>GCA		leucine-rich repeat-containing G protein-coupled							100.0	79.0	86.0					1																	202287759		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287759C>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2328C>A	1.37:g.202287759C>A						LGR6_uc001gxv.2_Silent_p.A724A|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.A637A	p.A776A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2328	+			776			Helical; Name=6; (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2328C>A	CCDS30971.1																																																																																				0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
RASSF5	83593	broad.mit.edu	37	1	206711530	206711530	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206711530C>T	ENST00000355294.4	+	2	544	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	RASSF5_ENST00000367117.3_Missense_Mutation_p.R163C	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	163					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGAATGCCGCAGCCTGAT	0.532																																					GBM(162;656 1984 11916 22872 31529)	uc001hed.2																			0				ovary(1)	1						c.(487-489)CGC>TGC		Ras association (RalGDS/AF-6) domain family 5							137.0	126.0	130.0					1																	206711530		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206711530C>T	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.487C>T	1.37:g.206711530C>T	ENSP00000347443:p.Arg163Cys					RASSF5_uc001hec.1_Missense_Mutation_p.R163C|RASSF5_uc001hee.2_Missense_Mutation_p.R163C	p.R163C	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	544	+	Breast(84;0.183)		163			Phorbol-ester/DAG-type.		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.487C>T	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394735	0.83011	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	D;D;D	0.92699	-3.09;-3.09;-3.09	5.84	5.84	0.93424	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.219339	0.40728	N	0.001040	D	0.95506	0.8540	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.79784	0.987;0.893;0.993	D	0.95465	0.8546	10	0.72032	D	0.01	-12.2298	15.6435	0.77029	0.0:1.0:0.0:0.0	.	163;163;165	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	C	163	ENSP00000347443:R163C;ENSP00000356084:R163C;ENSP00000342620:R163C	ENSP00000342620:R163C	R	+	1	0	RASSF5	204778153	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.427000	0.34881	2.769000	0.95229	0.563000	0.77884	CGC		0.532	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437	
MAPKAPK2	9261	broad.mit.edu	37	1	206902080	206902080	+	Missense_Mutation	SNP	G	G	A	rs151079567		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206902080G>A	ENST00000367103.3	+	2	498	c.305G>A	c.(304-306)cGc>cAc	p.R102H	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.R102H	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCCAAGGCCCGCAGGGAGGTG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		15557	0.0		0.001	False		,,,				2504	0.0					uc001hem.1																			0					0						c.(304-306)CGC>CAC		mitogen-activated protein kinase-activated							32.0	36.0	35.0					1																	206902080		2202	4300	6502	SO:0001583	missense	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206902080G>A	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.305G>A	1.37:g.206902080G>A	ENSP00000356070:p.Arg102His					MAPKAPK2_uc001hel.1_Missense_Mutation_p.R102H	p.R102H	NM_032960	NP_116584	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		2	591	+	Breast(84;0.183)		102			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.305G>A	CCDS31001.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.621345	0.96660	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.65732	-0.17;-0.17	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.75317	0.3833	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.77233	-0.2663	9	0.72032	D	0.01	-19.4649	17.6126	0.88058	0.0:0.0:1.0:0.0	.	102;102	P49137;P49137-2	MAPK2_HUMAN;.	H	102	ENSP00000294981:R102H;ENSP00000356070:R102H	ENSP00000294981:R102H	R	+	2	0	MAPKAPK2	204968703	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.954000	0.87848	2.495000	0.84180	0.655000	0.94253	CGC		0.622	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759	
ESRRG	2104	broad.mit.edu	37	1	216737723	216737723	+	Splice_Site	SNP	C	C	G			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:216737723C>G	ENST00000408911.3	-	5	854		c.e5-1		ESRRG_ENST00000360012.3_Splice_Site|ESRRG_ENST00000366937.1_Missense_Mutation_p.D246H|ESRRG_ENST00000366938.2_Splice_Site|ESRRG_ENST00000463665.1_Splice_Site|ESRRG_ENST00000359162.2_Splice_Site|ESRRG_ENST00000361525.3_Splice_Site|ESRRG_ENST00000366940.2_Splice_Site|ESRRG_ENST00000493603.1_Splice_Site|ESRRG_ENST00000391890.3_Missense_Mutation_p.D218H|ESRRG_ENST00000487276.1_Splice_Site|ESRRG_ENST00000361395.2_Splice_Site|ESRRG_ENST00000493748.1_Splice_Site	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma						gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCTTGTTATCTGCAGGATCA	0.433																																						uc001hkw.1																			0				ovary(1)|kidney(1)	2						c.e5-1		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						128.0	110.0	116.0					1																	216737723		2203	4300	6503	SO:0001630	splice_region_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737723C>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.701-1G>C	1.37:g.216737723C>G						ESRRG_uc001hky.1_Splice_Site_p.Y211_splice|ESRRG_uc009xdp.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkz.1_Splice_Site_p.Y172_splice|ESRRG_uc010puc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hla.1_Splice_Site_p.Y211_splice|ESRRG_uc001hlb.1_Splice_Site_p.Y211_splice|ESRRG_uc010pud.1_Splice_Site_p.Y42_splice|ESRRG_uc001hlc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hld.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkx.1_Missense_Mutation_p.D246H|ESRRG_uc009xdo.1_Splice_Site_p.Y211_splice|ESRRG_uc001hle.1_Splice_Site_p.Y211_splice	p.Y234_splice	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	867	-								A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Splice_Site	SNP	ENST00000408911.3	37	c.701_splice	CCDS41468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.796424|4.796424	0.90453|0.90453	.|.	.|.	ENSG00000196482|ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275|ENST00000366937;ENST00000391890	.|D;D	.|0.98585	.|-5.01;-5.01	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|.	.|.	.|.	.|.	.|D	.|0.98485	.|0.9495	.|.	.|.	.|.	0.43222|0.43222	D|D	0.995106|0.995106	.|D	.|0.65815	.|0.995	.|P	.|0.55824	.|0.785	.|D	.|0.98693	.|1.0697	.|7	.|.	.|.	.|.	.|.	19.3057|19.3057	0.94161|0.94161	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246	.|F8W8J3	.|.	.|H	-1|246;218	.|ENSP00000355904:D246H;ENSP00000375761:D218H	.|.	.|D	-|-	.|1	.|0	ESRRG|ESRRG	214804346|214804346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	.|GAT		0.433	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	Intron
AKR1E2	83592	broad.mit.edu	37	10	4873008	4873008	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:4873008C>T	ENST00000298375.7	+	2	252	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	AKR1E2_ENST00000532248.1_Missense_Mutation_p.R61W|AKR1E2_ENST00000334019.4_Missense_Mutation_p.R61W|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R61W	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	61						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.R61W(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CGCTGTAAGACGGGAGGATCT	0.507																																					NSCLC(43;343 1097 20371 28813 45509)	uc001ihi.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(181-183)CGG>TGG		aldo-keto reductase family 1, member E2							158.0	132.0	141.0					10																	4873008		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4873008C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.181C>T	10.37:g.4873008C>T	ENSP00000298375:p.Arg61Trp					AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihh.1_Missense_Mutation_p.R61W|AKR1E2_uc009xhw.2_Missense_Mutation_p.R61W|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R61W	p.R61W	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN			2	296	+			61					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.181C>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172125	0.21704	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.70045	-0.45;1.24;1.24;1.24;1.24	4.01	0.922	0.19408	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.86472	0.5941	H	0.98111	4.15	0.38162	D	0.939051	D;P;P;D	0.89917	1.0;0.68;0.884;0.995	D;B;P;P	0.97110	1.0;0.393;0.662;0.801	D	0.88713	0.3224	10	0.87932	D	0	.	11.2157	0.48825	0.6649:0.3351:0.0:0.0	.	61;61;61;61	Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;AKCL2_HUMAN;.	W	65;61;61;61;61	ENSP00000435436:R65W;ENSP00000298375:R61W;ENSP00000432947:R61W;ENSP00000335034:R61W;ENSP00000335603:R61W	ENSP00000298375:R61W	R	+	1	2	AKR1E2	4863008	0.013000	0.17824	0.078000	0.20375	0.025000	0.11179	0.135000	0.15952	0.202000	0.20498	-0.314000	0.08810	CGG		0.507	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436	
ITIH2	3698	broad.mit.edu	37	10	7762869	7762869	+	Silent	SNP	C	C	T	rs144114794		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:7762869C>T	ENST00000358415.4	+	7	847	c.681C>T	c.(679-681)ccC>ccT	p.P227P	ITIH2_ENST00000379587.4_Silent_p.P216P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	227					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P227P(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCATGTTCCCGACACATTTG	0.453																																						uc001ijs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(679-681)CCC>CCT		inter-alpha globulin inhibitor H2 polypeptide		C		0,4406		0,0,2203	164.0	140.0	148.0		681	-1.7	1.0	10	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITIH2	NM_002216.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		227/947	7762869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762869C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.681C>T	10.37:g.7762869C>T							p.P227P	NM_002216	NP_002207	P19823	ITIH2_HUMAN			7	843	+			227					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.681C>T	CCDS31141.1																																																																																				0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
CCDC7	79741	broad.mit.edu	37	10	33000595	33000595	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:33000595T>C	ENST00000375030.2	+	10	1069	c.451T>C	c.(451-453)Tca>Cca	p.S151P	C10orf68_ENST00000375028.3_Missense_Mutation_p.S119P|C10orf68_ENST00000375025.4_Missense_Mutation_p.S143P			Q9H943	CJ068_HUMAN		143										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACATCAAGATTCAGTGTCAAA	0.308																																						uc001iwn.3																			0				skin(2)|ovary(1)	3						c.(427-429)TCA>CCA		chromosome 10 open reading frame 68							67.0	70.0	69.0					10																	33000595		2203	4297	6500	SO:0001583	missense	79741							g.chr10:33000595T>C																												ENST00000375030.2:c.451T>C	10.37:g.33000595T>C	ENSP00000364170:p.Ser151Pro					C10orf68_uc001iwl.1_Missense_Mutation_p.S151P|C10orf68_uc001iwm.1_Missense_Mutation_p.S119P|C10orf68_uc010qei.1_Missense_Mutation_p.S70P	p.S143P	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			7	900	+			143					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.427T>C		.	.	.	.	.	.	.	.	.	.	.	4.289	0.052756	0.08291	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.34275	1.52;1.49;1.37;1.5	2.71	0.303	0.15791	.	.	.	.	.	T	0.28896	0.0717	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.21905	0.009;0.025;0.009;0.062	B;B;B;B	0.20384	0.018;0.018;0.018;0.029	T	0.30416	-0.9979	9	0.72032	D	0.01	.	4.5992	0.12345	0.0:0.125:0.1967:0.6783	.	75;143;119;151	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	P	143;151;119;143;91	ENSP00000303710:S143P;ENSP00000364170:S151P;ENSP00000364168:S119P;ENSP00000364165:S143P	ENSP00000303710:S143P	S	+	1	0	C10orf68	33040601	0.001000	0.12720	0.016000	0.15963	0.035000	0.12851	0.137000	0.15995	-0.270000	0.09285	-2.386000	0.00229	TCA		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		
