#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TTLL10	254173	broad.mit.edu	37	1	1117129	1117129	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:1117129A>T	ENST00000379290.1	+	9	937	c.764A>T	c.(763-765)aAg>aTg	p.K255M	TTLL10_ENST00000379289.1_Missense_Mutation_p.K255M|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_Missense_Mutation_p.K182M			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	255	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTGGAAAAGGACGCAGCA	0.672																																						uc001acy.2		NA																	0				large_intestine(1)	1						c.(763-765)AAG>ATG		tubulin tyrosine ligase-like family, member 10							28.0	26.0	27.0					1																	1117129		2191	4291	6482	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1117129A>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.764A>T	1.37:g.1117129A>T	ENSP00000368592:p.Lys255Met					uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.K255M|TTLL10_uc001acz.1_Missense_Mutation_p.K182M	p.K255M	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	9	915	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	255			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.764A>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699523	0.30142	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.16324	3.23;3.23;2.35	2.5	1.37	0.22104	.	0.705504	0.12843	U	0.434628	T	0.21427	0.0516	L	0.34521	1.04	0.09310	N	1	P;D	0.76494	0.95;0.999	P;P	0.61397	0.712;0.888	T	0.09487	-1.0672	10	0.46703	T	0.11	.	4.2621	0.10745	0.8317:0.0:0.1683:0.0	.	182;255	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	M	255;255;182	ENSP00000368592:K255M;ENSP00000368591:K255M;ENSP00000368590:K182M	ENSP00000368590:K182M	K	+	2	0	TTLL10	1106992	0.123000	0.22298	0.042000	0.18584	0.005000	0.04900	0.270000	0.18607	0.404000	0.25506	0.374000	0.22700	AAG		0.672	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		3	12	0	0	0	0	3	12				
JAK1	3716	broad.mit.edu	37	1	65303626	65303627	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65303626_65303627GC>AA	ENST00000342505.4	-	22	3376_3377	c.3128_3129GC>TT	c.(3127-3129)aGC>aTT	p.S1043I		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1043	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAAACACAGGGCTGTCCCGGTC	0.401			Mis		ALL																																	uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(3127-3129)AGC>ATT		janus kinase 1																																				SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65303626_65303627GC>AA	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3128_3129delinsAA	1.37:g.65303626_65303627delinsAA	ENSP00000343204:p.Ser1043Ile					JAK1_uc009wam.1_Missense_Mutation_p.S1031I|JAK1_uc009wal.1_Missense_Mutation_p.S220I	p.S1043I	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	22	3377_3378	-			1043			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	DNP	ENST00000342505.4	37	c.3128_3129GC>TT	CCDS41346.1																																																																																				0.401	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	52	0	0	0	0	3	52				
JAK1	3716	broad.mit.edu	37	1	65306941	65306941	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:65306941C>T	ENST00000342505.4	-	19	2884	c.2636G>A	c.(2635-2637)cGt>cAt	p.R879H	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	879	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCCCAAGTCACGGATCCTCTT	0.493			Mis		ALL																																	uc001dbu.1		NA		Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0		p.R879S(1)|p.R879C(1)|p.R879H(1)		haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(2635-2637)CGT>CAT		janus kinase 1							87.0	90.0	89.0					1																	65306941		1983	4157	6140	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65306941C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2636G>A	1.37:g.65306941C>T	ENSP00000343204:p.Arg879His					JAK1_uc009wam.1_Missense_Mutation_p.R867H|JAK1_uc009wal.1_Missense_Mutation_p.R56H	p.R879H	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	19	2885	-			879			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2636G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060236	0.93846	.	.	ENSG00000162434	ENST00000342505	D	0.89810	-2.57	4.74	4.74	0.60224	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.89068	0.6610	L	0.56199	1.76	0.58432	D	0.999998	D	0.89917	1.0	P	0.53266	0.722	D	0.89027	0.3439	9	0.51188	T	0.08	-3.4637	18.2813	0.90099	0.0:1.0:0.0:0.0	.	879	P23458	JAK1_HUMAN	H	879	ENSP00000343204:R879H	ENSP00000343204:R879H	R	-	2	0	JAK1	65079529	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.209000	0.77916	2.612000	0.88384	0.557000	0.71058	CGT		0.493	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		9	70	0	0	0	0	9	70				
MSH4	4438	broad.mit.edu	37	1	76365359	76365359	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:76365359G>A	ENST00000263187.3	+	19	2691	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	863					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.E863K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGATGCCAAGGAAATCACAAC	0.294								Mismatch excision repair (MMR)																														uc001dhd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(2587-2589)GAA>AAA	MMR	mutS homolog 4							87.0	89.0	88.0					1																	76365359		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76365359G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2587G>A	1.37:g.76365359G>A	ENSP00000263187:p.Glu863Lys						p.E863K	NM_002440	NP_002431	O15457	MSH4_HUMAN			19	2628	+			863					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2587G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426209	0.43020	.	.	ENSG00000057468	ENST00000263187	D	0.85484	-1.99	5.61	5.61	0.85477	DNA mismatch repair protein MutS, C-terminal (2);	0.477248	0.23943	N	0.043038	T	0.71367	0.3331	L	0.33293	1	0.24539	N	0.99408	B	0.18968	0.032	B	0.24394	0.053	T	0.63216	-0.6687	10	0.44086	T	0.13	3.4318	17.8182	0.88642	0.0:0.0:1.0:0.0	.	863	O15457	MSH4_HUMAN	K	863	ENSP00000263187:E863K	ENSP00000263187:E863K	E	+	1	0	MSH4	76137947	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.793000	0.47845	2.643000	0.89663	0.467000	0.42956	GAA		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		8	66	0	0	0	0	8	66				
MTMR11	10903	broad.mit.edu	37	1	149905361	149905361	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:149905361T>C	ENST00000439741.2	-	10	1173	c.923A>G	c.(922-924)gAg>gGg	p.E308G	MTMR11_ENST00000369140.3_Missense_Mutation_p.E236G|MTMR11_ENST00000406732.3_Missense_Mutation_p.E280G|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	308	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGGCAGCTCATCCATAGT	0.567																																						uc001etl.3		NA																	0				central_nervous_system(1)	1						c.(922-924)GAG>GGG		myotubularin related protein 11 isoform a							95.0	87.0	90.0					1																	149905361		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905361T>C	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.923A>G	1.37:g.149905361T>C	ENSP00000391668:p.Glu308Gly					MTMR11_uc001etm.1_Missense_Mutation_p.E236G|MTMR11_uc010pbm.1_Missense_Mutation_p.E280G|MTMR11_uc010pbn.1_Missense_Mutation_p.E150G	p.E308G	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1174	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		308			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.923A>G	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.725964	0.48833	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.89552	-2.53;-2.53;-2.53	5.23	5.23	0.72850	Myotubularin phosphatase domain (1);	0.142200	0.47852	D	0.000209	D	0.86797	0.6019	N	0.24115	0.695	0.53688	D	0.999979	D;D;B;P	0.89917	1.0;1.0;0.007;0.549	D;D;B;B	0.87578	0.998;0.997;0.022;0.089	D	0.86921	0.2067	10	0.33940	T	0.23	.	13.1175	0.59307	0.0:0.0:0.0:1.0	.	150;280;236;308	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	G	236;308;280;150	ENSP00000358136:E236G;ENSP00000391668:E308G;ENSP00000383948:E280G	ENSP00000358136:E236G	E	-	2	0	MTMR11	148171985	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.444000	0.73452	2.209000	0.71365	0.533000	0.62120	GAG		0.567	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		3	79	0	0	0	0	3	79				
ANP32E	81611	broad.mit.edu	37	1	150202922	150202922	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:150202922C>G	ENST00000314136.8	-	3	680	c.311G>C	c.(310-312)aGt>aCt	p.S104T	ANP32E_ENST00000369114.5_Missense_Mutation_p.S104T|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.S56T|ANP32E_ENST00000533654.1_Missense_Mutation_p.S104T|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	104					histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTACTGTACTGAGATCTTT	0.343																																						uc001etw.2		NA																	0					0						c.(310-312)AGT>ACT		acidic (leucine-rich) nuclear phosphoprotein 32							103.0	96.0	98.0					1																	150202922		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150202922C>G	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.311G>C	1.37:g.150202922C>G	ENSP00000324074:p.Ser104Thr					ANP32E_uc010pbu.1_Missense_Mutation_p.S56T|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.S104T|ANP32E_uc010pbw.1_Missense_Mutation_p.S104T	p.S104T	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	681	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		104			LRR 4.		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.311G>C	CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944532	0.53079	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369114;ENST00000533654;ENST00000532744	T;T;T;T;T	0.12361	2.84;2.84;2.69;2.69;2.84	6.02	5.11	0.69529	.	0.155802	0.64402	D	0.000001	T	0.08980	0.0222	L	0.42686	1.345	0.80722	D	1	B;B;B	0.23806	0.032;0.091;0.061	B;B;B	0.34991	0.014;0.193;0.049	T	0.05500	-1.0881	10	0.54805	T	0.06	.	14.5806	0.68288	0.0:0.9303:0.0:0.0697	.	104;104;56	E9PLC4;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	T	104;56;104;104;54	ENSP00000324074:S104T;ENSP00000358115:S56T;ENSP00000358110:S104T;ENSP00000435215:S104T;ENSP00000432684:S54T	ENSP00000324074:S104T	S	-	2	0	ANP32E	148469546	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.784000	0.62411	1.560000	0.49568	0.549000	0.68633	AGT		0.343	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		7	57	0	0	0	0	7	57				
LRP5	4041	broad.mit.edu	37	11	68133078	68133078	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr11:68133078A>C	ENST00000294304.7	+	5	1029	c.923A>C	c.(922-924)cAc>cCc	p.H308P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	308	EGF-like 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTGCTCCCACCTGTGCCTG	0.592																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(922-924)CAC>CCC		low density lipoprotein receptor-related protein							76.0	79.0	78.0					11																	68133078		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68133078A>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.923A>C	11.37:g.68133078A>C	ENSP00000294304:p.His308Pro					LRP5_uc009ysg.2_5'UTR	p.H308P	NM_002335	NP_002326	O75197	LRP5_HUMAN			5	998	+			308			EGF-like 1.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.923A>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940537	0.52972	.	.	ENSG00000162337	ENST00000294304	D	0.97480	-4.4	3.51	3.51	0.40186	Epidermal growth factor-like (1);	0.000000	0.47852	U	0.000212	D	0.97779	0.9271	H	0.97783	4.075	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	D	0.98325	1.0530	10	0.87932	D	0	.	13.0674	0.59041	1.0:0.0:0.0:0.0	.	308	O75197	LRP5_HUMAN	P	308	ENSP00000294304:H308P	ENSP00000294304:H308P	H	+	2	0	LRP5	67889654	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.906000	0.92626	1.852000	0.53769	0.374000	0.22700	CAC		0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		8	104	0	0	0	0	8	104				
