#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
PAX7	5081	broad.mit.edu	37	1	19018401	19018401	+	Missense_Mutation	SNP	G	G	A	rs373331822		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:19018401G>A	ENST00000375375.3	+	5	1338	c.740G>A	c.(739-741)cGc>cAc	p.R247H	PAX7_ENST00000400661.3_Missense_Mutation_p.R245H|PAX7_ENST00000420770.2_Missense_Mutation_p.R247H	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	247					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R247L(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ATATACACCCGCGAGGAGCTG	0.607			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2		NA		Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	2	Substitution - Missense(2)		lung(2)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(739-741)CGC>CAC		paired box 7 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	42.0	38.0	40.0		740,740,734	4.8	1.0	1		40	0,8598		0,0,4299	no	missense,missense,missense	PAX7	NM_001135254.1,NM_002584.2,NM_013945.2	29,29,29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	247/506,247/521,245/519	19018401	1,13001	2202	4299	6501	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018401G>A	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.740G>A	1.37:g.19018401G>A	ENSP00000364524:p.Arg247His					PAX7_uc001baz.2_Missense_Mutation_p.R245H|PAX7_uc010oct.1_Missense_Mutation_p.R247H	p.R247H	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	1338	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	247			Homeobox.		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.740G>A	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047975	0.93740	2.27E-4	0.0	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.97529	-4.42;-4.42;-4.42	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.108536	0.64402	D	0.000018	D	0.99199	0.9722	H	0.99582	4.64	0.80722	D	1	D;D;D	0.89917	0.991;0.994;1.0	P;P;D	0.69479	0.79;0.686;0.964	D	0.98628	1.0670	10	0.87932	D	0	.	16.519	0.84308	0.0:0.0:1.0:0.0	.	247;245;247	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	H	247;247;245	ENSP00000364524:R247H;ENSP00000403389:R247H;ENSP00000383502:R245H	ENSP00000364524:R247H	R	+	2	0	PAX7	18890988	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.823000	0.99369	2.243000	0.73865	0.561000	0.74099	CGC		0.607	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		8	16	0	0	0	0	8	16				
HSPG2	3339	broad.mit.edu	37	1	22191363	22191363	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:22191363C>T	ENST00000374695.3	-	36	4678	c.4599G>A	c.(4597-4599)ccG>ccA	p.P1533P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1533	Laminin EGF-like 9; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGTAGCCTGGCGGGCAGCGGC	0.687																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(4597-4599)CCG>CCA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)																																			SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22191363C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4599G>A	1.37:g.22191363C>T						HSPG2_uc009vqd.2_Silent_p.P1534P	p.P1533P	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	36	4639	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1533			Laminin EGF-like 9; second part.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.4599G>A	CCDS30625.1																																																																																				0.687	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	11	0	0	0	0	4	11				
HSPG2	3339	broad.mit.edu	37	1	22205082	22205082	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:22205082C>A	ENST00000374695.3	-	19	2625	c.2546G>T	c.(2545-2547)cGc>cTc	p.R849L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	849	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTCACAGCGGCGGCCAGTGTA	0.632																																						uc001bfj.2		NA																	0		p.R849R(1)		ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2545-2547)CGC>CTC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						42.0	44.0	44.0					1																	22205082		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22205082C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2546G>T	1.37:g.22205082C>A	ENSP00000363827:p.Arg849Leu					HSPG2_uc009vqd.2_Missense_Mutation_p.R850L	p.R849L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	19	2586	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	849			Laminin EGF-like 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2546G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086646	0.76642	.	.	ENSG00000142798	ENST00000374695	T	0.63096	-0.02	5.44	5.44	0.79542	EGF-like, laminin (4);	0.000000	0.38605	N	0.001640	T	0.80555	0.4645	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.83111	-0.0123	10	0.87932	D	0	.	16.7581	0.85505	0.0:1.0:0.0:0.0	.	849	P98160	PGBM_HUMAN	L	849	ENSP00000363827:R849L	ENSP00000363827:R849L	R	-	2	0	HSPG2	22077669	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	7.001000	0.76297	2.530000	0.85305	0.555000	0.69702	CGC		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		8	31	1	0	0.000274275	0.000293693	8	31				
TAL1	6886	broad.mit.edu	37	1	47689752	47689752	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:47689752C>T	ENST00000294339.3	-	3	1041	c.465G>A	c.(463-465)ccG>ccA	p.P155P	TAL1_ENST00000371883.3_Silent_p.P157P|TAL1_ENST00000459729.1_5'Flank|TAL1_ENST00000371884.2_Silent_p.P155P|RP1-18D14.7_ENST00000422216.1_RNA	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	155					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAAGGCATCCGGCTCCCCAA	0.562			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		0				lung(1)	1						c.(463-465)CCG>CCA		T-cell acute lymphocytic leukemia 1							138.0	125.0	130.0					1																	47689752		2203	4300	6503	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47689752C>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.465G>A	1.37:g.47689752C>T						TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.P155P|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA	p.P155P	NM_003189	NP_003180	P17542	TAL1_HUMAN			3	1042	-			155					D3DQ24	Silent	SNP	ENST00000294339.3	37	c.465G>A	CCDS547.1																																																																																				0.562	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		23	66	0	0	0	0	23	66				