NAV3	89795	broad.mit.edu	37	12	78591133	78591133	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:78591133C>G	ENST00000397909.2	+	35	6571	c.6398C>G	c.(6397-6399)tCt>tGt	p.S2133C	NAV3_ENST00000228327.6_Missense_Mutation_p.S2111C|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000266692.7_Missense_Mutation_p.S1934C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2111C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2133						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATGTGGGCTCTCTGAGTGAT	0.328										HNSCC(70;0.22)																												uc001syp.2																			0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6397-6399)TCT>TGT		neuron navigator 3							123.0	110.0	114.0					12																	78591133		1825	4080	5905	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78591133C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6398C>G	12.37:g.78591133C>G	ENSP00000381007:p.Ser2133Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S2111C|NAV3_uc010sub.1_Missense_Mutation_p.S1590C|NAV3_uc009zsf.2_Missense_Mutation_p.S942C	p.S2133C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			35	6571	+			2133					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6398C>G		.	.	.	.	.	.	.	.	.	.	C	25.8	4.671054	0.88348	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.36878	1.29;1.27;1.28;1.23;2.01	5.54	5.54	0.83059	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.39146	U	0.001452	T	0.71854	0.3389	M	0.93283	3.4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.999;0.998	T	0.79001	-0.1981	10	0.72032	D	0.01	-13.8557	19.8339	0.96646	0.0:1.0:0.0:0.0	.	2111;1934;2133;2111	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	C	2111;2133;2111;1934;725;733	ENSP00000446132:S2111C;ENSP00000381007:S2133C;ENSP00000228327:S2111C;ENSP00000266692:S1934C;ENSP00000448303:S733C	ENSP00000228327:S2111C	S	+	2	0	NAV3	77115264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.751000	0.94390	0.655000	0.94253	TCT		0.328	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PAWR	5074	broad.mit.edu	37	12	80014954	80014954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:80014954G>A	ENST00000328827.4	-	3	922	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	184	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGCTCTTTCTGCCCTGCTTCA	0.363																																						uc001syx.2																			0					0						c.(550-552)CAG>TAG		PRKC, apoptosis, WT1, regulator							291.0	228.0	249.0					12																	80014954		2203	4300	6503	SO:0001587	stop_gained	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80014954G>A	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.550C>T	12.37:g.80014954G>A	ENSP00000328088:p.Gln184*						p.Q184*	NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN			3	836	-			184			Selective for apoptosis induction in cancer cells (SAC).		O75796|Q6FHY9|Q8N700	Nonsense_Mutation	SNP	ENST00000328827.4	37	c.550C>T	CCDS31863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.082302|7.082302	0.98051|0.98051	.|.	.|.	ENSG00000177425|ENSG00000177425	ENST00000551712|ENST00000328827	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.063176	.|0.64402	.|D	.|0.000006	T|.	0.74854|.	0.3771|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72537|.	-0.4263|.	3|.	.|.	.|.	.|.	-11.6622|-11.6622	18.588|18.588	0.91197|0.91197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	129|184	.|.	.|.	A|Q	-|-	2|1	0|0	PAWR|PAWR	78539085|78539085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.625000|6.625000	0.74248|0.74248	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.363	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583	
FRY	10129	broad.mit.edu	37	13	32735289	32735289	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:32735289G>A	ENST00000380250.3	+	17	2289	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	598						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGGGTGAGAGAAAGCCAAAA	0.358																																						uc001utx.2																			0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1792-1794)AGA>AAA		furry homolog							139.0	126.0	130.0					13																	32735289		1852	4090	5942	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32735289G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1793G>A	13.37:g.32735289G>A	ENSP00000369600:p.Arg598Lys					FRY_uc010tdw.1_RNA	p.R598K	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	17	2289	+		Lung SC(185;0.0271)	598					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1793G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474684	0.96291	.	.	ENSG00000073910	ENST00000380250	T	0.24723	1.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.84433	2.695	0.80722	D	1	P	0.51933	0.949	P	0.55577	0.779	T	0.46091	-0.9216	10	0.17832	T	0.49	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	598	Q5TBA9	FRY_HUMAN	K	598	ENSP00000369600:R598K	ENSP00000369600:R598K	R	+	2	0	FRY	31633289	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	AGA		0.358	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FARP1	10160	broad.mit.edu	37	13	99042246	99042246	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:99042246C>T	ENST00000319562.6	+	10	1156	c.891C>T	c.(889-891)gcC>gcT	p.A297A	FARP1_ENST00000376586.2_Silent_p.A297A|FARP1_ENST00000595437.1_Silent_p.A297A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	297	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTGATGGCCAGTCGGGATT	0.443																																						uc001vnj.2																			0				breast(2)	2						c.(889-891)GCC>GCT		FERM, RhoGEF, and pleckstrin domain protein 1							124.0	125.0	125.0					13																	99042246		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99042246C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.891C>T	13.37:g.99042246C>T						FARP1_uc001vnh.2_Silent_p.A297A	p.A297A	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		10	1227	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		297			FERM.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.891C>T	CCDS9487.1																																																																																				0.443	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
UNC79	57578	broad.mit.edu	37	14	94041533	94041533	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr14:94041533G>C	ENST00000393151.2	+	17	2200	c.2200G>C	c.(2200-2202)Gca>Cca	p.A734P	UNC79_ENST00000553484.1_Missense_Mutation_p.A734P|UNC79_ENST00000555664.1_Missense_Mutation_p.A734P|UNC79_ENST00000256339.4_Missense_Mutation_p.A557P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	734					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGGGAACCTTGCATCTCGAAG	0.373																																						uc001ybv.1																			0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1669-1671)GCA>CCA		hypothetical protein LOC57578							124.0	121.0	122.0					14																	94041533		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94041533G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2200G>C	14.37:g.94041533G>C	ENSP00000376858:p.Ala734Pro					KIAA1409_uc001ybs.1_Missense_Mutation_p.A557P	p.A557P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	14	1752	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	734					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1669G>C		.	.	.	.	.	.	.	.	.	.	G	22.5	4.303725	0.81136	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19394	2.16;2.16;2.15;2.16	5.07	4.15	0.48705	.	0.152917	0.42548	D	0.000684	T	0.21145	0.0509	N	0.08118	0	0.44771	D	0.997775	D	0.63880	0.993	P	0.58210	0.835	T	0.10941	-1.0608	10	0.30854	T	0.27	-7.5174	14.8942	0.70630	0.0:0.0:0.8555:0.1445	.	734	C9JQL1	.	P	557;734;734;734;734	ENSP00000256339:A557P;ENSP00000450868:A734P;ENSP00000451360:A734P;ENSP00000376858:A734P	ENSP00000256339:A557P	A	+	1	0	KIAA1409	93111286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	1.199000	0.43173	0.655000	0.94253	GCA		0.373	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
GOLGA8F	100132565	broad.mit.edu	37	15	28629364	28629364	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr15:28629364G>A	ENST00000450328.2	+	8	943	c.45G>A	c.(43-45)ctG>ctA	p.L15L	GOLGA8F_ENST00000532622.2_Silent_p.L233L|GOLGA8F_ENST00000526619.2_Silent_p.L15L|GOLGA8F_ENST00000337838.7_Silent_p.L15L|RN7SL238P_ENST00000465782.2_RNA			Q08AF8	GOG8F_HUMAN	golgin A8 family, member F	15						Golgi apparatus (GO:0005794)				lung(4)	4						AGGCACTGCTGAAAGCGCAGC	0.542																																						uc010uag.1																			0					0						c.(661-663)CTG>CTA		golgi autoantigen, golgin subfamily a, 8F																																				SO:0001819	synonymous_variant	100132565							g.chr15:28629364G>A			15q13.1	2013-01-17	2010-02-12		ENSG00000153684	ENSG00000153684			32378	other	unknown			"""golgi autoantigen, golgin subfamily a, 8F"""			12477932	Standard	NR_033351		Approved	DKFZp434P162	uc010uag.1	Q08AF8	OTTHUMG00000167129	ENST00000450328.2:c.45G>A	15.37:g.28629364G>A						GOLGA8G_uc001zbp.3_Silent_p.L15L|GOLGA8G_uc001zbo.2_Silent_p.L15L|GOLGA8G_uc001zbn.2_Silent_p.L15L|uc001zbq.2_5'Flank	p.L221L	NM_001164328	NP_001157800					9	787	+								A4FTY1|Q1A5X9|Q8NDK0	Silent	SNP	ENST00000450328.2	37	c.663G>A																																																																																					0.542	GOLGA8F-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NR_033351.1	
CHD2	1106	broad.mit.edu	37	15	93567832	93567834	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr15:93567832_93567834delCTC	ENST00000394196.4	+	39	6452_6454	c.5384_5386delCTC	c.(5383-5388)tctcct>tct	p.P1796del		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1796					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTCAGAAATCTCCTCACGATTC	0.468																																						uc002bsp.2																			0				ovary(1)|skin(1)	2						c.(5383-5388)TCTCCT>TCT		chromodomain helicase DNA binding protein 2																																				SO:0001651	inframe_deletion	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567832_93567834delCTC	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5384_5386delCTC	15.37:g.93567835_93567837delCTC	ENSP00000377747:p.Pro1796del						p.P1796del	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	5959_5961	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1796					C6G482|Q96IP5	In_Frame_Del	DEL	ENST00000394196.4	37	c.5384_5386delCTC	CCDS10374.2																																																																																				0.468	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