CD163	9332	broad.mit.edu	37	12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:7636017G>A	ENST00000359156.4	-	12	3236	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_ENST00000396620.3_Missense_Mutation_p.R1045C|CD163_ENST00000541972.1_Missense_Mutation_p.R1000C|CD163_ENST00000432237.2_Missense_Mutation_p.R1012C|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1012	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGCCCCAGCGTCTGGCAGGA	0.512																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(3034-3036)CGC>TGC		CD163 antigen isoform a							118.0	102.0	108.0					12																	7636017		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636017G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3034C>T	12.37:g.7636017G>A	ENSP00000352071:p.Arg1012Cys					CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	p.R1012C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	3162	-			1012			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3034C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141415	0.57044	.	.	ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.4	0.998	0.19857	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.647597	0.15236	N	0.273152	T	0.47116	0.1428	L	0.61218	1.895	0.09310	N	1	D;D;D	0.65815	0.995;0.969;0.995	P;B;P	0.54706	0.759;0.436;0.759	T	0.33803	-0.9854	10	0.56958	D	0.05	.	4.9216	0.13872	0.0932:0.1331:0.5919:0.1818	.	1045;1012;1012	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	1012;52;1000;1045;1012	ENSP00000352071:R1012C;ENSP00000445438:R52C;ENSP00000444071:R1000C;ENSP00000379863:R1045C;ENSP00000403885:R1012C	ENSP00000352071:R1012C	R	-	1	0	CD163	7527284	0.000000	0.05858	0.003000	0.11579	0.973000	0.67179	-0.124000	0.10595	-0.047000	0.13423	0.555000	0.69702	CGC		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		7	50	0	0	0	0	7	50				
KRT78	196374	broad.mit.edu	37	12	53233611	53233611	+	Missense_Mutation	SNP	G	G	A	rs376923816	byFrequency	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr12:53233611G>A	ENST00000304620.4	-	7	1268	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	KRT78_ENST00000359499.4_Missense_Mutation_p.T292M	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	402	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAAGCTTCGTGCTCGTCAG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		18778	0.002		0.0	False		,,,				2504	0.0					uc001sbc.1		NA																	0				ovary(2)	2						c.(1204-1206)ACG>ATG		keratin 5b							78.0	66.0	70.0					12																	53233611		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233611G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1205C>T	12.37:g.53233611G>A	ENSP00000306261:p.Thr402Met						p.T402M	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			7	1269	-			402			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.1205C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277702	0.23307	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.88741	-2.42;-2.42	3.89	-1.57	0.08506	Filament (1);	.	.	.	.	D	0.83885	0.5351	L	0.49350	1.555	0.09310	N	1	B	0.24618	0.107	B	0.21151	0.033	T	0.71771	-0.4492	9	0.62326	D	0.03	.	10.0595	0.42266	0.6819:0.0:0.3181:0.0	.	402	Q8N1N4	K2C78_HUMAN	M	292;402;173	ENSP00000352479:T292M;ENSP00000306261:T402M	ENSP00000306261:T402M	T	-	2	0	KRT78	51519878	0.000000	0.05858	0.003000	0.11579	0.872000	0.50106	0.403000	0.20982	-0.470000	0.06901	-0.362000	0.07510	ACG		0.612	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		9	59	0	0	0	0	9	59				
CSNK1A1L	122011	broad.mit.edu	37	13	37679304	37679304	+	Silent	SNP	G	G	A	rs369173905		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:37679304G>A	ENST00000379800.3	-	1	499	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGATAAACGTCTCCAAAGG	0.537																																						uc001uwm.1		NA																	0				large_intestine(1)	1						c.(88-90)GAC>GAT		casein kinase 1, alpha 1-like		G		0,4406		0,0,2203	136.0	125.0	129.0		90	-1.6	0.5	13		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSNK1A1L	NM_145203.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		30/338	37679304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679304G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.90C>T	13.37:g.37679304G>A							p.D30D	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	498	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	30			ATP (By similarity).|Protein kinase.		Q5T2N2	Silent	SNP	ENST00000379800.3	37	c.90C>T	CCDS9363.1																																																																																				0.537	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		7	122	0	0	0	0	7	122				
FARP1	10160	broad.mit.edu	37	13	99042297	99042297	+	Silent	SNP	C	C	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:99042297C>A	ENST00000319562.6	+	10	1207	c.942C>A	c.(940-942)gcC>gcA	p.A314A	FARP1_ENST00000376586.2_Silent_p.A314A|FARP1_ENST00000595437.1_Silent_p.A314A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	314	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)			AACATCATGCCTTCTTTAGAC	0.488																																						uc001vnj.2		NA																	0				breast(2)	2						c.(940-942)GCC>GCA		FERM, RhoGEF, and pleckstrin domain protein 1							144.0	147.0	146.0					13																	99042297		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.chr13:99042297C>A	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.942C>A	13.37:g.99042297C>A						FARP1_uc001vnh.2_Silent_p.A314A	p.A314A	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		10	1278	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		314			FERM.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.942C>A	CCDS9487.1																																																																																				0.488	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		7	155	1	0	2.01e-06	2.31e-06	7	155				
RASA3	22821	broad.mit.edu	37	13	114751137	114751137	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr13:114751137T>C	ENST00000334062.7	-	23	2499	c.2378A>G	c.(2377-2379)gAg>gGg	p.E793G	RASA3_ENST00000389544.4_Missense_Mutation_p.E761G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	793					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTGGGCGTGCTCCTGCTCCAA	0.582																																						uc001vui.2		NA																	0				lung(3)|skin(1)	4						c.(2377-2379)GAG>GGG		RAS p21 protein activator 3							257.0	227.0	237.0					13																	114751137		2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114751137T>C		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2378A>G	13.37:g.114751137T>C	ENSP00000335029:p.Glu793Gly					RASA3_uc010tkk.1_Missense_Mutation_p.E761G|RASA3_uc001vuj.2_Missense_Mutation_p.E410G	p.E793G	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		23	2509	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	793					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2378A>G	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412555	0.42817	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.86627	-2.04;-2.15	4.89	4.89	0.63831	.	0.189219	0.49916	D	0.000129	D	0.84014	0.5379	L	0.53249	1.67	0.80722	D	1	B	0.23185	0.081	B	0.23275	0.045	T	0.80400	-0.1398	10	0.30078	T	0.28	.	14.5325	0.67936	0.0:0.0:0.0:1.0	.	793	Q14644	RASA3_HUMAN	G	793;761	ENSP00000335029:E793G;ENSP00000374195:E761G	ENSP00000335029:E793G	E	-	2	0	RASA3	113769239	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	5.359000	0.66074	1.835000	0.53391	0.402000	0.26972	GAG		0.582	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		15	183	0	0	0	0	15	183				
MAP3K9	4293	broad.mit.edu	37	14	71205084	71205084	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr14:71205084G>A	ENST00000554752.2	-	8	1721	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	MAP3K9_ENST00000553414.1_Silent_p.G316G|MAP3K9_ENST00000555993.2_Silent_p.G574G|MAP3K9_ENST00000381250.4_Silent_p.G574G|MAP3K9_ENST00000554146.1_Silent_p.G311G	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	574					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAGCTCCTGCCccaggttt	0.567																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	0				stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1720-1722)GGC>GGT		mitogen-activated protein kinase kinase kinase							84.0	85.0	85.0					14																	71205084		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71205084G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1722C>T	14.37:g.71205084G>A						MAP3K9_uc010ttk.1_Silent_p.G311G|MAP3K9_uc001xmk.2_Silent_p.G316G|MAP3K9_uc001xml.2_Silent_p.G574G	p.G574G	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	8	1722	-			574					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.1722C>T																																																																																					0.567	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			11	77	0	0	0	0	11	77				
IFT43	112752	broad.mit.edu	37	14	76525675	76525675	+	Missense_Mutation	SNP	G	G	A	rs2302858	byFrequency	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr14:76525675G>A	ENST00000314067.6	+	5	288	c.254G>A	c.(253-255)cGc>cAc	p.R85H	IFT43_ENST00000238628.6_Intron	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	85			R -> H (in dbSNP:rs2302858).		cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAGTTTCCGCCTCAGACCA	0.448													G|||	13	0.00259585	0.0	0.0	5008	,	,		20777	0.0129		0.0	False		,,,				2504	0.0					uc010asm.1		NA																	0					0						c.(253-255)CGC>CAC		hypothetical protein LOC112752 isoform 2		G	HIS/ARG,	1,3701		0,1,1850	106.0	105.0	105.0		254,	4.4	1.0	14	dbSNP_100	105	0,8178		0,0,4089	yes	missense,intron	IFT43	NM_001102564.1,NM_052873.2	29,	0,1,5939	AA,AG,GG		0.0,0.027,0.0084	probably-damaging,	85/209,	76525675	1,11879	1851	4089	5940	SO:0001583	missense	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76525675G>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.254G>A	14.37:g.76525675G>A	ENSP00000324177:p.Arg85His					C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Missense_Mutation_p.R85H|C14orf179_uc001xsg.2_Intron|C14orf179_uc010tve.1_RNA	p.R85H	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	5	288	+			85					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.254G>A	CCDS41973.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	17.64	3.440391	0.63067	2.7E-4	0.0	ENSG00000119650	ENST00000314067	T	0.49720	0.77	4.45	4.45	0.53987	.	.	.	.	.	T	0.55893	0.1949	L	0.54965	1.715	0.42474	D	0.992832	D;D	0.89917	0.999;1.0	P;D	0.87578	0.839;0.998	T	0.65631	-0.6121	9	0.87932	D	0	.	15.0579	0.71930	0.0:0.0:1.0:0.0	rs2302858;rs2302858	85;85	Q96FT9;Q96FT9-3	IFT43_HUMAN;.	H	85	ENSP00000324177:R85H	ENSP00000324177:R85H	R	+	2	0	IFT43	75595428	1.000000	0.71417	0.995000	0.50966	0.178000	0.23041	5.745000	0.68672	2.292000	0.77174	0.643000	0.83706	CGC		0.448	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		7	85	0	0	0	0	7	85				
ATP8B4	79895	broad.mit.edu	37	15	50215663	50215663	+	Silent	SNP	A	A	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:50215663A>C	ENST00000284509.6	-	17	1812	c.1671T>G	c.(1669-1671)ctT>ctG	p.L557L	ATP8B4_ENST00000559829.1_Silent_p.L557L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	557						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTTTGGAATAAAGCTTTATCT	0.383																																						uc001zxu.2		NA																	0				skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1669-1671)CTT>CTG		ATPase class I type 8B member 4							67.0	63.0	64.0					15																	50215663		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50215663A>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1671T>G	15.37:g.50215663A>C						ATP8B4_uc010ber.2_Silent_p.L430L|ATP8B4_uc010ufd.1_Silent_p.L367L|ATP8B4_uc010ufe.1_RNA	p.L557L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	17	1813	-		all_lung(180;0.00183)	557			Cytoplasmic (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.1671T>G	CCDS32238.1																																																																																				0.383	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	40	0	0	0	0	4	40				
RFX7	64864	broad.mit.edu	37	15	56393703	56393703	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr15:56393703G>T	ENST00000559447.2	-	7	645	c.374C>A	c.(373-375)gCt>gAt	p.A125D	RFX7_ENST00000422057.1_Missense_Mutation_p.A125D|RFX7_ENST00000423270.1_Missense_Mutation_p.A222D|RFX7_ENST00000317318.6_Missense_Mutation_p.A222D			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	125					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGACGGCAAGCAGAAGAGAT	0.423																																						uc010bfn.2		NA																	0					0						c.(664-666)GCT>GAT		regulatory factor X domain containing 2							88.0	85.0	86.0					15																	56393703		1885	4103	5988	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56393703G>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.374C>A	15.37:g.56393703G>T	ENSP00000453281:p.Ala125Asp					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.A36D	p.A222D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			7	665	-			125					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.665C>A		.	.	.	.	.	.	.	.	.	.	G	34	5.323194	0.95708	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.60797	0.17;0.16;0.17	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.77350	0.4117	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.79145	-0.1924	10	0.87932	D	0	-18.3114	18.7605	0.91849	0.0:0.0:1.0:0.0	.	125;125	Q2KHR2;C9JU50	RFX7_HUMAN;.	D	125;222;222	ENSP00000387504:A125D;ENSP00000313299:A222D;ENSP00000397644:A222D	ENSP00000313299:A222D	A	-	2	0	RFX7	54180995	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.670000	0.90874	0.650000	0.86243	GCT		0.423	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		8	47	1	0	4.19e-16	4.91e-16	8	47				