OMA1	115209	broad.mit.edu	37	1	59002204	59002204	+	Nonsense_Mutation	SNP	G	G	T	rs561716206		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:59002204G>T	ENST00000371226.3	-	3	823	c.710C>A	c.(709-711)tCg>tAg	p.S237*	OMA1_ENST00000358603.2_Nonsense_Mutation_p.S237*|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	237					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTCCAGTTCCGATAAAAGTCT	0.343																																						uc001cyy.2		NA																	0				large_intestine(1)	1						c.(709-711)TCG>TAG		OMA1 homolog, zinc metallopeptidase precursor							63.0	65.0	64.0					1																	59002204		2202	4300	6502	SO:0001587	stop_gained	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59002204G>T	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.710C>A	1.37:g.59002204G>T	ENSP00000360270:p.Ser237*					DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Nonsense_Mutation_p.S237*|OMA1_uc009vzz.2_Nonsense_Mutation_p.S237*	p.S237*	NM_145243	NP_660286	Q96E52	OMA1_HUMAN			3	798	-	all_cancers(7;6.54e-05)		237					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	ENST00000371226.3	37	c.710C>A	CCDS608.1	.	.	.	.	.	.	.	.	.	.	g	26.6	4.757687	0.89843	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139	.	.	.	5.39	5.39	0.77823	.	0.287528	0.34223	N	0.004153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0261	19.3791	0.94525	0.0:0.0:1.0:0.0	.	.	.	.	X	237	.	ENSP00000351417:S237X	S	-	2	0	OMA1	58774792	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.875000	0.63072	2.818000	0.97014	0.552000	0.68991	TCG		0.343	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		12	30	1	0	5.17e-11	5.79e-11	12	30				
FCRL5	83416	broad.mit.edu	37	1	157509002	157509002	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:157509002C>T	ENST00000361835.3	-	7	1433	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T|FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	426	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCAGAGTTGGCCGACCTACGC	0.572																																						uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1276-1278)GCC>ACC		Fc receptor-like 5							78.0	67.0	71.0					1																	157509002		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509002C>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1276G>A	1.37:g.157509002C>T	ENSP00000354691:p.Ala426Thr					FCRL5_uc009wsm.2_Missense_Mutation_p.A426T|FCRL5_uc010phv.1_Missense_Mutation_p.A426T|FCRL5_uc010phw.1_Missense_Mutation_p.A341T|FCRL5_uc001fqv.1_Missense_Mutation_p.A426T|FCRL5_uc010phx.1_Missense_Mutation_p.A177T	p.A426T	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			7	1434	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	426			Extracellular (Potential).|Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1276G>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498877	0.26861	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	3.17	-1.43	0.08884	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06600	0.0169	M	0.64260	1.97	0.09310	N	1	B;P;B;D;P;D	0.53312	0.302;0.935;0.257;0.959;0.537;0.959	B;P;B;P;B;P	0.47402	0.205;0.546;0.062;0.523;0.155;0.542	T	0.26883	-1.0090	9	0.26408	T	0.33	.	7.7082	0.28663	0.0:0.7254:0.0:0.2746	.	457;341;426;426;426;426	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	T	426;426;426;341;426	ENSP00000354691:A426T;ENSP00000349434:A426T;ENSP00000357173:A426T;ENSP00000357174:A341T;ENSP00000357172:A426T	ENSP00000349434:A426T	A	-	1	0	FCRL5	155775626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.051000	0.03507	-0.424000	0.07382	-0.379000	0.06801	GCC		0.572	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		3	41	0	0	0	0	3	41				
LHX9	56956	broad.mit.edu	37	1	197889131	197889131	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:197889131C>T	ENST00000367387.4	+	2	629	c.204C>T	c.(202-204)ccC>ccT	p.P68P	LHX9_ENST00000337020.2_Silent_p.P68P|LHX9_ENST00000561173.1_Silent_p.P74P|LHX9_ENST00000367391.1_Silent_p.P59P|LHX9_ENST00000367390.3_Silent_p.P59P	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	68					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGGAGAAGCCCGCCCTGTGCG	0.642																																						uc001guk.1		NA																	0				ovary(1)	1						c.(202-204)CCC>CCT		LIM homeobox 9 isoform 1							75.0	87.0	83.0					1																	197889131		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197889131C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.204C>T	1.37:g.197889131C>T						LHX9_uc001gui.1_Silent_p.P59P|LHX9_uc001guj.1_Silent_p.P74P	p.P68P	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			2	641	+			68					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.204C>T	CCDS1393.1																																																																																				0.642	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		30	81	0	0	0	0	30	81				
NR5A2	2494	broad.mit.edu	37	1	200017721	200017721	+	Silent	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:200017721G>T	ENST00000367362.3	+	5	1131	c.885G>T	c.(883-885)acG>acT	p.T295T	NR5A2_ENST00000236914.3_Silent_p.T249T|NR5A2_ENST00000544748.1_Silent_p.T223T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	295					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTTACCAGACGAGCTCTCCAG	0.498																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(883-885)ACG>ACT		nuclear receptor subfamily 5, group A, member 2							79.0	78.0	78.0					1																	200017721		2203	4300	6503	SO:0001819	synonymous_variant	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017721G>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.885G>T	1.37:g.200017721G>T						NR5A2_uc001gvc.2_Silent_p.T249T|NR5A2_uc009wzh.2_Silent_p.T255T|NR5A2_uc010pph.1_Silent_p.T223T	p.T295T	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	1091	+	Prostate(682;0.19)		295					B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	c.885G>T	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	G	4.902	0.167710	0.09339	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.62672	0.2447	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78008	-0.2372	4	.	.	.	.	17.5074	0.87749	0.1414:0.6468:0.2118:0.0	.	.	.	.	L	216	.	.	R	+	2	0	NR5A2	198284344	0.001000	0.12720	0.080000	0.20451	0.906000	0.53458	-1.536000	0.02208	-3.389000	0.00173	-2.398000	0.00225	CGA		0.498	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			24	52	1	0	1.11e-09	1.24e-09	24	52				