UBFD1	56061	broad.mit.edu	37	16	23570883	23570883	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr16:23570883C>T	ENST00000395878.3	+	3	831	c.450C>T	c.(448-450)atC>atT	p.I150I	EARS2_ENST00000563232.1_5'Flank|EARS2_ENST00000564501.1_5'Flank|UBFD1_ENST00000219638.4_Silent_p.I374I|UBFD1_ENST00000567212.1_Silent_p.I141I|EARS2_ENST00000449606.1_5'Flank|UBFD1_ENST00000571064.1_3'UTR|EARS2_ENST00000563459.1_5'Flank|UBFD1_ENST00000567264.1_Silent_p.I150I	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	150	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCCAAGATCATGGTGGTTG	0.502																																					Melanoma(22;290 1069 22358 48158)	uc002dlv.2																			0					0						c.(448-450)ATC>ATT		ubiquitin-binding protein homolog							58.0	57.0	58.0					16																	23570883		1854	4089	5943	SO:0001819	synonymous_variant	56061							g.chr16:23570883C>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.450C>T	16.37:g.23570883C>T						EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	p.I150I	NM_019116	NP_061989	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	3	652	+			150			Ubiquitin-like.		A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.450C>T	CCDS10613.2																																																																																				0.502	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116	
RNMTL1	55178	broad.mit.edu	37	17	695048	695048	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:695048G>A	ENST00000304478.4	+	4	1108	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGATTGGCTGCCTCATGTTG	0.552																																						uc002frw.2																			0				ovary(1)	1						c.(1000-1002)CTG>CTA		RNA methyltransferase like 1							65.0	66.0	65.0					17																	695048		2203	4300	6503	SO:0001819	synonymous_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:695048G>A	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1002G>A	17.37:g.695048G>A							p.L334L	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	4	1108	+			334						Silent	SNP	ENST00000304478.4	37	c.1002G>A	CCDS10997.1																																																																																				0.552	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146	
ALDH3A1	218	broad.mit.edu	37	17	19641725	19641725	+	Missense_Mutation	SNP	C	C	T	rs113168621		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:19641725C>T	ENST00000457500.2	-	9	1587	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.E347K|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E420K|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E356K|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E420K|RP11-311F12.2_ENST00000580884.1_RNA	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	420					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GAGAAAGTCTCGAAGCTCTTC	0.612																																						uc010cqu.2																			0				ovary(1)|pancreas(1)	2						c.(1258-1260)GAG>AAG		aldehyde dehydrogenase 3A1	NADH(DB00157)						64.0	67.0	66.0					17																	19641725		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19641725C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1258G>A	17.37:g.19641725C>T	ENSP00000411821:p.Glu420Lys					ALDH3A1_uc010vzd.1_Missense_Mutation_p.E420K|ALDH3A1_uc002gwj.2_Missense_Mutation_p.E420K|ALDH3A1_uc010cqv.2_Missense_Mutation_p.E419K|ALDH3A1_uc002gwk.2_Missense_Mutation_p.E537K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E347K	p.E420K	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	9	1588	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		420					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.1258G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273512	0.59649	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844	T;D;T;T	0.84944	-1.13;-1.92;-1.13;-1.13	4.56	3.57	0.40892	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.217990	0.44483	D	0.000450	T	0.69305	0.3096	N	0.13371	0.34	0.48341	D	0.999637	B;D;B	0.53151	0.422;0.958;0.422	B;B;B	0.35971	0.029;0.215;0.029	T	0.76138	-0.3069	10	0.66056	D	0.02	-23.9589	11.9274	0.52827	0.0:0.913:0.0:0.087	.	420;537;420	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	K	420;356;478;420;420;347	ENSP00000225740:E420K;ENSP00000378923:E356K;ENSP00000388469:E420K;ENSP00000411821:E420K	ENSP00000225740:E420K	E	-	1	0	ALDH3A1	19582317	0.876000	0.30132	0.998000	0.56505	0.811000	0.45836	1.491000	0.35583	2.091000	0.63221	0.462000	0.41574	GAG		0.612	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691	
GAS2L2	246176	broad.mit.edu	37	17	34072169	34072169	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:34072169G>A	ENST00000254466.6	-	6	2374	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R767W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	783					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)		TGGTCTCTCCGGGGCCGAATC	0.612																																						uc002hjv.1																			0				ovary(1)|skin(1)	2						c.(2347-2349)CGG>TGG		growth arrest-specific 2 like 2							85.0	90.0	88.0					17																	34072169		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072169G>A	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.2347C>T	17.37:g.34072169G>A	ENSP00000254466:p.Arg783Trp						p.R783W	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2375	-		Ovarian(249;0.17)	783					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2347C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073668	0.76415	.	.	ENSG00000132139	ENST00000254466	T	0.56444	0.46	4.69	3.69	0.42338	.	0.178045	0.37348	N	0.002131	T	0.61887	0.2383	L	0.36672	1.1	0.49483	D	0.999791	D	0.89917	1.0	D	0.91635	0.999	T	0.65158	-0.6236	10	0.87932	D	0	-25.3201	12.8355	0.57771	0.0:0.0:0.8356:0.1644	.	783	Q8NHY3	GA2L2_HUMAN	W	783	ENSP00000254466:R783W	ENSP00000254466:R783W	R	-	1	2	GAS2L2	31096282	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.901000	0.56303	1.167000	0.42706	0.561000	0.74099	CGG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
USH1G	124590	broad.mit.edu	37	17	72915620	72915620	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:72915620C>T	ENST00000319642.1	-	2	1493	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	437	SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCAAGATCTTCTTTCGGGGCC	0.682																																						uc002jme.1																			0				skin(2)	2						c.(1309-1311)AAG>AAA		Usher syndrome 1G protein							24.0	27.0	26.0					17																	72915620		2198	4277	6475	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915620C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1311G>A	17.37:g.72915620C>T						USH1G_uc010wro.1_Silent_p.K334K	p.K437K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	1494	-	all_lung(278;0.172)|Lung NSC(278;0.207)		437			SAM.		Q8N251	Silent	SNP	ENST00000319642.1	37	c.1311G>A	CCDS32725.1																																																																																				0.682	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477	
INO80C	125476	broad.mit.edu	37	18	33060423	33060423	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:33060423G>A	ENST00000334598.7	-	2	377	c.261C>T	c.(259-261)aaC>aaT	p.N87N	INO80C_ENST00000592173.1_Silent_p.N87N|INO80C_ENST00000586489.1_Silent_p.N32N|INO80C_ENST00000590757.1_Intron|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Silent_p.N123N	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	87					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						TTACCACAAAGTTGGGATCCT	0.483																																						uc002kyy.3																			0					0						c.(259-261)AAC>AAT		Ies6-similar protein isoform 2							165.0	147.0	154.0					18																	33060423		2203	4300	6503	SO:0001819	synonymous_variant	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33060423G>A		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.261C>T	18.37:g.33060423G>A						INO80C_uc002kyw.1_Silent_p.N87N|INO80C_uc002kyx.3_Silent_p.N32N|INO80C_uc010dmt.2_Silent_p.N123N	p.N87N	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN			2	378	-			87					B4DUI4|E9PCS7|Q86WR1|Q8N994	Silent	SNP	ENST00000334598.7	37	c.261C>T	CCDS11914.1																																																																																				0.483	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281	
SERPINB4	6318	broad.mit.edu	37	18	61310407	61310407	+	Silent	SNP	A	A	T	rs572013661		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:61310407A>T	ENST00000341074.5	-	3	325	c.210T>A	c.(208-210)gcT>gcA	p.A70A	SERPINB4_ENST00000356424.6_Silent_p.A70A	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	70					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GATATGTTGCAGCTTTTTCTG	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		22007	0.001		0.0	False		,,,				2504	0.0					uc002ljf.2																			0				ovary(2)|lung(1)	3						c.(208-210)GCT>GCA		serine (or cysteine) proteinase inhibitor, clade							119.0	108.0	112.0					18																	61310407		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61310407A>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.210T>A	18.37:g.61310407A>T						SERPINB4_uc002lje.2_Silent_p.A70A|SERPINB4_uc002ljg.2_Intron	p.A70A	NM_002974	NP_002965	P48594	SPB4_HUMAN			3	296	-			70					A8K847	Silent	SNP	ENST00000341074.5	37	c.210T>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	A	4.783	0.145589	0.09134	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.94	-3.28	0.05033	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	.	5.1289	0.14899	0.3984:0.1777:0.4238:0.0	.	.	.	.	Q	72	.	.	L	-	2	0	SERPINB4	59461387	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.341000	0.19909	-0.741000	0.04797	0.416000	0.27883	CTG		0.403	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
CNDP1	84735	broad.mit.edu	37	18	72223637	72223637	+	Missense_Mutation	SNP	C	C	T	rs559481897		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:72223637C>T	ENST00000358821.3	+	2	317	c.89C>T	c.(88-90)cCg>cTg	p.P30L	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	30						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCACCCTCCCCGCCCCCGGCG	0.537																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2																			0					0						c.(88-90)CCG>CTG		carnosinase 1 precursor							70.0	68.0	69.0					18																	72223637		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72223637C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.89C>T	18.37:g.72223637C>T	ENSP00000351682:p.Pro30Leu						p.P30L	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	2	300	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	30					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.89C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327357	0.24080	.	.	ENSG00000150656	ENST00000358821	T	0.13538	2.58	5.81	0.862	0.19056	.	0.572198	0.20281	N	0.095453	T	0.08403	0.0209	L	0.38175	1.15	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.30851	-0.9964	10	0.34782	T	0.22	-4.436	2.5673	0.04786	0.2163:0.478:0.1058:0.1999	.	30	Q96KN2	CNDP1_HUMAN	L	30	ENSP00000351682:P30L	ENSP00000351682:P30L	P	+	2	0	CNDP1	70374617	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.410000	0.21098	-0.359000	0.08150	-2.511000	0.00188	CCG		0.537	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649	
SAFB2	9667	broad.mit.edu	37	19	5587916	5587916	+	Silent	SNP	G	G	A	rs372249286		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:5587916G>A	ENST00000252542.4	-	19	2865	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	867	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCGCGCCTGCGTCCATGGCAC	0.672																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2																			0					0						c.(2599-2601)GAC>GAT		scaffold attachment factor B2		A		0,4404		0,0,2202	16.0	19.0	18.0		2601	-1.1	0.0	19		18	1,8593		0,1,4296	no	coding-synonymous	SAFB2	NM_014649.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		867/954	5587916	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5587916G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2601C>T	19.37:g.5587916G>A							p.D867D	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	19	2813	-			867			Interacts with SAFB1.|Gly-rich.		B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.2601C>T	CCDS32879.1																																																																																				0.672	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