RAB11FIP3	9727	broad.mit.edu	37	16	546835	546835	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:546835G>A	ENST00000262305.4	+	6	1665	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R471Q|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R130Q	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	426					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCGACAAAGCGGCTCTCCAGC	0.423																																					Melanoma(160;2366 2595 4474 8099)	uc002chf.2		NA																	0					0						c.(1276-1278)CGG>CAG		rab11-family interacting protein 3 isoform 1							83.0	90.0	88.0					16																	546835		2202	4300	6502	SO:0001583	missense	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:546835G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.1277G>A	16.37:g.546835G>A	ENSP00000262305:p.Arg426Gln					RAB11FIP3_uc010uuf.1_Missense_Mutation_p.R130Q|RAB11FIP3_uc010uug.1_Missense_Mutation_p.R161Q	p.R426Q	NM_014700	NP_055515	O75154	RFIP3_HUMAN			6	1616	+		Hepatocellular(16;0.0218)	426					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	c.1277G>A	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482500	0.63962	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000452814;ENST00000449879;ENST00000448401;ENST00000412256	.	.	.	5.45	3.5	0.40072	.	.	.	.	.	T	0.44222	0.1283	L	0.51422	1.61	0.41529	D	0.988445	D;B;P	0.58268	0.982;0.392;0.921	B;B;B	0.40982	0.345;0.027;0.096	T	0.40627	-0.9553	8	0.48119	T	0.1	-33.3131	10.0834	0.42404	0.1564:0.0:0.8436:0.0	.	471;130;426	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	Q	426;471;347;130;116;130;130;126	.	ENSP00000262305:R426Q	R	+	2	0	RAB11FIP3	486836	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.799000	0.62517	0.791000	0.33826	0.655000	0.94253	CGG		0.423	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		13	92	0	0	0	0	13	92				
MAPK8IP3	23162	broad.mit.edu	37	16	1815178	1815178	+	Splice_Site	SNP	C	C	T	rs200864564		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:1815178C>T	ENST00000250894.4	+	20	2599	c.2442C>T	c.(2440-2442)ccC>ccT	p.P814P	MAPK8IP3_ENST00000356010.5_Splice_Site_p.P808P	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	814					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGCATCCCCGGTGAGCAGC	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20641	0.0		0.0	False		,,,				2504	0.0					uc002cmk.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(2440-2442)CCC>CCT		mitogen-activated protein kinase 8 interacting							24.0	26.0	25.0					16																	1815178		2103	4221	6324	SO:0001630	splice_region_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1815178C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2443+1C>T	16.37:g.1815178C>T						MAPK8IP3_uc002cml.2_Silent_p.P808P|MAPK8IP3_uc010uvl.1_Silent_p.P815P	p.P814P	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			20	2562	+			814					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.2442C>T	CCDS10442.2																																																																																				0.617	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	Silent	3	18	0	0	0	0	3	18				
MYH11	4629	broad.mit.edu	37	16	15841500	15841500	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:15841500C>T	ENST00000300036.5	-	19	2447	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	MYH11_ENST00000396324.3_Missense_Mutation_p.E787K|MYH11_ENST00000576790.2_Missense_Mutation_p.E780K|MYH11_ENST00000452625.2_Missense_Mutation_p.E787K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	780	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTCGCTCCTCCTCTAGGTGG	0.498			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2338-2340)GAG>AAG		smooth muscle myosin heavy chain 11 isoform							109.0	101.0	104.0					16																	15841500		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841500C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2338G>A	16.37:g.15841500C>T	ENSP00000300036:p.Glu780Lys					MYH11_uc002ddv.2_Missense_Mutation_p.E787K|MYH11_uc002ddw.2_Missense_Mutation_p.E780K|MYH11_uc002ddx.2_Missense_Mutation_p.E787K|MYH11_uc010bvg.2_Missense_Mutation_p.E612K	p.E780K	NM_002474	NP_002465	P35749	MYH11_HUMAN			19	2445	-			780			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2338G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317568	0.95682	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.46	5.46	0.80206	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.84947	0.0869	10	0.87932	D	0	.	18.3008	0.90163	0.0:1.0:0.0:0.0	.	787;780;787;780;787	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	780;780;787;787;787	ENSP00000300036:E780K;ENSP00000345136:E780K;ENSP00000379616:E787K;ENSP00000407821:E787K	ENSP00000300036:E780K	E	-	1	0	MYH11	15749001	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.818000	0.86416	2.565000	0.86533	0.561000	0.74099	GAG		0.498	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		13	86	0	0	0	0	13	86				
HS3ST4	9951	broad.mit.edu	37	16	26147117	26147117	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:26147117G>A	ENST00000331351.5	+	2	1311	c.919G>A	c.(919-921)Gag>Aag	p.E307K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	307					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAAGAAACCCGAGATCCCCAC	0.537																																						uc002dof.2		NA																	0				large_intestine(1)|breast(1)	2						c.(919-921)GAG>AAG		heparan sulfate D-glucosaminyl							154.0	147.0	149.0					16																	26147117		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147117G>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.919G>A	16.37:g.26147117G>A	ENSP00000330606:p.Glu307Lys						p.E307K	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1311	+			307			Lumenal (Potential).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.919G>A	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925578	0.52759	.	.	ENSG00000182601	ENST00000331351	D	0.82803	-1.65	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.83830	0.5339	L	0.33137	0.985	0.52501	D	0.999955	D	0.71674	0.998	P	0.55391	0.775	T	0.83013	-0.0171	10	0.35671	T	0.21	.	18.0433	0.89325	0.0:0.0:1.0:0.0	.	307	Q9Y661	HS3S4_HUMAN	K	307	ENSP00000330606:E307K	ENSP00000330606:E307K	E	+	1	0	HS3ST4	26054618	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.832000	0.86757	2.491000	0.84063	0.655000	0.94253	GAG		0.537	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		21	165	0	0	0	0	21	165				
KIAA0895L	653319	broad.mit.edu	37	16	67213451	67213451	+	Silent	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:67213451C>G	ENST00000290881.7	-	5	1655	c.729G>C	c.(727-729)ctG>ctC	p.L243L	KIAA0895L_ENST00000563902.1_Silent_p.L243L|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Silent_p.L243L			Q68EN5	K895L_HUMAN	KIAA0895-like	243										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGTCCTCACTCAGCTGCACCA	0.647																																						uc002ert.2		NA																	0					0						c.(727-729)CTG>CTC		hypothetical protein LOC653319							46.0	48.0	47.0					16																	67213451		2133	4241	6374	SO:0001819	synonymous_variant	653319							g.chr16:67213451C>G	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.729G>C	16.37:g.67213451C>G						KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Silent_p.L243L|EXOC3L_uc002erv.1_RNA	p.L243L	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN			4	1504	-			243					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.729G>C	CCDS42177.1																																																																																				0.647	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		4	40	0	0	0	0	4	40				
PELP1	27043	broad.mit.edu	37	17	4575883	4575883	+	Silent	SNP	T	T	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:4575883T>G	ENST00000574876.1	-	16	2420	c.2403A>C	c.(2401-2403)ccA>ccC	p.P801P	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Silent_p.P711P|PELP1_ENST00000301396.4_Silent_p.P945P|PELP1_ENST00000436683.2_Silent_p.P654P|PELP1_ENST00000572293.1_Silent_p.P851P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	801	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGAGGGTGGTGGGGGTGGCA	0.622																																						uc002fyi.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2401-2403)CCA>CCC		proline, glutamic acid and leucine rich protein							10.0	11.0	11.0					17																	4575883		1711	3759	5470	SO:0001819	synonymous_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4575883T>G		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2403A>C	17.37:g.4575883T>G						PELP1_uc010vsf.1_Silent_p.P654P	p.P801P	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			16	2629	-			801			Pro-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	c.2403A>C	CCDS58503.1																																																																																				0.622	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		4	27	0	0	0	0	4	27				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	22	0	0	0	0	6	22				
KRTAP4-1	85285	broad.mit.edu	37	17	39340710	39340710	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:39340710G>A	ENST00000398472.1	-	1	884	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	133	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament (GO:0045095)		p.R129C(1)|p.R133C(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAAGTTGCACGGCAGCAGGTG	0.577																																						uc002hwe.3		NA																	2	Substitution - Missense(2)		large_intestine(2)		0						c.(340-342)CGT>TGT		keratin associated protein 4-1							94.0	102.0	99.0					17																	39340710		2164	4277	6441	SO:0001583	missense	85285					keratin filament		g.chr17:39340710G>A	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.397C>T	17.37:g.39340710G>A	ENSP00000381489:p.Arg133Cys						p.R114C	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		2	381	-		Breast(137;0.000496)	133			16.|18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	Missense_Mutation	SNP	ENST00000398472.1	37	c.340C>T		.	.	.	.	.	.	.	.	.	.	.	14.93	2.683583	0.47991	.	.	ENSG00000244537;ENSG00000198443;ENSG00000198443	ENST00000458321;ENST00000398472;ENST00000334190	T	0.01484	4.84	5.33	-9.65	0.00537	.	.	.	.	.	T	0.01222	0.0040	.	.	.	0.09310	N	1	B	0.25521	0.128	B	0.25614	0.062	T	0.48833	-0.9000	8	0.62326	D	0.03	.	4.9673	0.14096	0.065:0.3404:0.2051:0.3896	.	133	Q9BYQ7	KRA41_HUMAN	C	129;133;114	ENSP00000381489:R133C	ENSP00000335483:R114C	R	-	1	0	KRTAP4-2;KRTAP4-1	36594236	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.555000	0.02170	-1.365000	0.02158	0.655000	0.94253	CGT		0.577	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		6	126	0	0	0	0	6	126				
WFIKKN2	124857	broad.mit.edu	37	17	48917985	48917985	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:48917985C>T	ENST00000311378.4	+	2	1864	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R353W|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	446	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAGCGCTGTCGGGCCTGCAA	0.622																																						uc002isv.3		NA																	0				ovary(2)|skin(1)	3						c.(1336-1338)CGG>TGG		WFIKKN2 protein							42.0	44.0	43.0					17																	48917985		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917985C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1336C>T	17.37:g.48917985C>T	ENSP00000311184:p.Arg446Trp					WFIKKN2_uc010dbu.2_Missense_Mutation_p.R353W	p.R446W	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2030	+			446			NTR.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1336C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244800	0.59103	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.31510	1.49;1.49	5.38	3.21	0.36854	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.170103	0.49916	D	0.000130	T	0.27798	0.0684	L	0.46157	1.445	0.37808	D	0.927941	D	0.56287	0.975	P	0.45610	0.487	T	0.14476	-1.0471	10	0.87932	D	0	.	7.2356	0.26067	0.3179:0.5945:0.0:0.0876	.	446	Q8TEU8	WFKN2_HUMAN	W	353;446;152	ENSP00000405889:R353W;ENSP00000311184:R446W	ENSP00000311184:R446W	R	+	1	2	WFIKKN2	46272984	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.572000	0.60886	2.535000	0.85469	0.556000	0.70494	CGG		0.622	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		8	55	0	0	0	0	8	55				