FAM71A	149647	broad.mit.edu	37	1	212798505	212798505	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:212798505G>A	ENST00000294829.3	+	1	717	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	96						nucleus (GO:0005634)		p.E96K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCGGCTGCGAAGAGTATGC	0.572																																						uc001hjk.2		NA																	1	Substitution - Missense(1)		prostate(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(286-288)GAA>AAA		hypothetical protein LOC149647							62.0	58.0	59.0					1																	212798505		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798505G>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.286G>A	1.37:g.212798505G>A	ENSP00000294829:p.Glu96Lys					uc010pth.1_Intron	p.E96K	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	690	+			96					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.286G>A	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.829027	0.16749	.	.	ENSG00000162771	ENST00000294829	T	0.04234	3.67	4.29	2.39	0.29439	.	1.690020	0.03603	N	0.233653	T	0.07279	0.0184	M	0.68317	2.08	0.09310	N	1	P	0.37061	0.58	B	0.29077	0.098	T	0.38178	-0.9673	10	0.52906	T	0.07	-8.9467	5.967	0.19330	0.1045:0.1933:0.7022:0.0	.	96	Q8IYT1	FA71A_HUMAN	K	96	ENSP00000294829:E96K	ENSP00000294829:E96K	E	+	1	0	FAM71A	210865128	0.044000	0.20184	0.003000	0.11579	0.013000	0.08279	0.956000	0.29202	0.569000	0.29329	0.557000	0.71058	GAA		0.572	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		5	46	0	0	0	0	5	46				
NEBL	10529	broad.mit.edu	37	10	21106596	21106596	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:21106596C>T	ENST00000377122.4	-	21	2477	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	694					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCAGTTCCCCGTTGAAGTTC	0.383																																						uc001iqi.2		NA																	0				ovary(2)	2						c.(2080-2082)CGG>CAG		nebulette sarcomeric isoform							177.0	156.0	163.0					10																	21106596		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21106596C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2081G>A	10.37:g.21106596C>T	ENSP00000366326:p.Arg694Gln					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.R694Q	NM_006393	NP_006384	O76041	NEBL_HUMAN			21	2478	-			694			Nebulin 20.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2081G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	3.279	-0.147390	0.06627	.	.	ENSG00000078114	ENST00000377122	T	0.05199	3.48	4.98	2.63	0.31362	.	0.504329	0.19620	N	0.109923	T	0.02688	0.0081	N	0.04162	-0.26	0.26802	N	0.96919	B	0.02656	0.0	B	0.04013	0.001	T	0.45512	-0.9256	10	0.17832	T	0.49	.	7.4685	0.27334	0.0:0.194:0.0:0.806	.	694	O76041	NEBL_HUMAN	Q	694	ENSP00000366326:R694Q	ENSP00000366326:R694Q	R	-	2	0	NEBL	21146602	0.281000	0.24258	0.901000	0.35422	0.161000	0.22273	1.562000	0.36353	0.869000	0.35703	-0.312000	0.09012	CGG		0.383	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		15	56	0	0	0	0	15	56				
RBP3	5949	broad.mit.edu	37	10	48390514	48390514	+	Missense_Mutation	SNP	G	G	A	rs150932600		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:48390514G>A	ENST00000224600.4	-	1	477	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	122	4 X approximate tandem repeats.		R -> H. {ECO:0000269|PubMed:19074801}.		lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCATGGCGGAGGCCCCTT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18840	0.0		0.001	False		,,,				2504	0.0					uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(364-366)CGC>TGC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						73.0	83.0	79.0					10																	48390514		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390514G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.364C>T	10.37:g.48390514G>A	ENSP00000224600:p.Arg122Cys						p.R122C	NM_002900	NP_002891	P10745	RET3_HUMAN			1	478	-			122			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.364C>T	CCDS7218.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.75	3.208285	0.58343	.	.	ENSG00000107618	ENST00000224600	T	0.64803	-0.12	5.7	2.6	0.31112	Interphotoreceptor retinol-binding, N-terminal (1);Interphotoreceptor retinol-binding (1);	0.600769	0.18375	N	0.143133	T	0.75568	0.3867	M	0.77103	2.36	0.18873	N	0.999985	D	0.89917	1.0	D	0.85130	0.997	T	0.62877	-0.6761	10	0.87932	D	0	-11.5478	8.3032	0.32027	0.0:0.1145:0.387:0.4984	.	122	P10745	RET3_HUMAN	C	122	ENSP00000224600:R122C	ENSP00000224600:R122C	R	-	1	0	RBP3	48010520	0.600000	0.26899	0.003000	0.11579	0.946000	0.59487	0.782000	0.26788	1.378000	0.46305	0.650000	0.86243	CGC		0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		29	70	0	0	0	0	29	70				
PLA2G12B	84647	broad.mit.edu	37	10	74700977	74700977	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:74700977G>C	ENST00000373032.3	-	3	508	c.416C>G	c.(415-417)tCg>tGg	p.S139W		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	139					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAGCAGATCGAGTGGAGACA	0.498																																						uc001jtf.1		NA																	0				ovary(1)	1						c.(415-417)TCG>TGG		phospholipase A2, group XIIB precursor							202.0	185.0	190.0					10																	74700977		2203	4300	6503	SO:0001583	missense	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74700977G>C	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.416C>G	10.37:g.74700977G>C	ENSP00000362123:p.Ser139Trp					PLA2G12B_uc009xqt.1_Missense_Mutation_p.S49W|PLA2G12B_uc010qjz.1_Missense_Mutation_p.S139W	p.S139W	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN			3	483	-	Prostate(51;0.0198)		139					B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	ENST00000373032.3	37	c.416C>G	CCDS7319.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659528	0.67586	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.51	5.51	0.81932	Phospholipase A2 (2);	0.141505	0.64402	D	0.000004	T	0.80204	0.4580	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.988	T	0.81949	-0.0699	9	0.87932	D	0	-5.1476	19.4178	0.94709	0.0:0.0:1.0:0.0	.	139;139	B7ZL23;Q9BX93	.;PG12B_HUMAN	W	139	.	ENSP00000362123:S139W	S	-	2	0	PLA2G12B	74370983	1.000000	0.71417	0.959000	0.39883	0.838000	0.47535	3.143000	0.50608	2.601000	0.87937	0.655000	0.94253	TCG		0.498	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		25	70	0	0	0	0	25	70				