FBN3	84467	broad.mit.edu	37	19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:8190851C>T	ENST00000600128.1	-	22	3070	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	FBN3_ENST00000601739.1_Missense_Mutation_p.V886I|FBN3_ENST00000270509.2_Missense_Mutation_p.V886I			Q75N90	FBN3_HUMAN	fibrillin 3	886	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGTTGACGCAACGCCCG	0.637																																						uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(2656-2658)GTC>ATC		fibrillin 3 precursor							68.0	58.0	61.0					19																	8190851		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190851C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2656G>A	19.37:g.8190851C>T	ENSP00000470498:p.Val886Ile						p.V886I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			21	2677	-			886			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2656G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	5.198	0.221976	0.09863	.	.	ENSG00000142449	ENST00000270509	D	0.90324	-2.65	4.0	-3.64	0.04515	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.309128	0.28694	N	0.014452	T	0.77123	0.4084	N	0.12961	0.28	0.29881	N	0.826019	B	0.09022	0.002	B	0.04013	0.001	T	0.61247	-0.7101	10	0.30078	T	0.28	.	8.8603	0.35253	0.0:0.4287:0.1847:0.3866	.	886	Q75N90	FBN3_HUMAN	I	886	ENSP00000270509:V886I	ENSP00000270509:V886I	V	-	1	0	FBN3	8096851	0.433000	0.25562	0.079000	0.20413	0.001000	0.01503	-0.127000	0.10547	-1.022000	0.03346	-2.349000	0.00243	GTC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MAU2	23383	broad.mit.edu	37	19	19459728	19459728	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:19459728G>A	ENST00000392313.6	+	14	1518	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	MAU2_ENST00000262815.8_Missense_Mutation_p.D447N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	447					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GATCAACCCGGACCACAGCTT	0.617																																						uc002nmk.3																			0					0						c.(1339-1341)GAC>AAC		hypothetical protein LOC23383 precursor							101.0	94.0	96.0					19																	19459728		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19459728G>A	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1339G>A	19.37:g.19459728G>A	ENSP00000376127:p.Asp447Asn					KIAA0892_uc002nml.3_Missense_Mutation_p.D52N|KIAA0892_uc010ecd.2_Missense_Mutation_p.D52N|KIAA0892_uc010ece.2_Missense_Mutation_p.D23N	p.D447N	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN			14	1378	+			447					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1339G>A	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351084	0.61183	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.63417	-0.04;-0.04	4.55	4.55	0.56014	.	0.101555	0.64402	D	0.000003	T	0.57784	0.2077	N	0.03608	-0.345	0.80722	D	1	D;D;P	0.60575	0.988;0.988;0.845	D;P;B	0.77557	0.99;0.908;0.425	T	0.62263	-0.6891	10	0.23302	T	0.38	.	16.2331	0.82357	0.0:0.0:1.0:0.0	.	23;52;447	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	N	447	ENSP00000376127:D447N;ENSP00000262815:D447N	ENSP00000262815:D447N	D	+	1	0	MAU2	19320728	1.000000	0.71417	0.924000	0.36721	0.910000	0.53928	8.898000	0.92538	2.244000	0.73946	0.563000	0.77884	GAC		0.617	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
MYH14	79784	broad.mit.edu	37	19	50792885	50792885	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:50792885C>T	ENST00000596571.1	+	32	4822	c.4822C>T	c.(4822-4824)Cgg>Tgg	p.R1608W	MYH14_ENST00000376970.2_Missense_Mutation_p.R1641W|MYH14_ENST00000440075.2_Missense_Mutation_p.R1649W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1649W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1616W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1649W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1616W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1608					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAAGAGAGGCGGAGGCAGCT	0.612																																						uc002prr.1																			0				central_nervous_system(1)	1						c.(4822-4824)CGG>TGG		myosin, heavy chain 14 isoform 2							38.0	50.0	46.0					19																	50792885		2203	4297	6500	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50792885C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4822C>T	19.37:g.50792885C>T	ENSP00000472819:p.Arg1608Trp					MYH14_uc010enu.1_Missense_Mutation_p.R1649W|MYH14_uc002prq.1_Missense_Mutation_p.R1616W|MYH14_uc010ycb.1_5'UTR|MYH14_uc002prs.1_5'UTR	p.R1608W	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	33	4869	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1608			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4822C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629783	0.67015	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	3.95	2.82	0.32997	Myosin tail (1);	.	.	.	.	D	0.90903	0.7141	M	0.83774	2.66	0.44852	D	0.997863	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.969;0.961	D	0.90703	0.4622	9	0.87932	D	0	.	8.5447	0.33415	0.3422:0.6578:0.0:0.0	.	1649;1608;1616	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1649;1641;1616;1392;1649	ENSP00000406273:R1649W;ENSP00000366169:R1641W;ENSP00000407879:R1616W;ENSP00000262269:R1649W	ENSP00000262269:R1649W	R	+	1	2	MYH14	55484697	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.220000	0.58567	2.219000	0.72066	0.491000	0.48974	CGG		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
TSSC1	7260	broad.mit.edu	37	2	3193249	3193249	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:3193249G>A	ENST00000382125.4	-	9	1212	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TSSC1_ENST00000398659.4_Silent_p.I367I|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	340										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CGTAGGTGGCGATCACGTTGT	0.657																																					Colon(140;1261 1762 4183 34270 49743)	uc002qxj.2																			0					0						c.(1018-1020)ATC>ATT		tumor suppressing subtransferable candidate 1							47.0	39.0	42.0					2																	3193249		2188	4285	6473	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3193249G>A	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.1020C>T	2.37:g.3193249G>A						TSSC1_uc002qxi.2_RNA	p.I340I	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	9	1213	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	340					D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.1020C>T	CCDS1651.1																																																																																				0.657	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
MAP4K4	9448	broad.mit.edu	37	2	102486218	102486218	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:102486218G>A	ENST00000347699.4	+	20	2355	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G	MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000413150.2_Silent_p.G700G|MAP4K4_ENST00000456652.1_Silent_p.G584G|MAP4K4_ENST00000350878.4_Silent_p.G761G|MAP4K4_ENST00000302217.5_Silent_p.G588G|MAP4K4_ENST00000425019.1_Silent_p.G754G|MAP4K4_ENST00000324219.4_Silent_p.G866G|MAP4K4_ENST00000350198.4_Silent_p.G704G	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	785					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAGGAAGGGGCTGACGAGT	0.572																																						uc002tbg.2																			0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2353-2355)GGG>GGA		mitogen-activated protein kinase kinase kinase							38.0	44.0	42.0					2																	102486218		2082	4209	6291	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102486218G>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2355G>A	2.37:g.102486218G>A						MAP4K4_uc002tbc.2_Silent_p.G866G|MAP4K4_uc002tbd.2_Silent_p.G758G|MAP4K4_uc002tbe.2_Silent_p.G704G|MAP4K4_uc002tbf.2_Silent_p.G755G|MAP4K4_uc010yvy.1_Silent_p.G781G|MAP4K4_uc002tbh.2_Silent_p.G703G|MAP4K4_uc002tbi.2_Silent_p.G588G|MAP4K4_uc010yvz.1_Silent_p.G761G|MAP4K4_uc002tbk.2_Silent_p.G240G|MAP4K4_uc002tbl.2_5'UTR	p.G785G	NM_145687	NP_663720	O95819	M4K4_HUMAN			20	2410	+			785					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.2355G>A	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928559	0.18131	.	.	ENSG00000071054	ENST00000421882	T	0.10005	2.92	5.19	-1.54	0.08584	.	0.264237	0.38111	N	0.001819	T	0.03959	0.0111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42103	-0.9471	7	0.08179	T	0.78	.	2.0738	0.03619	0.2653:0.3405:0.2797:0.1146	.	.	.	.	S	602	ENSP00000396066:G602S	ENSP00000396066:G602S	G	+	1	0	MAP4K4	101852650	0.834000	0.29399	0.113000	0.21522	0.798000	0.45092	-0.007000	0.12810	-0.332000	0.08489	0.563000	0.77884	GGC		0.572	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
CARF	79800	broad.mit.edu	37	2	203806678	203806678	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:203806678C>T	ENST00000402905.3	+	3	374	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CARF_ENST00000456821.2_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.S18L|CARF_ENST00000434998.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.S18L|CARF_ENST00000545253.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.S18L|CARF_ENST00000320443.8_Missense_Mutation_p.S18L|CARF_ENST00000545262.1_Missense_Mutation_p.S18L|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	18					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTGAAGAGTCAAAAACCAGT	0.363																																						uc002uzo.2																			0				large_intestine(1)|ovary(1)	2						c.(52-54)TCA>TTA		amyotrophic lateral sclerosis 2 (juvenile)							135.0	134.0	134.0					2																	203806678		1864	4100	5964	SO:0001583	missense	79800							g.chr2:203806678C>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.53C>T	2.37:g.203806678C>T	ENSP00000384006:p.Ser18Leu					ALS2CR8_uc002uzn.2_Intron|ALS2CR8_uc002uzm.2_Missense_Mutation_p.S18L|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Intron|ALS2CR8_uc010zia.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S18L	p.S18L	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			3	333	+			18					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.53C>T	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001603	0.74818	.	.	ENSG00000138380	ENST00000402905;ENST00000414490;ENST00000444724;ENST00000414857;ENST00000430899;ENST00000441569;ENST00000432024;ENST00000443740;ENST00000428585;ENST00000545262;ENST00000447539;ENST00000320443;ENST00000438828	.	.	.	5.83	5.83	0.93111	.	0.388153	0.22227	N	0.062868	T	0.64821	0.2633	M	0.61703	1.905	0.37365	D	0.911389	P;P;P;P	0.50156	0.884;0.932;0.649;0.932	B;P;B;B	0.48454	0.396;0.578;0.322;0.439	T	0.71842	-0.4470	9	0.66056	D	0.02	-3.3957	16.8303	0.85942	0.0:1.0:0.0:0.0	.	18;18;18;18	G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;AL2S8_HUMAN;.	L	18	.	ENSP00000316224:S18L	S	+	2	0	ALS2CR8	203514923	1.000000	0.71417	0.042000	0.18584	0.900000	0.52787	4.260000	0.58835	2.747000	0.94245	0.650000	0.86243	TCA		0.363	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586	