GDPD1	284161	broad.mit.edu	37	17	57298028	57298028	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:57298028T>C	ENST00000284116.4	+	1	195	c.58T>C	c.(58-60)Tca>Cca	p.S20P	GDPD1_ENST00000581140.1_Missense_Mutation_p.S20P|GDPD1_ENST00000581276.1_Missense_Mutation_p.S20P	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	20					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTTGGTGACCTCATTCTTGTT	0.542											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ixk.1		NA																	0					0						c.(58-60)TCA>CCA		glycerophosphodiester phosphodiesterase domain							156.0	146.0	149.0					17																	57298028		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57298028T>C	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.58T>C	17.37:g.57298028T>C	ENSP00000284116:p.Ser20Pro		OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1022	GDPD1_uc002ixj.2_Missense_Mutation_p.S20P	p.S20P	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN			1	195	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		20			Helical; (Potential).		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.58T>C	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.976839	0.53720	.	.	ENSG00000153982	ENST00000284116	T	0.35236	1.32	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.67669	-0.5611	10	0.72032	D	0.01	.	14.3456	0.66662	0.0:0.0:0.0:1.0	.	20;20	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	P	20	ENSP00000284116:S20P	ENSP00000284116:S20P	S	+	1	0	GDPD1	54652810	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.301000	0.72782	2.073000	0.62155	0.460000	0.39030	TCA		0.542	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		3	137	0	0	0	0	3	137				
LRRC37A3	374819	broad.mit.edu	37	17	62857035	62857035	+	Missense_Mutation	SNP	G	G	A	rs550245467		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr17:62857035G>A	ENST00000584306.1	-	11	3759	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1077W|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R195W|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R54W|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R115W	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1077						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAATTCTTCCGGGCTTGTAAC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21248	0.0		0.0	False		,,,				2504	0.0					uc002jey.2		NA																	0					0						c.(3229-3231)CGG>TGG		leucine rich repeat containing 37, member A3																																				SO:0001583	missense	374819					integral to membrane		g.chr17:62857035G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3229C>T	17.37:g.62857035G>A	ENSP00000464535:p.Arg1077Trp					LRRC37A3_uc010wqg.1_Missense_Mutation_p.R195W|LRRC37A3_uc002jex.1_Missense_Mutation_p.R54W|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R115W|LRRC37A3_uc010dek.1_Missense_Mutation_p.R83W	p.R1077W	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	3760	-			1077			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3229C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	7.210	0.595219	0.13875	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.47869	0.83;0.83;0.83	2.46	1.3	0.21679	.	.	.	.	.	T	0.46521	0.1397	L	0.59436	1.845	0.09310	N	0.999996	D;D	0.65815	0.963;0.995	P;P	0.48552	0.581;0.549	T	0.38735	-0.9647	9	0.87932	D	0	.	5.7021	0.17887	0.0:0.0:0.6805:0.3195	.	195;1077	B4DG20;O60309	.;L37A3_HUMAN	W	158;115;54;1077	ENSP00000383674:R115W;ENSP00000335617:R54W;ENSP00000325713:R1077W	ENSP00000325713:R1077W	R	-	1	2	LRRC37A3	60287497	0.024000	0.19004	0.969000	0.41365	0.119000	0.20118	0.557000	0.23454	1.374000	0.46228	0.298000	0.19748	CGG		0.483	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		24	269	0	0	0	0	24	269				
ARHGEF18	23370	broad.mit.edu	37	19	7531842	7531842	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:7531842C>T	ENST00000359920.6	+	14	2632	c.2379C>T	c.(2377-2379)ccC>ccT	p.P793P	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.P751L|ARHGEF18_ENST00000319670.9_Silent_p.P635P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	793					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCGTCTGCCCACCGTCCTGG	0.637																																						uc002mgi.2		NA																	0				ovary(1)	1						c.(2377-2379)CCC>CCT		Rho/Rac guanine nucleotide exchange factor 18							73.0	76.0	75.0					19																	7531842		2203	4300	6503	SO:0001819	synonymous_variant	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7531842C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2379C>T	19.37:g.7531842C>T						ARHGEF18_uc010xjm.1_Silent_p.P635P|ARHGEF18_uc002mgh.2_Silent_p.P635P|ARHGEF18_uc002mgj.1_Silent_p.P436P	p.P793P	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			14	2632	+		Renal(5;0.0902)	793					A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	ENST00000359920.6	37	c.2379C>T	CCDS45946.1																																																																																				0.637	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		11	68	0	0	0	0	11	68				
CD97	976	broad.mit.edu	37	19	14508888	14508888	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:14508888C>T	ENST00000242786.5	+	9	914	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CD97_ENST00000358600.3_Silent_p.F185F|CD97_ENST00000357355.3_Silent_p.F229F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	278					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTTCCCGATTCTTCGACAAAG	0.587																																						uc002myl.2		NA																	0				ovary(3)|breast(1)	4						c.(832-834)TTC>TTT		CD97 antigen isoform 1 precursor							68.0	66.0	66.0					19																	14508888		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14508888C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.834C>T	19.37:g.14508888C>T						CD97_uc002mym.2_Silent_p.F229F|CD97_uc002myn.2_Silent_p.F185F	p.F278F	NM_078481	NP_510966	P48960	CD97_HUMAN			9	957	+			278			Extracellular (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.834C>T	CCDS32929.1																																																																																				0.587	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		5	74	0	0	0	0	5	74				
USHBP1	83878	broad.mit.edu	37	19	17373676	17373676	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:17373676C>T	ENST00000252597.3	-	4	500	c.327G>A	c.(325-327)gtG>gtA	p.V109V	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.V45V	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCCCAGGGGGCACAGTCTCCT	0.667																																						uc002nfs.1		NA																	0				ovary(1)	1						c.(325-327)GTG>GTA		Usher syndrome 1C binding protein 1							70.0	80.0	76.0					19																	17373676		2203	4300	6503	SO:0001819	synonymous_variant	83878						PDZ domain binding	g.chr19:17373676C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.327G>A	19.37:g.17373676C>T						USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.V45V|USHBP1_uc010eam.1_Silent_p.V37V	p.V109V	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			4	440	-			109						Silent	SNP	ENST00000252597.3	37	c.327G>A	CCDS12353.1																																																																																				0.667	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		14	102	0	0	0	0	14	102				
LYPD3	27076	broad.mit.edu	37	19	43965777	43965777	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:43965777G>A	ENST00000244333.3	-	5	855	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	256					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGTAGAAGTGGTGACAGATGT	0.612																																						uc002owl.1		NA																	0				pancreas(1)	1						c.(766-768)ACC>ATC		GPI-anchored metastasis-associated protein							126.0	134.0	131.0					19																	43965777		2203	4300	6503	SO:0001583	missense	27076					anchored to plasma membrane		g.chr19:43965777G>A	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.767C>T	19.37:g.43965777G>A	ENSP00000244333:p.Thr256Ile					LYPD3_uc002owm.2_3'UTR	p.T256I	NM_014400	NP_055215	O95274	LYPD3_HUMAN			5	875	-		Prostate(69;0.0153)	256					Q9UJ74	Missense_Mutation	SNP	ENST00000244333.3	37	c.767C>T	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571805	0.28003	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.12672	2.66	4.99	2.84	0.33178	.	0.510935	0.18466	N	0.140361	T	0.10252	0.0251	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.22871	-1.0204	10	0.66056	D	0.02	.	6.9934	0.24767	0.0964:0.1863:0.7173:0.0	.	256	O95274	LYPD3_HUMAN	I	256;204	ENSP00000244333:T256I	ENSP00000244333:T256I	T	-	2	0	LYPD3	48657617	0.007000	0.16637	0.002000	0.10522	0.052000	0.14988	0.890000	0.28295	0.629000	0.30376	0.603000	0.83216	ACC		0.612	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		20	118	0	0	0	0	20	118				
CACNG7	59284	broad.mit.edu	37	19	54418666	54418666	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:54418666G>A	ENST00000391767.1	+	4	543	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.V111M|CACNG7_ENST00000391766.1_Missense_Mutation_p.V111M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	111					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTCTTCCTCGTGTTCACGGC	0.607																																						uc002qcr.1		NA																	0				ovary(1)	1						c.(331-333)GTG>ATG		voltage-dependent calcium channel gamma-7							108.0	90.0	96.0					19																	54418666		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418666G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.331G>A	19.37:g.54418666G>A	ENSP00000375647:p.Val111Met					CACNG7_uc010era.1_Missense_Mutation_p.V111M	p.V111M	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	346	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		111			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.331G>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171461	0.38315	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.88741	-2.42;-2.42;-2.42	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.02142	-0.665	0.80722	D	1	B	0.25351	0.124	B	0.23852	0.049	T	0.69224	-0.5201	10	0.16896	T	0.51	-24.3482	13.9093	0.63857	0.0:0.0:1.0:0.0	.	111	P62955	CCG7_HUMAN	M	111	ENSP00000375647:V111M;ENSP00000222212:V111M;ENSP00000375646:V111M	ENSP00000222212:V111M	V	+	1	0	CACNG7	59110478	0.999000	0.42202	0.939000	0.37840	0.976000	0.68499	2.906000	0.48735	2.381000	0.81170	0.563000	0.77884	GTG		0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			9	49	0	0	0	0	9	49				
NLRP8	126205	broad.mit.edu	37	19	56466997	56466997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr19:56466997C>T	ENST00000291971.3	+	3	1644	c.1573C>T	c.(1573-1575)Caa>Taa	p.Q525*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q525*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	525	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGTTTCCCACAAAGACTCAA	0.433																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1573-1575)CAA>TAA		NLR family, pyrin domain containing 8							154.0	152.0	153.0					19																	56466997		2203	4300	6503	SO:0001587	stop_gained	126205					cytoplasm	ATP binding	g.chr19:56466997C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1573C>T	19.37:g.56466997C>T	ENSP00000291971:p.Gln525*					NLRP8_uc010etg.2_Nonsense_Mutation_p.Q525*	p.Q525*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1644	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	525			NACHT.		Q7RTR4	Nonsense_Mutation	SNP	ENST00000291971.3	37	c.1573C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	37	6.116782	0.97296	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.04	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.8653	0.13606	0.2278:0.3217:0.4504:0.0	.	.	.	.	X	525	.	ENSP00000291971:Q525X	Q	+	1	0	NLRP8	61158809	0.000000	0.05858	0.000000	0.03702	0.812000	0.45895	-0.649000	0.05384	-0.414000	0.07495	0.514000	0.50259	CAA		0.433	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		8	171	0	0	0	0	8	171				