ADRB1	153	broad.mit.edu	37	10	115804437	115804437	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:115804437G>A	ENST00000369295.2	+	1	632	c.546G>A	c.(544-546)gtG>gtA	p.V182V		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	182					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	TGTGCACCGTGTGGGCCATCT	0.692																																						uc001lba.2		NA																	0					0						c.(544-546)GTG>GTA		beta-1-adrenergic receptor	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						43.0	43.0	43.0					10																	115804437		2200	4298	6498	SO:0001819	synonymous_variant	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804437G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.546G>A	10.37:g.115804437G>A							p.V182V	NM_000684	NP_000675	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	632	+		Colorectal(252;0.172)|Breast(234;0.188)	182			Helical; Name=4; (By similarity).		B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Silent	SNP	ENST00000369295.2	37	c.546G>A	CCDS7586.1																																																																																				0.692	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			11	20	0	0	0	0	11	20				
CYP2R1	120227	broad.mit.edu	37	11	14913703	14913703	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:14913703C>T	ENST00000334636.5	-	1	95	c.49G>A	c.(49-51)Gcg>Acg	p.A17T	CYP2R1_ENST00000526489.1_5'Flank|CYP2R1_ENST00000532378.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	17					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AGGAAGAGCGCGCCGCCGAGC	0.701																																					NSCLC(173;1584 2058 26117 29365 41534)	uc001mlr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(49-51)GCG>ACG		cytochrome P450, family 2, subfamily R,	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						11.0	15.0	14.0					11																	14913703		2167	4245	6412	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14913703C>T	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.49G>A	11.37:g.14913703C>T	ENSP00000334592:p.Ala17Thr					CYP2R1_uc001mlo.2_5'Flank|CYP2R1_uc001mlp.2_5'Flank|CYP2R1_uc001mlq.2_5'Flank	p.A17T	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN			1	49	-			17					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.49G>A	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905073	0.52333	.	.	ENSG00000186104	ENST00000334636	T	0.70869	-0.52	5.12	-0.676	0.11361	.	0.974140	0.08449	N	0.944243	T	0.49236	0.1545	N	0.14661	0.345	0.09310	N	1	B	0.26363	0.147	B	0.18871	0.023	T	0.25847	-1.0120	10	0.25751	T	0.34	.	9.2258	0.37405	0.3813:0.372:0.2467:0.0	.	17	Q6VVX0	CP2R1_HUMAN	T	17	ENSP00000334592:A17T	ENSP00000334592:A17T	A	-	1	0	CYP2R1	14870279	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.687000	0.05156	0.015000	0.14971	-0.475000	0.04921	GCG		0.701	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		10	17	0	0	0	0	10	17				
ANO5	203859	broad.mit.edu	37	11	22272376	22272376	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:22272376C>T	ENST00000324559.8	+	11	1420	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	368					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAAATAGTACGTGTTTGGCT	0.368																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1102-1104)ACG>ATG		anoctamin 5 isoform a							270.0	227.0	242.0					11																	22272376		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22272376C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1103C>T	11.37:g.22272376C>T	ENSP00000315371:p.Thr368Met					ANO5_uc001mqj.2_Missense_Mutation_p.T367M	p.T368M	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			11	1420	+			368			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1103C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545927	0.65198	.	.	ENSG00000171714	ENST00000324559	T	0.73047	-0.71	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86889	0.2047	10	0.51188	T	0.08	.	19.3645	0.94456	0.0:1.0:0.0:0.0	.	368	Q75V66	ANO5_HUMAN	M	368	ENSP00000315371:T368M	ENSP00000315371:T368M	T	+	2	0	ANO5	22228952	1.000000	0.71417	0.104000	0.21259	0.499000	0.33736	7.340000	0.79292	2.565000	0.86533	0.557000	0.71058	ACG		0.368	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		39	49	0	0	0	0	39	49				
OR4C6	219432	broad.mit.edu	37	11	55433179	55433179	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:55433179G>T	ENST00000314259.3	+	1	566	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATGTGATTTGTTTCAGTTGT	0.433																																						uc001nht.3		NA																	0				skin(2)	2						c.(535-537)TTG>TTT		olfactory receptor, family 4, subfamily C,							131.0	121.0	125.0					11																	55433179		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433179G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.537G>T	11.37:g.55433179G>T	ENSP00000324769:p.Leu179Phe					OR4C6_uc010rik.1_Missense_Mutation_p.L179F	p.L179F	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	802	+			179			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.537G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464892	0.26335	.	.	ENSG00000181903	ENST00000314259	T	0.38077	1.16	4.07	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.265961	0.20031	N	0.100719	T	0.32823	0.0842	L	0.51853	1.615	0.20074	N	0.999932	B	0.24368	0.102	B	0.33339	0.162	T	0.34675	-0.9819	10	0.66056	D	0.02	.	7.1109	0.25390	0.0:0.1649:0.5039:0.3312	.	179	Q8NH72	OR4C6_HUMAN	F	179	ENSP00000324769:L179F	ENSP00000324769:L179F	L	+	3	2	OR4C6	55189755	0.000000	0.05858	0.990000	0.47175	0.474000	0.32979	-3.823000	0.00357	0.676000	0.31285	0.543000	0.68304	TTG		0.433	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		50	63	1	0	3.68e-26	4.2e-26	50	63				