RASSF2	9770	broad.mit.edu	37	20	4776462	4776462	+	Splice_Site	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr20:4776462C>T	ENST00000379400.3	-	5	481	c.286G>A	c.(286-288)Gga>Aga	p.G96R	RASSF2_ENST00000379376.2_Splice_Site_p.G96R|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	96					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTCACTCACCCCTGAGCCCCC	0.597																																					Melanoma(158;1891 3343 50738)	uc002wld.2																			0				ovary(3)|lung(2)|large_intestine(1)	6						c.(286-288)GGA>AGA		Ras association domain family 2							118.0	112.0	114.0					20																	4776462		2203	4300	6503	SO:0001630	splice_region_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776462C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.287+1G>A	20.37:g.4776462C>T						RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.G96R	p.G96R	NM_170774	NP_739580	P50749	RASF2_HUMAN			4	340	-			96					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.286G>A	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219298	0.39201	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10477	2.87;2.87	5.13	4.2	0.49525	.	0.058255	0.64402	D	0.000001	T	0.08758	0.0217	L	0.39566	1.225	0.46356	D	0.999005	B	0.19331	0.035	B	0.19148	0.024	T	0.19451	-1.0305	10	0.21540	T	0.41	.	8.3379	0.32225	0.0:0.7607:0.156:0.0832	.	96	P50749	RASF2_HUMAN	R	96	ENSP00000368710:G96R;ENSP00000368684:G96R	ENSP00000368684:G96R	G	-	1	0	RASSF2	4724462	0.995000	0.38212	1.000000	0.80357	0.951000	0.60555	2.924000	0.48876	1.396000	0.46663	0.563000	0.77884	GGA		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	Missense_Mutation
TXNRD2	10587	broad.mit.edu	37	22	19865620	19865620	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:19865620C>T	ENST00000400521.1	-	16	1444	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	TXNRD2_ENST00000400519.1_Missense_Mutation_p.G479R|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G450R|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G450R|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G479R	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	480					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TACTTGATCCCCAGAGCAAAT	0.597																																						uc011ahc.1																			0				ovary(2)	2						c.(1438-1440)GGG>AGG		thioredoxin reductase 2 precursor							44.0	50.0	48.0					22																	19865620		2094	4232	6326	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19865620C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1438G>A	22.37:g.19865620C>T	ENSP00000383365:p.Gly480Arg					TXNRD2_uc002zql.1_Missense_Mutation_p.G234R|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G479R|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.G130R	p.G480R	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			16	1471	-	Colorectal(54;0.0993)		480					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1438G>A	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145136	0.57044	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	5.07	5.07	0.68467	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.166918	0.52532	D	0.000077	D	0.95417	0.8512	M	0.69358	2.11	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.956;0.956;0.976	D	0.95802	0.8834	10	0.87932	D	0	-14.3095	17.6014	0.88026	0.0:1.0:0.0:0.0	.	480;479;457	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	R	450;480;480;457;384;479;479;450	ENSP00000383362:G450R;ENSP00000383365:G480R;ENSP00000383369:G457R;ENSP00000383363:G479R;ENSP00000439314:G479R;ENSP00000439570:G450R	ENSP00000383362:G450R	G	-	1	0	TXNRD2	18245620	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.990000	0.56965	2.530000	0.85305	0.462000	0.41574	GGG		0.597	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	
SMTN	6525	broad.mit.edu	37	22	31492853	31492853	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:31492853G>A	ENST00000347557.2	+	14	2214	c.1996G>A	c.(1996-1998)Gtt>Att	p.V666I	SMTN_ENST00000358743.1_Missense_Mutation_p.V666I|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000333137.7_Missense_Mutation_p.V666I	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	666					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGTCAGCACTGTTACCAAGAC	0.682																																						uc003ajl.1																			0				large_intestine(2)|pancreas(1)	3						c.(1996-1998)GTT>ATT		smoothelin isoform c							55.0	58.0	57.0					22																	31492853		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31492853G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1996G>A	22.37:g.31492853G>A	ENSP00000328635:p.Val666Ile					SMTN_uc003ajk.1_Missense_Mutation_p.V666I|SMTN_uc003ajm.1_Missense_Mutation_p.V666I|SMTN_uc011ale.1_Missense_Mutation_p.V751I|SMTN_uc011alf.1_Missense_Mutation_p.V722I|SMTN_uc003ajn.1_Missense_Mutation_p.V689I|SMTN_uc011alg.1_Missense_Mutation_p.V122I|SMTN_uc003ajo.1_Intron|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Intron	p.V666I	NM_006932	NP_008863	P53814	SMTN_HUMAN			14	2214	+			666					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1996G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572801	0.45798	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.68765	0.02;-0.35;-0.35	4.51	3.48	0.39840	.	0.532611	0.14154	N	0.337803	T	0.55146	0.1902	L	0.31207	0.915	0.80722	D	1	B;B;B;B;B;B	0.27765	0.093;0.093;0.188;0.017;0.115;0.051	B;B;B;B;B;B	0.28709	0.043;0.043;0.043;0.027;0.027;0.093	T	0.58578	-0.7612	10	0.56958	D	0.05	-11.4626	12.2728	0.54716	0.0836:0.0:0.9164:0.0	.	722;751;689;666;666;666	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	I	666;666;666;664;689	ENSP00000351593:V666I;ENSP00000328635:V666I;ENSP00000329532:V666I	ENSP00000329393:V664I	V	+	1	0	SMTN	29822853	0.619000	0.27059	0.643000	0.29450	0.985000	0.73830	0.826000	0.27407	2.237000	0.73441	0.456000	0.33151	GTT		0.682	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270	
APEH	327	broad.mit.edu	37	3	49723522	49723522	+	IGR	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:49723522G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R374C|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R360C(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTACAACGCCGGATCTGG	0.697																																						uc003cxg.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	lung(1)	1						c.(1120-1122)CGT>TGT		macrophage stimulating 1 (hepatocyte growth							12.0	14.0	13.0					3																	49723522		2191	4284	6475	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723522G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723522G>A						MST1_uc011bcs.1_Silent_p.G412G|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	p.R374C	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1192	-			360			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1120C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037157	0.93630	.	.	ENSG00000173531	ENST00000449682	T	0.68181	-0.31	5.4	4.52	0.55395	.	0.000000	0.42682	D	0.000669	D	0.83078	0.5176	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83214	-0.0072	10	0.32370	T	0.25	.	13.2202	0.59883	0.0778:0.0:0.9222:0.0	.	374	G3XAK1	.	C	374	ENSP00000414287:R374C	ENSP00000414287:R374C	R	-	1	0	MST1	49698526	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.008000	0.88588	2.526000	0.85167	0.655000	0.94253	CGT		0.697	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
ABI3BP	25890	broad.mit.edu	37	3	100568897	100568897	+	Missense_Mutation	SNP	G	G	A	rs199845098	byFrequency	TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:100568897G>A	ENST00000284322.5	-	15	1476	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	ABI3BP_ENST00000471714.1_Missense_Mutation_p.T505M|ABI3BP_ENST00000495063.1_Missense_Mutation_p.T505M	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	456	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCAGGTGTCGTAGGCTGCAT	0.378													G|||	11	0.00219649	0.0083	0.0	5008	,	,		19911	0.0		0.0	False		,,,				2504	0.0					uc003dun.2																			0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1366-1368)ACG>ATG		ABI gene family, member 3 (NESH) binding protein		G	MET/THR	7,3755		0,7,1874	107.0	101.0	103.0		1367	5.5	1.0	3		103	2,8218		0,2,4108	yes	missense	ABI3BP	NM_015429.3	81	0,9,5982	AA,AG,GG		0.0243,0.1861,0.0751	probably-damaging	456/1076	100568897	9,11973	1881	4110	5991	SO:0001583	missense	25890					extracellular space		g.chr3:100568897G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1367C>T	3.37:g.100568897G>A	ENSP00000284322:p.Thr456Met					ABI3BP_uc003duo.2_Missense_Mutation_p.T498M	p.T456M	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			15	1452	-			456			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1367C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.10|12.10	1.836835|1.836835	0.32421|0.32421	0.001861|0.001861	2.43E-4|2.43E-4	ENSG00000154175|ENSG00000154175	ENST00000533855|ENST00000471714;ENST00000284322;ENST00000495063	.|T;T;T	.|0.58358	.|0.34;0.34;0.34	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.202101	.|0.41396	.|D	.|0.000897	.|T	.|0.64483	.|0.2602	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;P	.|0.63703	.|0.917;0.65	.|T	.|0.64508	.|-0.6391	.|10	.|0.52906	.|T	.|0.07	-12.4961|-12.4961	10.9474|10.9474	0.47308|0.47308	0.1289:0.0:0.8711:0.0|0.1289:0.0:0.8711:0.0	.|.	.|505;456	.|Q5JPC9;Q7Z7G0	.|.;TARSH_HUMAN	X|M	134|505;456;505	.|ENSP00000420524:T505M;ENSP00000284322:T456M;ENSP00000433993:T505M	.|ENSP00000284322:T456M	R|T	-|-	1|2	2|0	ABI3BP|ABI3BP	102051587|102051587	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.017000|0.017000	0.09413|0.09413	2.457000|2.457000	0.45005|0.45005	2.758000|2.758000	0.94735|0.94735	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.378	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
MYH15	22989	broad.mit.edu	37	3	108205332	108205332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:108205332delA	ENST00000273353.3	-	11	1029	c.973delT	c.(973-975)tgcfs	p.C325fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	325	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCACAGGAGCAAAAGTGGAAG	0.438																																						uc003dxa.1																			0				ovary(5)|central_nervous_system(2)	7						c.(973-975)TGCfs		myosin, heavy polypeptide 15							81.0	81.0	81.0					3																	108205332		1878	4110	5988	SO:0001589	frameshift_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108205332delA	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.973delT	3.37:g.108205332delA	ENSP00000273353:p.Cys325fs						p.C325fs	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			11	1030	-			325			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000273353.3	37	c.973delT	CCDS43127.1																																																																																				0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
ZIC1	7545	broad.mit.edu	37	3	147128425	147128425	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:147128425G>A	ENST00000282928.4	+	1	1255	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	176					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCGCGACCGGAGCAGTACGG	0.682																																						uc003ewe.2																			0				ovary(1)|central_nervous_system(1)	2						c.(526-528)GAG>AAG		zinc finger protein of the cerebellum 1							33.0	37.0	35.0					3																	147128425		2203	4297	6500	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128425G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.526G>A	3.37:g.147128425G>A	ENSP00000282928:p.Glu176Lys						p.E176K	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1245	+			176					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.526G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633591	0.67015	.	.	ENSG00000152977	ENST00000282928	T	0.37058	1.22	3.21	3.21	0.36854	.	0.172361	0.50627	D	0.000118	T	0.37348	0.1000	L	0.60455	1.87	0.58432	D	0.999998	B	0.16802	0.019	B	0.22601	0.04	T	0.46707	-0.9172	10	0.87932	D	0	.	14.8968	0.70649	0.0:0.0:1.0:0.0	.	176	Q15915	ZIC1_HUMAN	K	176	ENSP00000282928:E176K	ENSP00000282928:E176K	E	+	1	0	ZIC1	148611115	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.237000	0.95368	1.787000	0.52448	0.549000	0.68633	GAG		0.682	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