DDX1	1653	broad.mit.edu	37	2	15770222	15770222	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:15770222A>G	ENST00000381341.2	+	26	2469	c.2080A>G	c.(2080-2082)Agg>Ggg	p.R694G	DDX1_ENST00000233084.3_Missense_Mutation_p.R694G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	694	Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CGGTCAGAAAAGGGCTGCTGG	0.373																																						uc002rce.2		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2080-2082)AGG>GGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							90.0	98.0	95.0					2																	15770222		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770222A>G	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2080A>G	2.37:g.15770222A>G	ENSP00000370745:p.Arg694Gly						p.R694G	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	25	2368	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	694			Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.2080A>G	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020448	0.75275	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	T;T	0.49139	0.79;0.79	6.16	6.16	0.99307	.	0.043047	0.85682	D	0.000000	T	0.56630	0.1998	M	0.87547	2.89	0.80722	D	1	B	0.29835	0.258	B	0.26969	0.075	T	0.60647	-0.7222	10	0.66056	D	0.02	-25.8717	16.8061	0.85666	1.0:0.0:0.0:0.0	.	694	Q92499	DDX1_HUMAN	G	694	ENSP00000370745:R694G;ENSP00000233084:R694G	ENSP00000233084:R694G	R	+	1	2	DDX1	15687673	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	6.048000	0.71046	2.367000	0.80283	0.528000	0.53228	AGG		0.373	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		3	118	0	0	0	0	3	118				
APOB	338	broad.mit.edu	37	2	21233487	21233487	+	Nonsense_Mutation	SNP	G	G	A	rs121918386		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:21233487G>A	ENST00000233242.1	-	26	6380	c.6253C>T	c.(6253-6255)Cga>Tga	p.R2085*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2085	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTTTGTCGATTCCTCTCA	0.343																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	GRCh37	CM890005	APOB	M	rs121918386	c.(6253-6255)CGA>TGA		apolipoprotein B precursor	Atorvastatin(DB01076)						68.0	75.0	73.0					2																	21233487		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233487G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6253C>T	2.37:g.21233487G>A	ENSP00000233242:p.Arg2085*						p.R2085*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6381	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2085			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.6253C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	44	10.757992	0.99462	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.14	5.14	0.70334	.	0.492294	0.16470	N	0.213030	.	.	.	.	.	.	0.50813	A	0.999891	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8826	0.52583	0.0:0.0:0.7011:0.2989	.	.	.	.	X	2085	.	ENSP00000233242:R2085X	R	-	1	2	APOB	21086992	0.131000	0.22433	0.696000	0.30242	0.330000	0.28571	2.717000	0.47227	2.375000	0.81037	0.561000	0.74099	CGA		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	57	0	0	0	0	6	57				
TCF7L1	83439	broad.mit.edu	37	2	85536379	85536379	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:85536379G>A	ENST00000282111.3	+	12	1836	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	521					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACTCTGCCGCCTTCCTGTC	0.687																																						uc002soy.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(1561-1563)GCC>ACC		HMG-box transcription factor TCF-3							34.0	35.0	35.0					2																	85536379		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536379G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1561G>A	2.37:g.85536379G>A	ENSP00000282111:p.Ala521Thr						p.A521T	NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN			12	1635	+			521					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1561G>A	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906385	0.33628	.	.	ENSG00000152284	ENST00000282111	D	0.98474	-4.95	5.36	3.56	0.40772	.	0.240330	0.40144	N	0.001162	D	0.94518	0.8235	L	0.29908	0.895	0.39487	D	0.967986	B	0.10296	0.003	B	0.06405	0.002	D	0.90516	0.4485	10	0.18710	T	0.47	.	10.2808	0.43539	0.1606:0.0:0.8394:0.0	.	521	Q9HCS4	TF7L1_HUMAN	T	521	ENSP00000282111:A521T	ENSP00000282111:A521T	A	+	1	0	TCF7L1	85389890	0.728000	0.28080	0.747000	0.31113	0.276000	0.26787	0.947000	0.29082	0.822000	0.34565	0.655000	0.94253	GCC		0.687	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		6	26	0	0	0	0	6	26				
STAT1	6772	broad.mit.edu	37	2	191843715	191843715	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:191843715G>A	ENST00000361099.3	-	21	2127	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G580G|STAT1_ENST00000392323.2_Silent_p.G582G|STAT1_ENST00000392322.3_Silent_p.G580G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	580	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TGCTGATGAAGCCCATGATGC	0.522																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1738-1740)GGC>GGT		signal transducer and activator of transcription	Fludarabine(DB01073)						51.0	50.0	50.0					2																	191843715		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191843715G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1740C>T	2.37:g.191843715G>A						STAT1_uc010fse.1_Silent_p.G580G|STAT1_uc002usk.2_Silent_p.G580G|STAT1_uc002usl.2_Silent_p.G582G	p.G580G	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		21	2128	-			580			SH2.		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1740C>T	CCDS2309.1																																																																																				0.522	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		3	21	0	0	0	0	3	21				
PGAP1	80055	broad.mit.edu	37	2	197763049	197763049	+	Silent	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr2:197763049G>A	ENST00000354764.4	-	6	966	c.852C>T	c.(850-852)tcC>tcT	p.S284S	PGAP1_ENST00000409475.1_Silent_p.S284S|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.S242S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	284					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACCACACAATGGAGAGGTGGT	0.343																																						uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(850-852)TCC>TCT		GPI deacylase							92.0	89.0	90.0					2																	197763049		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197763049G>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.852C>T	2.37:g.197763049G>A						PGAP1_uc002utx.2_Silent_p.S110S|PGAP1_uc002uty.1_Silent_p.S284S|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Silent_p.S110S	p.S284S	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			6	966	-			284			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.852C>T	CCDS2318.1																																																																																				0.343	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		11	67	0	0	0	0	11	67				
SLC52A3	113278	broad.mit.edu	37	20	746115	746115	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:746115C>T	ENST00000217254.7	-	2	545	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	SLC52A3_ENST00000381944.3_Missense_Mutation_p.G102S|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	102					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CTGTGGTGGCCGTCCAGCACC	0.597																																						uc002wed.3		NA																	0				ovary(2)	2						c.(304-306)GGC>AGC		hypothetical protein LOC113278 precursor							58.0	46.0	50.0					20																	746115		2201	4299	6500	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:746115C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.304G>A	20.37:g.746115C>T	ENSP00000217254:p.Gly102Ser					C20orf54_uc002wee.2_Missense_Mutation_p.G102S	p.G102S	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	643	-			102			Helical; (Potential).		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.304G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	0.201	-1.045122	0.01997	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	D;D	0.88354	-2.37;-2.37	5.67	-1.35	0.09114	.	1.442530	0.03587	N	0.231234	T	0.79522	0.4460	N	0.25647	0.755	0.09310	N	1	B;B	0.15930	0.015;0.002	B;B	0.09377	0.004;0.002	T	0.63554	-0.6611	10	0.09338	T	0.73	-5.0689	6.693	0.23183	0.0:0.4319:0.3042:0.2639	.	102;102	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	S	102	ENSP00000217254:G102S;ENSP00000371370:G102S	ENSP00000217254:G102S	G	-	1	0	C20orf54	694115	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.275000	0.08525	-0.480000	0.06803	-0.913000	0.02753	GGC		0.597	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		3	10	0	0	0	0	3	10				
ZNFX1	57169	broad.mit.edu	37	20	47863942	47863942	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr20:47863942C>T	ENST00000396105.1	-	14	5865	c.5619G>A	c.(5617-5619)aaG>aaA	p.K1873K	ZNFX1_ENST00000371752.1_Silent_p.K1873K|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1873							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAATCACTTCCTTACAGTCAG	0.527																																						uc002xui.2		NA																	0				ovary(2)	2						c.(5617-5619)AAG>AAA		zinc finger, NFX1-type containing 1							137.0	118.0	125.0					20																	47863942		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47863942C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5619G>A	20.37:g.47863942C>T							p.K1873K	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5866	-			1873					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.5619G>A	CCDS13417.1																																																																																				0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		10	66	0	0	0	0	10	66				
OLIG2	10215	broad.mit.edu	37	21	34399432	34399432	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr21:34399432T>G	ENST00000333337.3	+	1	1190	c.262T>G	c.(262-264)Tcg>Gcg	p.S88A	AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.S88A|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	88	Poly-Ser.				myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						GTCTACGTCGTCGGCGGCTGC	0.632			T	TRA@	T-ALL																																	uc002yqx.1		NA		Dom	yes		21	21q22.11	10215	T	oligodendrocyte lineage transcription factor 2 (BHLHB1)			L	TRA@		T-ALL		0				central_nervous_system(2)	2						c.(262-264)TCG>GCG		oligodendrocyte lineage transcription factor 2							23.0	25.0	24.0					21																	34399432		2201	4299	6500	SO:0001583	missense	10215					cytoplasm|nucleus|plasma membrane	DNA binding	g.chr21:34399432T>G	U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"""Basic helix-loop-helix proteins"""	9398	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2"", ""human protein kinase C-binding protein RACK17"", ""basic domain, helix-loop-helix protein, class B, 1"""	606386	"""protein kinase C binding protein 2"""	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.262T>G	21.37:g.34399432T>G	ENSP00000331040:p.Ser88Ala						p.S88A	NM_005806	NP_005797	Q13516	OLIG2_HUMAN			2	420	+			88			Poly-Ser.		B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	ENST00000333337.3	37	c.262T>G	CCDS13620.1	.	.	.	.	.	.	.	.	.	.	T	7.268	0.606647	0.14002	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	T;T	0.80566	-1.39;-1.39	3.25	0.555	0.17247	.	.	.	.	.	T	0.56514	0.1990	N	0.08118	0	0.20975	N	0.999813	B	0.10296	0.003	B	0.06405	0.002	T	0.38866	-0.9641	9	0.05525	T	0.97	.	9.5305	0.39191	0.0:0.0:0.5492:0.4508	.	88	Q13516	OLIG2_HUMAN	A	88	ENSP00000371794:S88A;ENSP00000331040:S88A	ENSP00000331040:S88A	S	+	1	0	OLIG2	33321302	0.291000	0.24352	0.998000	0.56505	0.980000	0.70556	0.301000	0.19174	-0.084000	0.12595	0.379000	0.24179	TCG		0.632	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139663.1	NM_005806		6	18	0	0	0	0	6	18				