TNKS1BP1	85456	broad.mit.edu	37	11	57088123	57088123	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:57088123A>C	ENST00000532437.1	-	2	469	c.158T>G	c.(157-159)cTg>cGg	p.L53R	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L53R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	53	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTTGGCAGGCAGGGCTGGCTT	0.647																																						uc001njr.2		NA																	0				skin(1)	1						c.(157-159)CTG>CGG		tankyrase 1-binding protein 1							14.0	17.0	16.0					11																	57088123		2176	4254	6430	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57088123A>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.158T>G	11.37:g.57088123A>C	ENSP00000437271:p.Leu53Arg					TNKS1BP1_uc001njs.2_Missense_Mutation_p.L53R|TNKS1BP1_uc009ymd.1_5'UTR	p.L53R	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			2	470	-		all_epithelial(135;0.21)	53			Arg/Glu/Lys/Pro-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.158T>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993818	0.74703	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.46819	0.86;0.86	4.58	4.58	0.56647	.	0.000000	0.30658	N	0.009152	T	0.50820	0.1638	N	0.24115	0.695	0.30877	N	0.731819	D	0.76494	0.999	D	0.74674	0.984	T	0.51132	-0.8744	10	0.25751	T	0.34	-10.1378	12.3266	0.55013	1.0:0.0:0.0:0.0	.	53	Q9C0C2	TB182_HUMAN	R	53	ENSP00000350990:L53R;ENSP00000437271:L53R	ENSP00000350990:L53R	L	-	2	0	TNKS1BP1	56844699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.252000	0.65445	1.902000	0.55061	0.460000	0.39030	CTG		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		5	26	0	0	0	0	5	26				
SHANK2	22941	broad.mit.edu	37	11	70332944	70332944	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:70332944C>T	ENST00000423696.2	-	15	2353	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	SHANK2_ENST00000409161.1_Missense_Mutation_p.E556K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E557K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1153K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	773					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.E1153K(1)|p.E557K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTTCGGGCTCCCTGGGCGTG	0.677																																						uc001oqc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3454-3456)GAG>AAG		SH3 and multiple ankyrin repeat domains 2							32.0	37.0	35.0					11																	70332944		2198	4288	6486	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332944C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2317G>A	11.37:g.70332944C>T	ENSP00000394536:p.Glu773Lys					SHANK2_uc010rqn.1_Missense_Mutation_p.E564K|SHANK2_uc001opz.2_Missense_Mutation_p.E557K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.E1152K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3532	-			773					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3454G>A		.	.	.	.	.	.	.	.	.	.	C	3.392	-0.124007	0.06795	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.05	4.1	0.47936	.	0.511924	0.23165	N	0.051198	T	0.47173	0.1431	L	0.54323	1.7	0.80722	D	1	B;D;B	0.57899	0.376;0.981;0.239	B;P;B	0.46026	0.114;0.501;0.167	T	0.38308	-0.9667	10	0.21540	T	0.41	.	15.0614	0.71958	0.0:0.8572:0.1428:0.0	.	773;1152;557	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	557;556;431;1153;773;791;776	ENSP00000399423:E557K;ENSP00000386491:E556K;ENSP00000402944:E431K;ENSP00000345193:E1153K;ENSP00000394536:E773K;ENSP00000294018:E776K	ENSP00000294018:E776K	E	-	1	0	SHANK2	70010592	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.585000	0.53943	1.055000	0.40461	0.561000	0.74099	GAG		0.677	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		21	50	0	0	0	0	21	50				
NUMA1	4926	broad.mit.edu	37	11	71721849	71721849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:71721849G>A	ENST00000393695.3	-	17	5033	c.4702C>T	c.(4702-4704)Cag>Tag	p.Q1568*	NUMA1_ENST00000351960.6_Nonsense_Mutation_p.Q432*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q1554*	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCTGCTGCTGCACCTTGCTG	0.592			T	RARA	APL																																	uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(4702-4704)CAG>TAG		nuclear mitotic apparatus protein 1							198.0	200.0	199.0					11																	71721849		2200	4293	6493	SO:0001587	stop_gained	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71721849G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4702C>T	11.37:g.71721849G>A	ENSP00000377298:p.Gln1568*					NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Nonsense_Mutation_p.Q1117*|NUMA1_uc001ork.1_Nonsense_Mutation_p.Q432*|NUMA1_uc001orm.1_Nonsense_Mutation_p.Q1554*|NUMA1_uc001orn.2_Nonsense_Mutation_p.Q1131*	p.Q1568*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			17	4874	-			1568			Potential.			Nonsense_Mutation	SNP	ENST00000393695.3	37	c.4702C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	46	12.915008	0.99706	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.	.	.	4.38	4.38	0.52667	.	0.275760	0.26463	N	0.024222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	17.1145	0.86685	0.0:0.0:1.0:0.0	.	.	.	.	X	432;1554;1568;1117;523	.	ENSP00000260051:Q432X	Q	-	1	0	NUMA1	71399497	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.252000	0.51461	2.423000	0.82170	0.561000	0.74099	CAG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			67	221	0	0	0	0	67	221				
KCNJ5	3762	broad.mit.edu	37	11	128781352	128781352	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:128781352G>A	ENST00000338350.4	+	3	536	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	KCNJ5_ENST00000529694.1_Missense_Mutation_p.V62M|KCNJ5_ENST00000533599.1_Missense_Mutation_p.V62M			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	62					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CAAGTGCAACGTGCACCACGG	0.607																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NA																	0				skin(1)	1						c.(184-186)GTG>ATG		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						127.0	103.0	111.0					11																	128781352		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781352G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.184G>A	11.37:g.128781352G>A	ENSP00000339960:p.Val62Met					KCNJ5_uc009zck.2_Missense_Mutation_p.V62M|KCNJ5_uc001qew.2_Missense_Mutation_p.V62M	p.V62M	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	498	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	62			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.184G>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829652	0.91036	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95949	-3.86;-3.86;-3.86	5.34	5.34	0.76211	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	10	0.87932	D	0	.	19.0605	0.93091	0.0:0.0:1.0:0.0	.	62	P48544	IRK5_HUMAN	M	62	ENSP00000433295:V62M;ENSP00000339960:V62M;ENSP00000434266:V62M	ENSP00000339960:V62M	V	+	1	0	KCNJ5	128286562	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.869000	0.99810	2.505000	0.84491	0.650000	0.86243	GTG		0.607	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		28	66	0	0	0	0	28	66				