POU4F2	5458	broad.mit.edu	37	4	147561770	147561770	+	Missense_Mutation	SNP	G	G	A	rs564340231		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr4:147561770G>A	ENST00000281321.3	+	2	1288	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	347					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GAGAAGAAGCGCAAGCGCACG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16735	0.0		0.0	False		,,,				2504	0.001					uc003ikv.2																			0				breast(1)	1						c.(1039-1041)CGC>CAC		Brn3b POU domain transcription factor							87.0	90.0	89.0					4																	147561770		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561770G>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1040G>A	4.37:g.147561770G>A	ENSP00000281321:p.Arg347His						p.R347H	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1288	+	all_hematologic(180;0.151)		347			Homeobox.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1040G>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481166	0.84747	.	.	ENSG00000151615	ENST00000281321	D	0.97138	-4.26	5.49	5.49	0.81192	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.98466	4.24	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.98994	1.0809	10	0.87932	D	0	.	19.37	0.94480	0.0:0.0:1.0:0.0	.	347	Q12837	PO4F2_HUMAN	H	347	ENSP00000281321:R347H	ENSP00000281321:R347H	R	+	2	0	POU4F2	147781220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.595000	0.87683	0.561000	0.74099	CGC		0.622	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
ZDHHC11	79844	broad.mit.edu	37	5	825284	825284	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:825284C>T	ENST00000283441.8	-	8	1401	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.A340T	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	340						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTACCCGTGCCGTCGAATCC	0.542																																						uc011cma.1																			0				skin(1)|pancreas(1)	2						c.(1018-1020)GCA>ACA		zinc finger, DHHC-type containing 11							167.0	122.0	137.0					5																	825284		2203	4296	6499	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:825284C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1018G>A	5.37:g.825284C>T	ENSP00000283441:p.Ala340Thr					ZDHHC11_uc010itc.2_5'Flank|ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	p.A340T	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		8	1402	-			340					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.1018G>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	12.33	1.905729	0.33628	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.31769	1.48;1.48	0.131	0.131	0.14755	.	.	.	.	.	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.45506	0.483	T	0.18304	-1.0341	8	0.15066	T	0.55	.	.	.	.	.	340	Q9H8X9	ZDH11_HUMAN	T	340	ENSP00000397719:A340T;ENSP00000283441:A340T	ENSP00000283441:A340T	A	-	1	0	ZDHHC11	878284	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.465000	0.06680	0.171000	0.19730	0.174000	0.16983	GCA		0.542	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	
HTR1A	3350	broad.mit.edu	37	5	63257205	63257205	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:63257205G>A	ENST00000323865.3	-	1	575	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	114	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCACGTCGAGGGCGATGAACA	0.607																																						uc011cqt.1																			0				ovary(2)|pancreas(2)	4						c.(340-342)GCC>GCT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						70.0	63.0	65.0					5																	63257205		2202	4300	6502	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257205G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.342C>T	5.37:g.63257205G>A							p.A114A	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	342	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	114			Helical; Name=3; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.342C>T	CCDS34168.1																																																																																				0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
PCDHA5	56143	broad.mit.edu	37	5	140203141	140203141	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:140203141G>A	ENST00000529859.1	+	1	1781	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R594H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R594H|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.697																																						uc003lhl.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1780-1782)CGC>CAC		protocadherin alpha 5 isoform 1 precursor							69.0	74.0	72.0					5																	140203141		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203141G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1781G>A	5.37:g.140203141G>A	ENSP00000436557:p.Arg594His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R594H|PCDHA5_uc003lhj.1_Missense_Mutation_p.R594H	p.R594H	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1781	+			594			Extracellular (Potential).|Cadherin 6.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1781G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273994	0.23221	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.66;0.66;0.66	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38214	0.1032	L	0.52011	1.625	0.22378	N	0.999156	B;B;B	0.30406	0.278;0.171;0.171	B;B;B	0.26202	0.036;0.067;0.067	T	0.21484	-1.0244	9	0.37606	T	0.19	.	6.9485	0.24532	0.0918:0.0:0.7352:0.173	.	594;594;594	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	594	ENSP00000433416:R594H;ENSP00000436557:R594H;ENSP00000367366:R594H	ENSP00000367366:R594H	R	+	2	0	PCDHA5	140183325	0.001000	0.12720	1.000000	0.80357	0.564000	0.35744	0.856000	0.27818	1.887000	0.54652	0.306000	0.20318	CGC		0.697	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
RGS14	10636	broad.mit.edu	37	5	176794018	176794018	+	Silent	SNP	C	C	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:176794018C>A	ENST00000408923.3	+	5	654	c.466C>A	c.(466-468)Cgg>Agg	p.R156R		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	156	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACATGTTTCGGGCACAGCA	0.662																																					NSCLC(47;353 1896 28036)	uc003mgf.2																			0				lung(1)	1						c.(466-468)CGG>AGG		regulator of G-protein signalling 14							30.0	40.0	36.0					5																	176794018		1935	4134	6069	SO:0001819	synonymous_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176794018C>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.466C>A	5.37:g.176794018C>A						RGS14_uc003mgg.1_Silent_p.R3R|RGS14_uc003mgh.2_Silent_p.R3R|RGS14_uc003mgi.2_5'Flank	p.R156R	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	648	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	156			RGS.		O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	c.466C>A	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	4.818	0.152155	0.09185	.	.	ENSG00000169220	ENST00000511890	T	0.05258	3.47	4.26	4.26	0.50523	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00382	-1.1775	6	0.87932	D	0	-26.1009	7.1915	0.25828	0.3081:0.5335:0.1584:0.0	.	.	.	.	L	25	ENSP00000422329:F25L	ENSP00000422329:F25L	F	+	3	2	RGS14	176726624	0.482000	0.25948	0.996000	0.52242	0.334000	0.28698	2.726000	0.47302	2.226000	0.72624	0.313000	0.20887	TTC		0.662	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480	
PTK7	5754	broad.mit.edu	37	6	43109925	43109925	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43109925G>A	ENST00000230419.4	+	13	2156	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000349241.2_Silent_p.Q515Q|PTK7_ENST00000481273.1_Silent_p.Q653Q|PTK7_ENST00000345201.2_Silent_p.Q605Q	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	645	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACATCTTCCAGAATGGCTCCC	0.642																																						uc003oub.1																			0				ovary(2)|large_intestine(1)	3						c.(1933-1935)CAG>CAA		PTK7 protein tyrosine kinase 7 isoform a							82.0	83.0	82.0					6																	43109925		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109925G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1935G>A	6.37:g.43109925G>A						PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.Q605Q|PTK7_uc003oue.1_Silent_p.Q515Q|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.Q653Q|PTK7_uc010jyj.1_Intron	p.Q645Q	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		13	2133	+			645			Ig-like C2-type 7.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1935G>A	CCDS4884.1																																																																																				0.642	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
SRF	6722	broad.mit.edu	37	6	43141721	43141721	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43141721C>T	ENST00000265354.4	+	2	1008	c.650C>T	c.(649-651)aCc>aTc	p.T217I	SRF_ENST00000457278.2_Missense_Mutation_p.T13I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	217	Involved in dimerization.				angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGATTCAGACCTGCCTCAAC	0.557																																						uc003oui.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(649-651)ACC>ATC		serum response factor (c-fos serum response							179.0	136.0	151.0					6																	43141721		2203	4300	6503	SO:0001583	missense	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43141721C>T	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.650C>T	6.37:g.43141721C>T	ENSP00000265354:p.Thr217Ile					SRF_uc011dvf.1_Missense_Mutation_p.T13I	p.T217I	NM_003131	NP_003122	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	1125	+			217			|Involved in dimerization.		Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	c.650C>T	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917944	0.92249	.	.	ENSG00000112658	ENST00000265354;ENST00000457278	D	0.85773	-2.03	5.11	5.11	0.69529	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91963	0.5580	10	0.87932	D	0	-1.0027	18.5424	0.91033	0.0:1.0:0.0:0.0	.	217	P11831	SRF_HUMAN	I	217;13	ENSP00000265354:T217I	ENSP00000265354:T217I	T	+	2	0	SRF	43249699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.113000	0.77095	2.371000	0.80710	0.561000	0.74099	ACC		0.557	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131	