ZC3H7B	23264	broad.mit.edu	37	22	41752766	41752766	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr22:41752766G>A	ENST00000352645.4	+	22	2892	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G879S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	895					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGACGCCAGCGGCTGGGCCTT	0.647																																						uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(2635-2637)GGC>AGC		zinc finger CCCH-type containing 7B							103.0	92.0	96.0					22																	41752766		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41752766G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2635G>A	22.37:g.41752766G>A	ENSP00000345793:p.Gly879Ser					ZC3H7B_uc010gyl.1_Intron	p.G879S	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			22	2851	+			895					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2635G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208479	0.58343	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.10763	2.84;2.84	5.57	3.35	0.38373	.	0.403128	0.24470	N	0.038251	T	0.06645	0.0170	N	0.22421	0.69	0.27721	N	0.945119	B	0.31153	0.31	B	0.29524	0.103	T	0.23583	-1.0184	10	0.37606	T	0.19	-26.7435	6.7401	0.23431	0.0904:0.0:0.4171:0.4925	.	879	Q9UGR2-2	.	S	879	ENSP00000345793:G879S;ENSP00000263243:G879S	ENSP00000263243:G879S	G	+	1	0	ZC3H7B	40082712	0.998000	0.40836	0.987000	0.45799	0.985000	0.73830	2.496000	0.45346	1.308000	0.44962	0.563000	0.77884	GGC		0.647	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		4	115	0	0	0	0	4	115				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	57	0	0	0	0	10	57				
STPG2	285555	broad.mit.edu	37	4	98893492	98893492	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:98893492G>A	ENST00000295268.3	-	7	961	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	291																	GAAAGTCCGAGGAACAGAAGA	0.358																																						uc003htt.1		NA																	0					0						c.(871-873)CCT>CTT		hypothetical protein LOC285555							83.0	83.0	83.0					4																	98893492		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98893492G>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.872C>T	4.37:g.98893492G>A	ENSP00000295268:p.Pro291Leu						p.P291L	NM_174952	NP_777612	Q8N412	CD037_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)	7	962	-			291						Missense_Mutation	SNP	ENST00000295268.3	37	c.872C>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542239	0.27563	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.48201	0.82;2.63	5.45	5.45	0.79879	.	0.329639	0.28718	N	0.014377	T	0.64472	0.2601	L	0.56769	1.78	0.46631	D	0.999137	D	0.58620	0.983	D	0.65443	0.935	T	0.60146	-0.7320	10	0.34782	T	0.22	-5.3381	18.0593	0.89372	0.0:0.0:1.0:0.0	.	291	Q8N412	CD037_HUMAN	L	5;291	ENSP00000428346:P5L;ENSP00000295268:P291L	ENSP00000295268:P291L	P	-	2	0	C4orf37	99112515	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	4.133000	0.57983	2.555000	0.86185	0.557000	0.71058	CCT		0.358	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		6	120	0	0	0	0	6	120				
METTL14	57721	broad.mit.edu	37	4	119621745	119621745	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:119621745C>T	ENST00000388822.5	+	8	853	c.686C>T	c.(685-687)tCa>tTa	p.S229L	METTL14_ENST00000506780.1_Missense_Mutation_p.S191L			Q9HCE5	MET14_HUMAN	methyltransferase like 14	229					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCACCTCGATCATTTATTTTT	0.338																																						uc003icf.2		NA																	0					0						c.(685-687)TCA>TTA		methyltransferase like 14							145.0	143.0	144.0					4																	119621745		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119621745C>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.686C>T	4.37:g.119621745C>T	ENSP00000373474:p.Ser229Leu					METTL14_uc003icg.2_Missense_Mutation_p.S191L	p.S229L	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN			8	802	+			229					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.686C>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	c	26.3	4.722585	0.89298	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.44881	0.91;0.91	4.27	4.27	0.50696	.	0.204155	0.43260	D	0.000593	T	0.66577	0.2803	M	0.86420	2.815	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.60541	0.696;0.876	T	0.75673	-0.3236	10	0.72032	D	0.01	-2.0707	17.06	0.86544	0.0:1.0:0.0:0.0	.	191;229	D6RBL4;Q9HCE5	.;MTL14_HUMAN	L	229;191	ENSP00000373474:S229L;ENSP00000424111:S191L	ENSP00000373474:S229L	S	+	2	0	METTL14	119841193	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	6.881000	0.75584	2.117000	0.64856	0.467000	0.42956	TCA		0.338	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		12	81	0	0	0	0	12	81				
FAT4	79633	broad.mit.edu	37	4	126372350	126372350	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:126372350C>T	ENST00000394329.3	+	9	10192	c.10179C>T	c.(10177-10179)gtC>gtT	p.V3393V	FAT4_ENST00000335110.5_Silent_p.V1691V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3393	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAATGTCACCGTGCTTG	0.428																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10177-10179)GTC>GTT		FAT tumor suppressor homolog 4 precursor							187.0	177.0	180.0					4																	126372350		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372350C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10179C>T	4.37:g.126372350C>T						FAT4_uc011cgp.1_Silent_p.V1691V|FAT4_uc003ifi.1_Silent_p.V871V	p.V3393V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10179	+			3393			Cadherin 32.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10179C>T	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		19	161	0	0	0	0	19	161				
MAP9	79884	broad.mit.edu	37	4	156277012	156277012	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:156277012C>T	ENST00000311277.4	-	9	1409	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000515654.1_Silent_p.K358K|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000600928.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	382					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AACTAGATTTCTTCAAAAACT	0.348																																						uc003ios.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1144-1146)AAG>AAA		aster-associated protein							53.0	53.0	53.0					4																	156277012		2203	4300	6503	SO:0001819	synonymous_variant	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156277012C>T	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1146G>A	4.37:g.156277012C>T						MAP9_uc011cin.1_Silent_p.K357K|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Silent_p.K381K	p.K382K	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	9	1410	-	all_hematologic(180;0.24)	Renal(120;0.0458)	382					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	ENST00000311277.4	37	c.1146G>A	CCDS35493.1																																																																																				0.348	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		4	38	0	0	0	0	4	38				
ASB5	140458	broad.mit.edu	37	4	177146412	177146412	+	Splice_Site	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr4:177146412C>T	ENST00000296525.3	-	2	390		c.e2+1		ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TAATATATTACCTGTGATAAT	0.363																																						uc003iuq.1		NA																	0				skin(2)	2						c.e2+1		ankyrin repeat and SOCS box-containing protein							74.0	80.0	78.0					4																	177146412		2203	4300	6503	SO:0001630	splice_region_variant	140458				intracellular signal transduction			g.chr4:177146412C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.276+1G>A	4.37:g.177146412C>T						ASB5_uc003iup.1_Splice_Site_p.Q39_splice	p.Q92_splice	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	2	292	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)						Q8N7B5	Splice_Site	SNP	ENST00000296525.3	37	c.276_splice	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788871	0.90367	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASB5	177383406	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.205000	0.77881	2.937000	0.99478	0.650000	0.86243	.		0.363	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		Intron	5	47	0	0	0	0	5	47				
C6	729	broad.mit.edu	37	5	41199881	41199881	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:41199881C>T	ENST00000263413.3	-	4	698	c.434G>A	c.(433-435)cGc>cAc	p.R145H	C6_ENST00000337836.5_Missense_Mutation_p.R145H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGTCACAGCGAAATTTATT	0.413																																						uc003jmk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(433-435)CGC>CAC		complement component 6 precursor							119.0	120.0	119.0					5																	41199881		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41199881C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.434G>A	5.37:g.41199881C>T	ENSP00000263413:p.Arg145His					C6_uc003jml.1_Missense_Mutation_p.R145H	p.R145H	NM_000065	NP_000056	P13671	CO6_HUMAN			4	644	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	145			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263413.3	37	c.434G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210688	0.79240	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.96136	-3.92;-3.92	6.02	2.83	0.33086	.	0.397022	0.30020	N	0.010602	D	0.92996	0.7771	L	0.38531	1.155	0.30666	N	0.75392	D	0.62365	0.991	P	0.55391	0.775	D	0.88953	0.3388	10	0.46703	T	0.11	-10.7302	2.3976	0.04394	0.2334:0.4263:0.0:0.3403	.	145	P13671	CO6_HUMAN	H	145	ENSP00000338861:R145H;ENSP00000263413:R145H	ENSP00000263413:R145H	R	-	2	0	C6	41235638	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.251000	0.32862	0.832000	0.34804	-0.157000	0.13467	CGC		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			15	105	0	0	0	0	15	105				
CHD1	1105	broad.mit.edu	37	5	98218909	98218909	+	Silent	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:98218909T>C	ENST00000284049.3	-	18	2750	c.2601A>G	c.(2599-2601)ggA>ggG	p.G867G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	867	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTAGACCTCCAGCTCTTG	0.373																																						uc003knf.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(2599-2601)GGA>GGG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						61.0	60.0	60.0					5																	98218909		2203	4300	6503	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98218909T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2601A>G	5.37:g.98218909T>C							p.G867G	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	18	2749	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	867			Helicase C-terminal.		Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.2601A>G	CCDS34204.1																																																																																				0.373	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		3	43	0	0	0	0	3	43				
TICAM2	353376	broad.mit.edu	37	5	114916440	114916440	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:114916440G>A	ENST00000427199.2	-	2	955	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.P341S|TICAM2_ENST00000408996.4_Missense_Mutation_p.P341S|TICAM2_ENST00000513729.1_5'Flank|TMED7-TICAM2_ENST00000333314.3_3'UTR	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	172	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		GGCCGCATGGGTATAACAGAG	0.443																																						uc003krd.2		NA																	0					0						c.(514-516)CCC>TCC		toll-like receptor adaptor molecule 2							78.0	85.0	82.0					5																	114916440		2202	4300	6502	SO:0001583	missense	100302736				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chr5:114916440G>A	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.514C>T	5.37:g.114916440G>A	ENSP00000415139:p.Pro172Ser					TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.P341S|TICAM2_uc003krc.2_Missense_Mutation_p.P172S	p.P172S	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN			4	1520	-			172			TIR.		B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.514C>T	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923797	0.92319	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.36340	1.26;1.26;1.26	5.74	5.74	0.90152	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.53938	D	0.000043	T	0.58949	0.2158	M	0.62723	1.935	0.45946	D	0.998772	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.59037	-0.7529	10	0.66056	D	0.02	.	16.845	0.85978	0.0:0.0:1.0:0.0	.	341;172	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	S	341;172;341	ENSP00000386341:P341S;ENSP00000415139:P172S;ENSP00000282382:P341S	ENSP00000415139:P172S	P	-	1	0	TICAM2;TMED7-TICAM2	114944339	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	6.781000	0.75068	2.708000	0.92522	0.585000	0.79938	CCC		0.443	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		6	84	0	0	0	0	6	84				