CACNA1C	775	broad.mit.edu	37	12	2566851	2566851	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:2566851C>T	ENST00000347598.4	+	5	736	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R246W|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R246W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R246W	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	246					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGCCCCCTGCGGCTGGTGTC	0.567																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(736-738)CGG>TGG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						165.0	186.0	179.0					12																	2566851		2141	4240	6381	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566851C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.736C>T	12.37:g.2566851C>T	ENSP00000266376:p.Arg246Trp					CACNA1C_uc009zdv.1_Missense_Mutation_p.R246W|CACNA1C_uc001qkb.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkc.2_Missense_Mutation_p.R246W|CACNA1C_uc001qke.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkf.2_Missense_Mutation_p.R246W|CACNA1C_uc001qjz.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkd.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkg.2_Missense_Mutation_p.R246W|CACNA1C_uc009zdw.1_Missense_Mutation_p.R246W|CACNA1C_uc001qkh.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkl.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkn.2_Missense_Mutation_p.R246W|CACNA1C_uc001qko.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkp.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkr.2_Missense_Mutation_p.R246W|CACNA1C_uc001qku.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkq.2_Missense_Mutation_p.R246W|CACNA1C_uc001qks.2_Missense_Mutation_p.R246W|CACNA1C_uc001qkt.2_Missense_Mutation_p.R246W|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	p.R246W	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	1049	+			246			I.|Helical; Name=S4 of repeat I; (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.736C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969060	0.53614	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	4.15	1.17	0.20885	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.99916	4.945	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.997;1.0;0.997;0.999;0.995;0.999;0.999;1.0;0.999;0.996;0.999;1.0;0.999;1.0;0.992;0.999;0.999;0.995;0.995	D	0.98045	1.0384	10	0.87932	D	0	.	12.6477	0.56744	0.5791:0.4208:0.0:0.0	.	246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;246;87	ENSP00000336982:R246W;ENSP00000382563:R246W;ENSP00000437936:R246W;ENSP00000382552:R246W;ENSP00000382547:R246W;ENSP00000382506:R246W;ENSP00000382530:R246W;ENSP00000382546:R246W;ENSP00000382500:R246W;ENSP00000382549:R246W;ENSP00000266376:R246W;ENSP00000382515:R246W;ENSP00000382510:R246W;ENSP00000341092:R246W;ENSP00000382537:R246W;ENSP00000329877:R246W;ENSP00000382557:R246W;ENSP00000385724:R246W;ENSP00000382512:R246W;ENSP00000382542:R246W;ENSP00000382526:R246W;ENSP00000385896:R246W;ENSP00000382504:R246W	ENSP00000323129:R87W	R	+	1	2	CACNA1C	2437112	1.000000	0.71417	0.993000	0.49108	0.626000	0.37791	1.407000	0.34657	0.040000	0.15660	-0.309000	0.09137	CGG		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		71	187	0	0	0	0	71	187				
DYRK4	8798	broad.mit.edu	37	12	4705363	4705363	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:4705363G>A	ENST00000540757.2	+	5	491	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	DYRK4_ENST00000010132.5_Missense_Mutation_p.G111R|DYRK4_ENST00000543431.1_Missense_Mutation_p.G111R	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAGACAATCGGGAAGGGGTC	0.542																																						uc001qmx.2		NA																	0				lung(2)|skin(1)	3						c.(331-333)GGG>AGG		dual-specificity tyrosine-(Y)-phosphorylation							141.0	143.0	142.0					12																	4705363		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705363G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.331G>A	12.37:g.4705363G>A	ENSP00000441755:p.Gly111Arg					DYRK4_uc009zeh.1_Missense_Mutation_p.G226R|DYRK4_uc001qmy.1_Missense_Mutation_p.G111R	p.G111R	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		5	491	+			111			ATP (By similarity).|Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.331G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693562	0.88735	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95354	0.8492	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97137	0.9822	10	0.87932	D	0	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	226;111;111	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	R	226;111;111;111	ENSP00000437534:G226R;ENSP00000441755:G111R;ENSP00000010132:G111R;ENSP00000439697:G111R	ENSP00000010132:G111R	G	+	1	0	DYRK4	4575624	1.000000	0.71417	0.936000	0.37596	0.573000	0.36030	9.598000	0.98277	2.629000	0.89072	0.655000	0.94253	GGG		0.542	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			49	85	0	0	0	0	49	85				
MLF2	8079	broad.mit.edu	37	12	6857986	6857986	+	Missense_Mutation	SNP	C	C	T	rs71450169		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:6857986C>T	ENST00000203630.5	-	8	1366	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MLF2_ENST00000435120.1_Missense_Mutation_p.R241Q|MLF2_ENST00000539187.1_Missense_Mutation_p.R241Q|MLF2_ENST00000542154.1_Missense_Mutation_p.R241Q|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	241					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						GCGGGACTGTCGGGAAGGGGA	0.687																																						uc010sfi.1		NA																	0				large_intestine(1)	1						c.(721-723)CGA>CAA		myeloid leukemia factor 2							44.0	52.0	49.0					12																	6857986		2192	4266	6458	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6857986C>T	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.722G>A	12.37:g.6857986C>T	ENSP00000203630:p.Arg241Gln					MLF2_uc001qqp.2_Missense_Mutation_p.R241Q|MLF2_uc009zey.1_Missense_Mutation_p.R241Q	p.R241Q	NM_005439	NP_005430	Q15773	MLF2_HUMAN			8	785	-			241						Missense_Mutation	SNP	ENST00000203630.5	37	c.722G>A	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836557	0.91117	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	.	0.202328	0.42420	D	0.000703	T	0.62744	0.2453	N	0.24115	0.695	0.47441	D	0.999428	D	0.69078	0.997	D	0.67725	0.953	T	0.59669	-0.7411	9	0.24483	T	0.36	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	241	Q15773	MLF2_HUMAN	Q	241	.	ENSP00000203630:R241Q	R	-	2	0	MLF2	6728247	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.821000	0.62679	2.365000	0.80145	0.491000	0.48974	CGA		0.687	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			7	81	0	0	0	0	7	81				