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A	rs183558657		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:56566691G>A	ENST00000361203.3	-	4	323	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	DST_ENST00000421834.2_Missense_Mutation_p.R106C|DST_ENST00000370788.2_Missense_Mutation_p.R106C|DST_ENST00000312431.6_Missense_Mutation_p.R106C|DST_ENST00000370754.5_Missense_Mutation_p.R284C|DST_ENST00000370769.4_Missense_Mutation_p.R106C			Q03001	DYST_HUMAN	dystonin	106	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16317	0.0		0.0	False		,,,				2504	0.0					uc003pdf.2																			0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(850-852)CGC>TGC		dystonin isoform 2							86.0	78.0	80.0					6																	56566691		1815	4079	5894	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56566691G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.316C>T	6.37:g.56566691G>A	ENSP00000354508:p.Arg106Cys					DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C	p.R284C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		7	878	-	Lung NSC(77;0.103)		106			CH 1.|Actin-binding.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.850C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.22	3.062660	0.55432	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.94	4.94	0.65067	Calponin homology domain (5);	0.121578	0.37348	N	0.002139	D	0.96288	0.8789	L	0.60845	1.875	0.37313	D	0.909193	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998	D;P;D;P;P	0.77004	0.989;0.881;0.989;0.881;0.881	D	0.96481	0.9356	9	0.87932	D	0	.	18.7006	0.91619	0.0:0.0:1.0:0.0	.	135;106;106;284;106	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001	.;.;.;.;DYST_HUMAN	C	284;106;106;106;106;106;146;284;57;99	ENSP00000359790:R284C;ENSP00000359805:R106C;ENSP00000400883:R106C;ENSP00000307959:R106C;ENSP00000359824:R106C;ENSP00000354508:R106C;ENSP00000431030:R146C;ENSP00000393082:R284C;ENSP00000429075:R57C;ENSP00000429221:R99C	ENSP00000307959:R106C	R	-	1	0	DST	56674650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	2.721000	0.93114	0.591000	0.81541	CGC		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
PLG	5340	broad.mit.edu	37	6	161127557	161127557	+	Silent	SNP	C	C	T	rs144100362		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:161127557C>T	ENST00000308192.9	+	2	231	c.168C>T	c.(166-168)gaC>gaT	p.D56D	PLG_ENST00000366924.2_Silent_p.D56D|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	56	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTGAGGAGGACGAAGAATTCA	0.413																																						uc003qtm.3																			0				skin(3)|ovary(1)	4						c.(166-168)GAC>GAT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	C	,	0,4406		0,0,2203	139.0	141.0	140.0		168,168	-2.3	0.0	6	dbSNP_134	140	3,8597		0,3,4297	no	coding-synonymous,coding-synonymous	PLG	NM_000301.3,NM_001168338.1	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	56/811,56/137	161127557	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127557C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.168C>T	6.37:g.161127557C>T							p.D56D	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	2	231	+			56			PAN.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.168C>T	CCDS5279.1																																																																																				0.413	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
ZNF107	51427	broad.mit.edu	37	7	64168371	64168371	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:64168371G>A	ENST00000395391.1	+	4	3064	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF107_ENST00000423627.1_Silent_p.Q563Q|ZNF107_ENST00000344930.3_Silent_p.Q563Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	563					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)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTTTAACCAGTCCTCAAACC	0.348																																						uc003ttd.2																			0				ovary(1)	1						c.(1687-1689)CAG>CAA		zinc finger protein 107							44.0	50.0	48.0					7																	64168371		2201	4296	6497	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168371G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1689G>A	7.37:g.64168371G>A						ZNF107_uc003tte.2_Silent_p.Q563Q	p.Q563Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2475	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	563			C2H2-type 18; atypical.			Silent	SNP	ENST00000395391.1	37	c.1689G>A	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
PCLO	27445	broad.mit.edu	37	7	82581607	82581607	+	Missense_Mutation	SNP	C	C	T	rs529385259	byFrequency	TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:82581607C>T	ENST00000333891.9	-	5	8999	c.8662G>A	c.(8662-8664)Gta>Ata	p.V2888I	PCLO_ENST00000423517.2_Missense_Mutation_p.V2888I|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCTGGGATACGGTGCTATCA	0.463													C|||	15	0.00299521	0.0	0.0	5008	,	,		22358	0.0		0.0	False		,,,				2504	0.0153					uc003uhx.2																			0				ovary(7)	7						c.(8662-8664)GTA>ATA		piccolo isoform 1							162.0	151.0	155.0					7																	82581607		2004	4170	6174	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581607C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8662G>A	7.37:g.82581607C>T	ENSP00000334319:p.Val2888Ile					PCLO_uc003uhv.2_Missense_Mutation_p.V2888I|PCLO_uc010lec.2_5'Flank	p.V2888I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8951	-			2819						Missense_Mutation	SNP	ENST00000333891.9	37	c.8662G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592047	0.13812	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	5.68	0.194	0.15143	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.24421	N	0.994611	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31081	-0.9956	9	0.87932	D	0	.	5.7351	0.18061	0.0:0.1981:0.2399:0.5619	.	2888;2888	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2819;2888;2888	ENSP00000334319:V2888I;ENSP00000388393:V2888I	ENSP00000334319:V2888I	V	-	1	0	PCLO	82419543	0.001000	0.12720	0.007000	0.13788	0.898000	0.52572	-0.279000	0.08479	0.069000	0.16605	-0.414000	0.06135	GTA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
COL1A2	1278	broad.mit.edu	37	7	94043012	94043012	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:94043012G>T	ENST00000297268.6	+	27	2039	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	523					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTCCAGGTCCTGATGGA	0.438										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1567-1569)GGT>GTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						105.0	99.0	101.0					7																	94043012		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94043012G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1568G>T	7.37:g.94043012G>T	ENSP00000297268:p.Gly523Val	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G523V	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		27	2039	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		523					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1568G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084980	0.76642	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.98807	-5.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97684	1.0174	10	0.87932	D	0	.	19.5643	0.95386	0.0:0.0:1.0:0.0	.	523	P08123	CO1A2_HUMAN	V	523;524	ENSP00000297268:G523V	ENSP00000297268:G523V	G	+	2	0	COL1A2	93880948	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.869000	0.99810	2.700000	0.92200	0.655000	0.94253	GGT		0.438	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
INTS10	55174	broad.mit.edu	37	8	19690804	19690804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:19690804C>T	ENST00000397977.3	+	12	1900	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	501					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGCTGGCGACGTGCCACTTT	0.602																																						uc003wzj.2																			0				ovary(1)	1						c.(1501-1503)ACG>ATG		integrator complex subunit 10							36.0	41.0	40.0					8																	19690804		2112	4244	6356	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19690804C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1502C>T	8.37:g.19690804C>T	ENSP00000381064:p.Thr501Met						p.T501M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	12	1633	+			501					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1502C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785797	0.49997	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.37	5.37	0.77165	.	0.048656	0.85682	D	0.000000	T	0.51805	0.1696	N	0.12182	0.205	0.47819	D	0.999525	D	0.60575	0.988	P	0.56474	0.799	T	0.59685	-0.7408	9	0.66056	D	0.02	-22.7399	18.0448	0.89329	0.0:1.0:0.0:0.0	.	501	Q9NVR2	INT10_HUMAN	M	501	.	ENSP00000381064:T501M	T	+	2	0	INTS10	19735084	1.000000	0.71417	0.075000	0.20258	0.361000	0.29550	7.445000	0.80570	2.667000	0.90743	0.563000	0.77884	ACG		0.602	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	
ENPP2	5168	broad.mit.edu	37	8	120598445	120598445	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:120598445G>A	ENST00000075322.6	-	15	1406	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	ENPP2_ENST00000522826.1_Missense_Mutation_p.R450C|ENPP2_ENST00000427067.2_Missense_Mutation_p.R446C|ENPP2_ENST00000259486.6_Missense_Mutation_p.R502C|ENPP2_ENST00000522167.1_Missense_Mutation_p.R89C	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	450					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCCATCTGCGTTCCACCAAT	0.413																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1348-1350)CGC>TGC		autotaxin isoform 2 preproprotein							196.0	171.0	180.0					8																	120598445		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120598445G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1348C>T	8.37:g.120598445G>A	ENSP00000075322:p.Arg450Cys					ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.R89C|ENPP2_uc003yos.1_Missense_Mutation_p.R502C|ENPP2_uc010mdd.1_Missense_Mutation_p.R450C	p.R450C	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	1434	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		450					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1348C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638475	0.67130	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.64	4.68	0.58851	Alkaline-phosphatase-like, core domain (1);	0.046251	0.85682	D	0.000000	T	0.81158	0.4764	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.70016	0.93;0.967;0.96;0.951	T	0.82786	-0.0285	10	0.72032	D	0.01	-13.2498	16.4524	0.83996	0.0:0.0:0.8031:0.1969	.	450;450;502;89	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	C	502;446;89;450;450	ENSP00000259486:R502C;ENSP00000403315:R446C;ENSP00000429476:R89C;ENSP00000428291:R450C;ENSP00000075322:R450C	ENSP00000075322:R450C	R	-	1	0	ENPP2	120667626	1.000000	0.71417	0.965000	0.40720	0.950000	0.60333	3.257000	0.51500	2.660000	0.90430	0.555000	0.69702	CGC		0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
IFNB1	3456	broad.mit.edu	37	9	21077338	21077338	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr9:21077338G>A	ENST00000380232.2	-	1	605	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	177					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GTCTGTTAATGAAGTAAAAGT	0.453																																						uc003zok.2																			0				ovary(1)|breast(1)|kidney(1)	3						c.(529-531)TTC>TTT		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						122.0	117.0	118.0					9																	21077338		2203	4300	6503	SO:0001819	synonymous_variant	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077338G>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.531C>T	9.37:g.21077338G>A							p.F177F	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	606	-			177					Q5VWC9	Silent	SNP	ENST00000380232.2	37	c.531C>T	CCDS6495.1																																																																																				0.453	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176	