DIAPH1	1729	broad.mit.edu	37	5	140908785	140908785	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:140908785T>C	ENST00000398557.4	-	21	2872	c.2732A>G	c.(2731-2733)aAg>aGg	p.K911R	DIAPH1_ENST00000398566.3_Missense_Mutation_p.K903R|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K902R|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K854R|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K908R|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K887R|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K899R|DIAPH1_ENST00000253811.6_Missense_Mutation_p.K912R	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	911	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATTCATCCTTCAGTTCAGA	0.498																																						uc003llb.3		NA																	0				skin(1)	1						c.(2731-2733)AAG>AGG		diaphanous 1 isoform 1							124.0	125.0	124.0					5																	140908785		2126	4244	6370	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908785T>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2732A>G	5.37:g.140908785T>C	ENSP00000381565:p.Lys911Arg					DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.K902R|DIAPH1_uc010jgc.1_Missense_Mutation_p.K347R	p.K911R	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	2873	-			911			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2732A>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816152	0.70912	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.37	5.37	0.77165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	M	0.71920	2.185	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.993	D;D;D	0.80764	0.994;0.974;0.974	T	0.77480	-0.2572	10	0.42905	T	0.14	.	14.3789	0.66897	0.0:0.0:0.0:1.0	.	854;902;911	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	R	908;854;887;902;903;911;912;899	ENSP00000373706:K908R;ENSP00000429282:K854R;ENSP00000381570:K887R;ENSP00000373709:K902R;ENSP00000381572:K903R;ENSP00000381565:K911R;ENSP00000253811:K912R;ENSP00000428268:K899R	ENSP00000253811:K912R	K	-	2	0	DIAPH1	140888969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.282000	0.72639	2.032000	0.59987	0.528000	0.53228	AAG		0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		9	73	0	0	0	0	9	73				
N4BP3	23138	broad.mit.edu	37	5	177548577	177548577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr5:177548577C>T	ENST00000274605.5	+	5	1569	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	404						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TCTGAAGACACAACTTCGGGG	0.647																																						uc003mik.1		NA																	0					0						c.(1210-1212)CAA>TAA		Nedd4 binding protein 3							61.0	70.0	67.0					5																	177548577		2203	4300	6503	SO:0001587	stop_gained	23138					cytoplasmic vesicle membrane		g.chr5:177548577C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1210C>T	5.37:g.177548577C>T	ENSP00000274605:p.Gln404*					N4BP3_uc003mil.1_Nonsense_Mutation_p.Q73*	p.Q404*	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1457	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	404			Potential.		B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Nonsense_Mutation	SNP	ENST00000274605.5	37	c.1210C>T	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	C	40	8.166442	0.98686	.	.	ENSG00000145911	ENST00000274605	.	.	.	5.05	4.09	0.47781	.	0.054494	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.7306	13.7626	0.62975	0.1643:0.8357:0.0:0.0	.	.	.	.	X	404	.	ENSP00000274605:Q404X	Q	+	1	0	N4BP3	177481183	1.000000	0.71417	0.606000	0.28943	0.993000	0.82548	4.663000	0.61532	2.362000	0.80069	0.561000	0.74099	CAA		0.647	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		13	85	0	0	0	0	13	85				
MEP1A	4224	broad.mit.edu	37	6	46787388	46787388	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr6:46787388C>G	ENST00000230588.4	+	7	512	c.503C>G	c.(502-504)tCa>tGa	p.S168*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	168	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGAGCAGTCAAGGACGGAC	0.478																																						uc010jzh.1		NA																	0				pancreas(2)|ovary(1)	3						c.(502-504)TCA>TGA		meprin A alpha precursor							285.0	262.0	270.0					6																	46787388		2203	4300	6503	SO:0001587	stop_gained	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46787388C>G		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.503C>G	6.37:g.46787388C>G	ENSP00000230588:p.Ser168*					MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Nonsense_Mutation_p.S196*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.S68*	p.S168*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		7	545	+			168			Extracellular (Potential).|Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Nonsense_Mutation	SNP	ENST00000230588.4	37	c.503C>G	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	37	6.168983	0.97343	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.3856	20.0795	0.97766	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000230588:S168X	S	+	2	0	MEP1A	46895347	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.747000	0.94245	0.650000	0.86243	TCA		0.478	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		5	227	0	0	0	0	5	227				
GSAP	54103	broad.mit.edu	37	7	77006706	77006706	+	Splice_Site	SNP	A	A	C			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr7:77006706A>C	ENST00000257626.7	-	9	656	c.578T>G	c.(577-579)gTg>gGg	p.V193G		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	193					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATTTTTAATCACCTAAAAATG	0.308																																						uc003ugf.2		NA																	0				central_nervous_system(1)	1						c.(577-579)GTG>GGG		pigeon homolog							73.0	76.0	75.0					7																	77006706		2203	4300	6503	SO:0001630	splice_region_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:77006706A>C		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.577-1T>G	7.37:g.77006706A>C						PION_uc003ugg.1_5'UTR	p.V193G	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			9	657	-			193					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.578T>G	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	19.64	3.864837	0.71949	.	.	ENSG00000186088	ENST00000257626	T	0.22336	1.96	5.45	5.45	0.79879	.	0.273612	0.25037	U	0.033638	T	0.46502	0.1396	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.47129	-0.9141	10	0.87932	D	0	.	14.5053	0.67748	1.0:0.0:0.0:0.0	.	193	A4D1B5	GSAP_HUMAN	G	193	ENSP00000257626:V193G	ENSP00000257626:V193G	V	-	2	0	PION	76844642	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	5.974000	0.70465	2.059000	0.61396	0.528000	0.53228	GTG		0.308	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	Missense_Mutation	9	64	0	0	0	0	9	64				
SH2D4A	63898	broad.mit.edu	37	8	19190591	19190591	+	Missense_Mutation	SNP	C	C	T	rs371391629		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:19190591C>T	ENST00000265807.3	+	3	718	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	SH2D4A_ENST00000518040.1_Missense_Mutation_p.R58W|SH2D4A_ENST00000519207.1_Missense_Mutation_p.R103W	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	103					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGAGAGGGCCCGGCTGAAAGC	0.463																																						uc003wzb.2		NA																	0					0						c.(307-309)CGG>TGG		SH2 domain containing 4A		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	84.0	86.0	86.0		307,172,307	4.7	0.1	8		86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SH2D4A	NM_001174159.1,NM_001174160.1,NM_022071.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	103/455,58/410,103/455	19190591	1,13005	2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19190591C>T	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.307C>T	8.37:g.19190591C>T	ENSP00000265807:p.Arg103Trp					SH2D4A_uc011kym.1_Missense_Mutation_p.R58W|SH2D4A_uc003wzc.2_Missense_Mutation_p.R103W	p.R103W	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	3	643	+			103					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.307C>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	C	7.239	0.600910	0.13939	0.0	1.16E-4	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.13538	2.66;2.58;2.66;2.66	5.58	4.7	0.59300	.	1.425700	0.04327	N	0.351724	T	0.25568	0.0622	M	0.77313	2.365	0.09310	N	1	B;B	0.23490	0.086;0.013	B;B	0.15052	0.012;0.007	T	0.42682	-0.9437	10	0.87932	D	0	.	13.6272	0.62173	0.1562:0.8438:0.0:0.0	.	58;103	B4DDR1;Q9H788	.;SH24A_HUMAN	W	103;58;103;89	ENSP00000265807:R103W;ENSP00000429482:R58W;ENSP00000428684:R103W;ENSP00000428048:R89W	ENSP00000265807:R103W	R	+	1	2	SH2D4A	19234871	0.002000	0.14202	0.067000	0.19924	0.097000	0.18754	1.154000	0.31688	1.345000	0.45676	0.455000	0.32223	CGG		0.463	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		8	68	0	0	0	0	8	68				
CSMD3	114788	broad.mit.edu	37	8	113241099	113241099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr8:113241099G>T	ENST00000297405.5	-	70	11094	c.10850C>A	c.(10849-10851)tCa>tAa	p.S3617*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3448*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3547*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3577*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3617						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3617*(1)|p.S3577*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAGAATTTGAACCTTCTGA	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10849-10851)TCA>TAA		CUB and Sushi multiple domains 3 isoform 1							66.0	68.0	67.0					8																	113241099		2203	4298	6501	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113241099G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10850C>A	8.37:g.113241099G>T	ENSP00000297405:p.Ser3617*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.S2819*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3577*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3448*	p.S3617*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			70	11009	-			3617			Extracellular (Potential).		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.10850C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	52	19.422578	0.99919	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.63	3.83	0.44106	.	0.737580	0.12232	N	0.487324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8322	0.63389	0.1349:0.0:0.8651:0.0	.	.	.	.	X	3577;3617;2887;3448;3547	.	ENSP00000297405:S3617X	S	-	2	0	CSMD3	113310275	0.997000	0.39634	0.953000	0.39169	0.973000	0.67179	2.567000	0.45956	0.423000	0.26033	-0.797000	0.03246	TCA		0.279	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	46	1	0	0.00909568	0.00988349	4	46				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	14	0	0	0	0	3	14				
DUSP21	63904	broad.mit.edu	37	X	44703847	44703847	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:44703847G>A	ENST00000339042.4	+	1	599	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	157	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E157K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CATCAATTACGAATTCAAGCT	0.498																																						uc004dgd.2		NA																	1	Substitution - Missense(1)		skin(1)	large_intestine(1)|lung(1)	2						c.(469-471)GAA>AAA		dual specificity phosphatase 21							64.0	54.0	58.0					X																	44703847		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703847G>A	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.469G>A	X.37:g.44703847G>A	ENSP00000343244:p.Glu157Lys						p.E157K	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	599	+			157			Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.469G>A	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.113374	0.77210	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.87103	-2.21	3.95	3.95	0.45737	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95287	0.8391	10	0.87932	D	0	.	12.9846	0.58583	0.0:0.0:1.0:0.0	.	157	Q9H596	DUS21_HUMAN	K	157;156	ENSP00000343244:E157K	ENSP00000343244:E157K	E	+	1	0	DUSP21	44588791	1.000000	0.71417	0.164000	0.22755	0.397000	0.30659	9.492000	0.97957	2.225000	0.72522	0.597000	0.82753	GAA		0.498	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		9	54	0	0	0	0	9	54				