TENC1	23371	broad.mit.edu	37	12	53450797	53450797	+	Splice_Site	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:53450797G>A	ENST00000314250.6	+	11	1052	c.762G>A	c.(760-762)ggG>ggA	p.G254G	TENC1_ENST00000451358.1_Splice_Site_p.G254G|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000552570.1_Splice_Site_p.G254G|TENC1_ENST00000379902.3_Splice_Site_p.G130G|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000314276.3_Splice_Site_p.G264G|TENC1_ENST00000549700.1_Splice_Site_p.G254G|TENC1_ENST00000546602.1_Splice_Site_p.G254G	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	254	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTATCCCCAGGGCGGACCAGG	0.577																																						uc001sbp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(760-762)GGG>GGA		tensin like C1 domain containing phosphatase							39.0	34.0	36.0					12																	53450797		2203	4300	6503	SO:0001630	splice_region_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53450797G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.762-1G>A	12.37:g.53450797G>A						uc001sbk.1_5'Flank|TENC1_uc001sbl.2_Silent_p.G130G|TENC1_uc001sbn.2_Silent_p.G264G|TENC1_uc001sbo.1_Silent_p.G254G|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	p.G254G	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			11	897	+			254			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.762G>A	CCDS8843.1																																																																																				0.577	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	Silent	3	16	0	0	0	0	3	16				
SMUG1	23583	broad.mit.edu	37	12	54576249	54576249	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:54576249G>A	ENST00000508394.2	-	3	506	c.444C>T	c.(442-444)ctC>ctT	p.L148L	SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Silent_p.L148L|SMUG1_ENST00000401977.2_Silent_p.L148L|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	148				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						GCTGTCCACAGAGGTTCCGGA	0.567								Base excision repair (BER), DNA glycosylases																														uc001sff.1		NA																	0					0						c.(442-444)CTC>CTT	BER_DNA_glycosylases	single-strand-selective monofunctional							83.0	82.0	82.0					12																	54576249		2203	4300	6503	SO:0001819	synonymous_variant	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576249G>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.444C>T	12.37:g.54576249G>A						SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.L148L|SMUG1_uc009znf.1_Silent_p.L148L|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	p.L148L	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN			4	573	-			148	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Silent	SNP	ENST00000508394.2	37	c.444C>T	CCDS8874.1																																																																																				0.567	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		26	70	0	0	0	0	26	70				
CDK4	1019	broad.mit.edu	37	12	58143283	58143283	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:58143283G>A	ENST00000257904.6	-	6	1002	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	CDK4_ENST00000312990.6_Silent_p.L95L|CDK4_ENST00000540325.1_Missense_Mutation_p.L93F|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCACAGAAGAGAGGCCTAAGG	0.403			Mis			melanoma			Hereditary Melanoma																													uc001spv.2		NA	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(637-639)CTC>TTC		cyclin-dependent kinase 4							79.0	80.0	80.0					12																	58143283		2203	4300	6503	SO:0001583	missense	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143283G>A	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.637C>T	12.37:g.58143283G>A	ENSP00000257904:p.Leu213Phe					CDK4_uc010ssb.1_Missense_Mutation_p.L93F|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	p.L213F	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		6	864	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		213			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.637C>T	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980554	0.74474	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81004	-0.1129	10	0.87932	D	0	.	17.3337	0.87274	0.0:0.0:1.0:0.0	.	213	P11802	CDK4_HUMAN	F	213;93;139;139	ENSP00000257904:L213F;ENSP00000439076:L93F;ENSP00000447779:L139F;ENSP00000447274:L139F	ENSP00000257904:L213F	L	-	1	0	CDK4	56429550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.780000	0.55386	2.826000	0.97356	0.655000	0.94253	CTC		0.403	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		7	21	0	0	0	0	7	21				
NAV3	89795	broad.mit.edu	37	12	78583919	78583919	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:78583919G>A	ENST00000397909.2	+	34	6384	c.6211G>A	c.(6211-6213)Gaa>Aaa	p.E2071K	NAV3_ENST00000266692.7_Missense_Mutation_p.E1872K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2049K|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.E2049K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2071						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAACTTGCTGAATATGTAAT	0.373										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6211-6213)GAA>AAA		neuron navigator 3							67.0	61.0	63.0					12																	78583919		1874	4101	5975	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583919G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6211G>A	12.37:g.78583919G>A	ENSP00000381007:p.Glu2071Lys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.E2049K|NAV3_uc010sub.1_Missense_Mutation_p.E1528K|NAV3_uc009zsf.2_Missense_Mutation_p.E880K	p.E2071K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			34	6384	+			2071					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6211G>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.410790	0.83340	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	4.9	4.9	0.64082	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.41294	U	0.000917	D	0.90803	0.7112	L	0.45228	1.405	0.80722	D	1	D;P;D;P	0.67145	0.995;0.728;0.996;0.884	D;B;D;P	0.70487	0.969;0.165;0.935;0.503	D	0.90634	0.4569	10	0.45353	T	0.12	-19.0616	18.4393	0.90660	0.0:0.0:1.0:0.0	.	2049;1872;2071;2049	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	K	2049;2071;2049;1872;663;671	ENSP00000446132:E2049K;ENSP00000381007:E2071K;ENSP00000228327:E2049K;ENSP00000266692:E1872K;ENSP00000448303:E671K	ENSP00000228327:E2049K	E	+	1	0	NAV3	77108050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	2.429000	0.82318	0.563000	0.77884	GAA		0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	40	0	0	0	0	10	40				