NHS	4810	broad.mit.edu	37	X	17745612	17745612	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:17745612C>T	ENST00000380060.3	+	6	3661	c.3323C>T	c.(3322-3324)cCg>cTg	p.P1108L	NHS_ENST00000398097.3_Missense_Mutation_p.P952L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1129					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P1108L(1)|p.P952L(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCCTCCACCGTCCCTTGCA	0.408													C|||	1	0.000264901	0.0	0.0	3775	,	,		15500	0.0		0.0	False		,,,				2504	0.001					uc004cxx.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(3322-3324)CCG>CTG		Nance-Horan syndrome protein isoform 1							134.0	128.0	130.0					X																	17745612		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745612C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3323C>T	X.37:g.17745612C>T	ENSP00000369400:p.Pro1108Leu					NHS_uc011mix.1_Missense_Mutation_p.P1129L|NHS_uc004cxy.2_Missense_Mutation_p.P952L|NHS_uc004cxz.2_Missense_Mutation_p.P931L|NHS_uc004cya.2_Missense_Mutation_p.P831L	p.P1108L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	3661	+	Hepatocellular(33;0.183)		1108					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3323C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482264	0.44147	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44881	0.91;0.91	5.94	5.94	0.96194	.	0.321380	0.37304	N	0.002145	T	0.58949	0.2158	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;P	0.76494	0.999;0.999;0.999;0.948	P;P;P;B	0.59825	0.864;0.864;0.864;0.24	T	0.59473	-0.7448	10	0.66056	D	0.02	-15.1033	19.3108	0.94187	0.0:1.0:0.0:0.0	.	1129;950;952;1108	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	L	1108;952;950	ENSP00000369400:P1108L;ENSP00000381170:P952L	ENSP00000369397:P950L	P	+	2	0	NHS	17655533	0.796000	0.28864	0.633000	0.29310	0.296000	0.27459	3.591000	0.53986	2.513000	0.84729	0.544000	0.68410	CCG		0.408	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
TIMM17B	10245	broad.mit.edu	37	X	48751096	48751096	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:48751096G>A	ENST00000376582.3	-	7	583	c.435C>T	c.(433-435)ccC>ccT	p.P145P	TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000465150.2_Silent_p.P195P|TIMM17B_ENST00000495490.2_Silent_p.P165P|TIMM17B_ENST00000396779.3_Silent_p.P195P	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	145					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCAGGAATGGGGGCGCTGGAG	0.617																																						uc004dlc.1																			0				ovary(1)	1						c.(433-435)CCC>CCT		translocase of inner mitochondrial membrane 17							25.0	27.0	26.0					X																	48751096		2201	4300	6501	SO:0001819	synonymous_variant	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48751096G>A	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.435C>T	X.37:g.48751096G>A						TIMM17B_uc004dla.1_Silent_p.P195P|TIMM17B_uc004dlb.1_Silent_p.P165P	p.P145P	NM_005834	NP_005825	O60830	TI17B_HUMAN			7	584	-			145					A8K2E2|J3KPV3|Q9UJV0	Silent	SNP	ENST00000376582.3	37	c.435C>T	CCDS14308.1																																																																																				0.617	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834	
PCDH11X	27328	broad.mit.edu	37	X	91132985	91132985	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:91132985C>A	ENST00000373094.1	+	2	2591	c.1746C>A	c.(1744-1746)aaC>aaA	p.N582K	PCDH11X_ENST00000373097.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N582K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N582K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N582K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N582K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N582K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCCAGAAAACCTTCCAAGGC	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			0				large_intestine(2)	2						c.(1744-1746)AAC>AAA		protocadherin 11 X-linked isoform c							102.0	90.0	94.0					X																	91132985		2203	4299	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132985C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1746C>A	X.37:g.91132985C>A	ENSP00000362186:p.Asn582Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.N582K|PCDH11X_uc004efo.1_Missense_Mutation_p.N582K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N582K|PCDH11X_uc004efm.1_Missense_Mutation_p.N582K|PCDH11X_uc004efn.1_Missense_Mutation_p.N582K|PCDH11X_uc004efh.1_Missense_Mutation_p.N582K|PCDH11X_uc004efj.1_Missense_Mutation_p.N582K	p.N582K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2591	+			582			Extracellular (Potential).|Cadherin 6.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1746C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021837	0.35701	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.36	4.49	0.54785	Cadherin (3);Cadherin-like (1);	0.046719	0.85682	D	0.000000	T	0.75649	0.3878	M	0.93507	3.425	0.40202	D	0.977525	P;P;P;P;P;P;P;P	0.50156	0.891;0.932;0.891;0.891;0.891;0.911;0.891;0.891	P;P;P;P;P;P;P;P	0.59357	0.69;0.856;0.69;0.69;0.69;0.794;0.69;0.69	T	0.81616	-0.0852	10	0.87932	D	0	.	12.028	0.53382	0.0:0.9146:0.0:0.0854	.	582;582;582;582;582;582;582;582	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	582	ENSP00000378746:N582K;ENSP00000362186:N582K;ENSP00000362189:N582K;ENSP00000355040:N582K;ENSP00000362180:N582K;ENSP00000423762:N582K;ENSP00000355105:N582K;ENSP00000384758:N582K;ENSP00000298274:N582K	ENSP00000298274:N582K	N	+	3	2	PCDH11X	91019641	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	1.160000	0.31761	1.012000	0.39366	0.422000	0.28245	AAC		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
DOCK11	139818	broad.mit.edu	37	X	117722099	117722099	+	Splice_Site	SNP	G	G	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:117722099G>T	ENST00000276202.7	+	17	1858		c.e17-1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCCTGCTATAGATTGTATTAC	0.318																																						uc004eqp.2																			0				ovary(3)	3						c.e17-1		dedicator of cytokinesis 11							91.0	88.0	89.0					X																	117722099		2201	4291	6492	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117722099G>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1796-1G>T	X.37:g.117722099G>T						DOCK11_uc004eqq.2_Splice_Site_p.N365_splice	p.N599_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			17	1859	+								A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37	c.1796_splice	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918996	0.73098	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3906	0.90481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117606127	1.000000	0.71417	0.997000	0.53966	0.860000	0.49131	9.395000	0.97266	2.569000	0.86673	0.594000	0.82650	.		0.318	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Intron
RNF113A	7737	broad.mit.edu	37	X	119004909	119004909	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:119004909C>T	ENST00000371442.2	-	1	882	c.668G>A	c.(667-669)cGt>cAt	p.R223H	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	223							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GTAATCTGAACGGTCATGGAG	0.522																																						uc004esb.2																			0				breast(2)	2						c.(667-669)CGT>CAT		ring finger protein 113A							104.0	96.0	99.0					X																	119004909		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119004909C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.668G>A	X.37:g.119004909C>T	ENSP00000360497:p.Arg223His					NDUFA1_uc004esc.3_5'Flank	p.R223H	NM_006978	NP_008909	O15541	R113A_HUMAN			1	883	-			223			C3H1-type.		B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.668G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392289	0.83011	.	.	ENSG00000125352	ENST00000371442	T	0.44083	0.93	5.56	4.7	0.59300	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.92459	3.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76748	-0.2845	10	0.87932	D	0	-4.7758	11.5046	0.50459	0.0:0.9112:0.0:0.0888	.	223	O15541	R113A_HUMAN	H	223	ENSP00000360497:R223H	ENSP00000360497:R223H	R	-	2	0	RNF113A	118888937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.821000	0.55700	1.134000	0.42165	0.600000	0.82982	CGT		0.522	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978	
ARHGAP36	158763	broad.mit.edu	37	X	130220576	130220576	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:130220576C>T	ENST00000276211.5	+	11	1768	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P463S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P339S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	475					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACTTTCTGATCCAGTGGAAAC	0.478																																						uc004evz.2																			0				ovary(3)	3						c.(1423-1425)CCA>TCA		hypothetical protein LOC158763 precursor							112.0	97.0	102.0					X																	130220576		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220576C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1423C>T	X.37:g.130220576C>T	ENSP00000276211:p.Pro475Ser					ARHGAP36_uc004ewa.2_Missense_Mutation_p.P463S|ARHGAP36_uc004ewb.2_Missense_Mutation_p.P444S|ARHGAP36_uc004ewc.2_Missense_Mutation_p.P339S	p.P475S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			11	1768	+			475					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1423C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751171	0.49257	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10099	2.91;2.91;2.93;2.92	4.32	4.32	0.51571	.	0.000000	0.47455	D	0.000227	T	0.13500	0.0327	N	0.08118	0	0.32608	N	0.524968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.17198	-1.0377	10	0.16896	T	0.51	.	13.6058	0.62046	0.0:1.0:0.0:0.0	.	444;463;475	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	475;463;444;339	ENSP00000276211:P475S;ENSP00000359960:P463S;ENSP00000408515:P444S;ENSP00000359959:P339S	ENSP00000276211:P475S	P	+	1	0	ARHGAP36	130048257	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.941000	0.56607	2.378000	0.81104	0.594000	0.82650	CCA		0.478	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
CTAG2	30848	broad.mit.edu	37	X	153881755	153881755	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:153881755G>A	ENST00000247306.4	-	1	98	c.35C>T	c.(34-36)aCg>aTg	p.T12M	CTAG2_ENST00000369585.3_Missense_Mutation_p.T12M	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	12	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					AGCATCGCCCGTCGAACCCCC	0.706																																						uc004fmi.1																			0				pancreas(1)	1						c.(34-36)ACG>ATG		cancer/testis antigen 2 isoform LAGE-1b							4.0	10.0	9.0					X																	153881755		1077	3605	4682	SO:0001583	missense	30848					centrosome		g.chrX:153881755G>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.35C>T	X.37:g.153881755G>A	ENSP00000247306:p.Thr12Met					CTAG2_uc004fmh.1_Missense_Mutation_p.T12M	p.T12M	NM_020994	NP_066274	O75638	CTAG2_HUMAN			1	88	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		12			Gly-rich.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.35C>T	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	g	7.680	0.688908	0.14973	.	.	ENSG00000126890	ENST00000247306;ENST00000369585	T;T	0.30182	1.54;1.62	1.51	-0.466	0.12153	.	.	.	.	.	T	0.12860	0.0312	N	0.19112	0.55	0.09310	N	1	B;P	0.43314	0.234;0.803	B;B	0.28784	0.026;0.094	T	0.14783	-1.0460	9	0.87932	D	0	.	4.1954	0.10441	0.1727:0.2359:0.5914:0.0	.	12;12	O75638;O75638-2	CTAG2_HUMAN;.	M	12	ENSP00000247306:T12M;ENSP00000358598:T12M	ENSP00000247306:T12M	T	-	2	0	CTAG2	153534949	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.099000	0.31013	-0.235000	0.09767	0.459000	0.35465	ACG		0.706	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994	