NUDT11	55190	broad.mit.edu	37	X	51238820	51238820	+	Silent	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:51238820C>T	ENST00000375992.3	-	1	628	c.477G>A	c.(475-477)tcG>tcA	p.S159S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	159					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGCTATCTGGCGAGGATGGGG	0.562										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	uc010njt.2		NA																	0					0						c.(475-477)TCG>TCA		nudix-type motif 11							47.0	50.0	49.0					X																	51238820		2203	4297	6500	SO:0001819	synonymous_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51238820C>T	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.477G>A	X.37:g.51238820C>T		HNSCC(48;0.14)					p.S159S	NM_018159	NP_060629	Q96G61	NUD11_HUMAN			1	640	-	Ovarian(276;0.236)		159					Q9NVN0	Silent	SNP	ENST00000375992.3	37	c.477G>A	CCDS43952.1																																																																																				0.562	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	31	0	0	0	0	4	31				
PCDH11X	27328	broad.mit.edu	37	X	91133558	91133558	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:91133558T>A	ENST00000373094.1	+	2	3164	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	PCDH11X_ENST00000504220.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N773K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N773K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	773	Cadherin 7. {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						TGTTCGTGAATGAGTCGGTGA	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2317-2319)AAT>AAA		protocadherin 11 X-linked isoform c							215.0	177.0	190.0					X																	91133558		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133558T>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.2319T>A	X.37:g.91133558T>A	ENSP00000362186:p.Asn773Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.N773K|PCDH11X_uc004efo.1_Missense_Mutation_p.N773K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N773K|PCDH11X_uc004efm.1_Missense_Mutation_p.N773K|PCDH11X_uc004efn.1_Missense_Mutation_p.N773K|PCDH11X_uc004efh.1_Missense_Mutation_p.N773K|PCDH11X_uc004efj.1_Missense_Mutation_p.N773K	p.N773K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3164	+			773			Cadherin 7.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2319T>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101061	0.37048	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.62;0.62;0.56;0.63;0.59;0.61;0.64;0.63	4.76	2.38	0.29361	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.89601	3.045	0.39346	D	0.965678	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.999;0.999;0.999;1.0;0.999;0.999	T	0.74179	-0.3749	10	0.87932	D	0	.	7.5699	0.27900	0.0:0.27:0.0:0.73	.	773;773;773;773;773;773;773;773	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	773	ENSP00000378746:N773K;ENSP00000362186:N773K;ENSP00000362189:N773K;ENSP00000355040:N773K;ENSP00000362180:N773K;ENSP00000423762:N773K;ENSP00000355105:N773K;ENSP00000384758:N773K;ENSP00000298274:N773K	ENSP00000298274:N773K	N	+	3	2	PCDH11X	91020214	1.000000	0.71417	0.988000	0.46212	0.787000	0.44495	1.288000	0.33296	0.509000	0.28195	0.437000	0.28790	AAT		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		15	124	0	0	0	0	15	124				
SMARCA1	6594	broad.mit.edu	37	X	128615129	128615129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:128615129G>A	ENST00000371122.4	-	18	2380	c.2251C>T	c.(2251-2253)Cga>Tga	p.R751*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R739*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R739*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	751					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCGTTCTCGTTTAGGAGGT	0.423																																						uc004eun.3		NA																	0				ovary(3)|skin(1)	4						c.(2251-2253)CGA>TGA		SWI/SNF-related matrix-associated							177.0	116.0	137.0					X																	128615129		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128615129G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2251C>T	X.37:g.128615129G>A	ENSP00000360163:p.Arg751*					SMARCA1_uc004eup.3_Nonsense_Mutation_p.R739*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.R751*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R739*	p.R751*	NM_003069	NP_003060	P28370	SMCA1_HUMAN			18	2364	-			751					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.2251C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	41	8.825148	0.98968	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.81	4.94	0.65067	.	0.000000	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9016	13.4028	0.60893	0.0:0.0:0.598:0.402	.	.	.	.	X	739;739;751;730	.	ENSP00000360162:R739X	R	-	1	2	SMARCA1	128442810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.081000	0.64444	1.184000	0.42957	0.600000	0.82982	CGA		0.423	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		11	49	0	0	0	0	11	49				
PNMA3	29944	broad.mit.edu	37	X	152226306	152226306	+	Silent	SNP	A	A	G			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:152226306A>G	ENST00000370264.4	+	1	920	c.894A>G	c.(892-894)ttA>ttG	p.L298L	PNMA3_ENST00000447306.1_Silent_p.L298L|PNMA3_ENST00000370265.4_Silent_p.L298L			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	298					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					aacgagtcttaagtggggcca	0.502																																						uc004fhc.2		NA																	0				skin(2)|large_intestine(1)	3						c.(892-894)TTA>TTG		paraneoplastic cancer-testis-brain antigen							81.0	73.0	76.0					X																	152226306		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226306A>G	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.894A>G	X.37:g.152226306A>G						PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.L298L	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	1230	+	Acute lymphoblastic leukemia(192;6.56e-05)		298					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.894A>G	CCDS35435.2																																																																																				0.502	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		6	63	0	0	0	0	6	63				
F8	2157	broad.mit.edu	37	X	154250784	154250784	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:154250784C>T	ENST00000360256.4	-	1	244	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	15					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAGCAGAATCGCAAAAGGCA	0.448																																						uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(43-45)CGA>CAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						181.0	153.0	163.0					X																	154250784		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250784C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.44G>A	X.37:g.154250784C>T	ENSP00000353393:p.Arg15Gln					F8_uc011mzx.1_Intron	p.R15Q	NM_000132	NP_000123	P00451	FA8_HUMAN			1	215	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		15					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.44G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	6.703	0.498421	0.12762	.	.	ENSG00000185010	ENST00000360256	D	0.99023	-5.34	5.18	-9.97	0.00440	.	3.009880	0.00702	N	0.000789	D	0.92899	0.7741	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	D	0.90327	0.4349	10	0.12430	T	0.62	2.6923	10.7513	0.46211	0.0:0.095:0.4027:0.5023	.	15	P00451	FA8_HUMAN	Q	15	ENSP00000353393:R15Q	ENSP00000353393:R15Q	R	-	2	0	F8	153903978	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-0.454000	0.06770	-2.294000	0.00663	-2.418000	0.00219	CGA		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	117	0	0	0	0	4	117				
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538					uc001dka.2		NA																	0					0						c.(91-102)CTGGCGCTGCGG>CGG		chitobiase, di-N-acetyl- precursor				865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85039999_85040007delGCAGCGCCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del					CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR	p.LAL31del	NM_004388	NP_004379	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	157_165	-			31_33					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.92_100delTGGCGCTGC	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		3	6	NA	NA	NA	NA	3	6	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50340985	50340986	+	Frame_Shift_Ins	INS	-	-	C	rs74793314		TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:50340985_50340986insC	ENST00000394697.2	+	15	2117_2118	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.A593fs|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.A593fs|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.A593fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	593					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CATCCCCCGGGCCCGCCACGAC	0.658																																						uc002egd.1		NA																	0				skin(1)	1						c.(1777-1779)GCCfs		adenylate cyclase 7	Bromocriptine(DB01200)																																			SO:0001589	frameshift_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50340985_50340986insC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1780dupC	16.37:g.50340988_50340988dupC	ENSP00000378187:p.Ala593fs					ADCY7_uc002egc.1_Frame_Shift_Ins_p.A593fs	p.A593fs	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	14	2045_2046	+		all_cancers(37;0.0127)	593			Cytoplasmic (Potential).		A0AVA6	Frame_Shift_Ins	INS	ENST00000394697.2	37	c.1777_1778insC	CCDS10741.1																																																																																				0.658	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			7	43	NA	NA	NA	NA	7	43	---	---	---	---
FAM192A	80011	broad.mit.edu	37	16	57206187	57206189	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chr16:57206187_57206189delTTC	ENST00000309137.8	-	4	580_582	c.322_324delGAA	c.(322-324)gaadel	p.E108del	FAM192A_ENST00000566077.1_In_Frame_Del_p.E31del|FAM192A_ENST00000389447.5_In_Frame_Del_p.E108del|FAM192A_ENST00000564108.1_In_Frame_Del_p.E108del|FAM192A_ENST00000569266.1_In_Frame_Del_p.E108del|FAM192A_ENST00000567439.1_In_Frame_Del_p.E108del	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	108						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GTTCTTTCAGTTCTTCTTCTCTT	0.404																																						uc010vhk.1		NA																	0					0						c.(322-324)GAAdel		NEFA-interacting nuclear protein NIP30																																				SO:0001651	inframe_deletion	80011					nucleus		g.chr16:57206187_57206189delTTC		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.322_324delGAA	16.37:g.57206193_57206195delTTC	ENSP00000335808:p.Glu108del					FAM192A_uc002ekz.3_In_Frame_Del_p.E108del|FAM192A_uc002ekv.3_In_Frame_Del_p.E31del|FAM192A_uc002ekw.3_In_Frame_Del_p.E108del|FAM192A_uc002ekx.3_In_Frame_Del_p.E108del|FAM192A_uc002eky.3_In_Frame_Del_p.E108del|FAM192A_uc010ccx.2_In_Frame_Del_p.E108del	p.E108del	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN			4	581_583	-			108						In_Frame_Del	DEL	ENST00000309137.8	37	c.322_324delGAA	CCDS42168.1																																																																																				0.404	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		9	108	NA	NA	NA	NA	9	108	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47308645	47308646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-6515-01A-21D-1870-08	TCGA-D6-6515-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	15c4d640-884c-4d55-897e-2f68314423fe	ab033f13-89a6-427b-8675-eb4228c502a5	g.chrX:47308645_47308646insT	ENST00000377065.4	-	5	1162_1163	c.523_524insA	c.(523-525)atafs	p.I175fs	ZNF41_ENST00000313116.7_Frame_Shift_Ins_p.I175fs|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Frame_Shift_Ins_p.I185fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACATGAATTATTTTTTCAATG	0.332																																						uc004dhs.3		NA																	0				ovary(3)	3						c.(649-651)ATAfs		zinc finger protein 41																																				SO:0001589	frameshift_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308645_47308646insT	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.524dupA	X.37:g.47308651_47308651dupT	ENSP00000366265:p.Ile175fs					ZNF41_uc004dhu.3_Frame_Shift_Ins_p.I209fs|ZNF41_uc004dht.3_Frame_Shift_Ins_p.I89fs|ZNF41_uc004dhv.3_Frame_Shift_Ins_p.I185fs|ZNF41_uc004dhw.3_Frame_Shift_Ins_p.I177fs|ZNF41_uc004dhy.3_Frame_Shift_Ins_p.I175fs|ZNF41_uc004dhx.3_Frame_Shift_Ins_p.I175fs|ZNF41_uc011mlm.1_Frame_Shift_Ins_p.I89fs	p.I217fs	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	716_717	-		all_lung(315;0.000129)	217					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Ins	INS	ENST00000377065.4	37	c.649_650insA	CCDS14279.1																																																																																				0.332	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		15	131	NA	NA	NA	NA	15	131	---	---	---	---