HCFC2	29915	broad.mit.edu	37	12	104496888	104496888	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:104496888C>T	ENST00000229330.4	+	15	2320	c.2216C>T	c.(2215-2217)aCa>aTa	p.T739I	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	739	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGTCTTAAGACATCATGTATA	0.388																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2215-2217)ACA>ATA		host cell factor C2							151.0	143.0	145.0					12																	104496888		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104496888C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2216C>T	12.37:g.104496888C>T	ENSP00000229330:p.Thr739Ile					HCFC2_uc009zul.2_RNA	p.T739I	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			15	2319	+			739			Fibronectin type-III 3.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.2216C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085199	0.76642	.	.	ENSG00000111727	ENST00000229330	T	0.57273	0.41	5.9	5.9	0.94986	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.053994	0.64402	D	0.000001	T	0.65616	0.2708	L	0.36672	1.1	0.46901	D	0.999248	D	0.76494	0.999	D	0.68039	0.955	T	0.65697	-0.6105	10	0.66056	D	0.02	-21.5741	20.2787	0.98501	0.0:1.0:0.0:0.0	.	739	Q9Y5Z7	HCFC2_HUMAN	I	739	ENSP00000229330:T739I	ENSP00000229330:T739I	T	+	2	0	HCFC2	103021018	0.999000	0.42202	0.995000	0.50966	0.991000	0.79684	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	ACA		0.388	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		6	105	0	0	0	0	6	105				
FLT1	2321	broad.mit.edu	37	13	29002024	29002024	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:29002024C>T	ENST00000282397.4	-	9	1392	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T	FLT1_ENST00000539099.1_Missense_Mutation_p.A381T|FLT1_ENST00000541932.1_Missense_Mutation_p.A381T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	381	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAATAGCGAGCAGATTTCTCA	0.403																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(1141-1143)GCT>ACT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						110.0	101.0	104.0					13																	29002024		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29002024C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1141G>A	13.37:g.29002024C>T	ENSP00000282397:p.Ala381Thr					FLT1_uc010aar.1_Missense_Mutation_p.A381T|FLT1_uc001usc.3_Missense_Mutation_p.A381T|FLT1_uc010tdp.1_Missense_Mutation_p.A381T	p.A381T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	9	1426	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	381			Ig-like C2-type 4.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1141G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398545	0.25205	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.66995	-0.24;-0.24;-0.24	5.85	1.99	0.26369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);Immunoglobulin-like fold (1);	0.178146	0.50627	D	0.000101	T	0.39226	0.1070	N	0.16708	0.43	0.40123	D	0.976625	B;B;B;B	0.25441	0.126;0.072;0.126;0.052	B;B;B;B	0.24701	0.04;0.04;0.04;0.055	T	0.12553	-1.0543	10	0.07482	T	0.82	.	3.8882	0.09107	0.1276:0.4996:0.2468:0.126	.	381;381;381;381	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	T	381	ENSP00000282397:A381T;ENSP00000437631:A381T;ENSP00000442630:A381T	ENSP00000282397:A381T	A	-	1	0	FLT1	27900024	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	1.237000	0.32695	0.797000	0.33971	-0.181000	0.13052	GCT		0.403	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			13	54	0	0	0	0	13	54				
SLC15A1	6564	broad.mit.edu	37	13	99378415	99378415	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:99378415G>A	ENST00000376503.5	-	4	262	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	69					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAAGAGCTCCGAGAATTGGCG	0.453																																						uc001vno.2		NA																	0				ovary(1)	1						c.(205-207)CTC>CTT		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						72.0	62.0	65.0					13																	99378415		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99378415G>A	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.207C>T	13.37:g.99378415G>A						SLC15A1_uc001vnp.1_Silent_p.L37L	p.L69L	NM_005073	NP_005064	P46059	S15A1_HUMAN			4	284	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		69			Helical; (Potential).		Q5VW82	Silent	SNP	ENST00000376503.5	37	c.207C>T	CCDS9489.1																																																																																				0.453	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		12	31	0	0	0	0	12	31				
EMC9	51016	broad.mit.edu	37	14	24608771	24608771	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:24608771C>A	ENST00000419198.2	-	3	608	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	EMC9_ENST00000216799.4_Missense_Mutation_p.D110Y|EMC9_ENST00000558200.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000560403.1_Missense_Mutation_p.D36Y			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	110						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											AGTACTGCATCAGGGAAGAAT	0.527																																						uc001wmi.2		NA																	0					0						c.(328-330)GAT>TAT		hypothetical protein LOC51016							52.0	49.0	50.0					14																	24608771		2203	4300	6503	SO:0001583	missense	51016							g.chr14:24608771C>A	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.328G>T	14.37:g.24608771C>A	ENSP00000403210:p.Asp110Tyr						p.D110Y	NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN			4	491	-			110					D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	c.328G>T	CCDS9613.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.946864	0.53186	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.47528	0.84;0.84	5.34	4.45	0.53987	.	0.717963	0.13954	N	0.351316	T	0.48390	0.1497	L	0.46157	1.445	0.34949	D	0.751104	B	0.32425	0.371	B	0.42282	0.382	T	0.60979	-0.7155	10	0.72032	D	0.01	-17.2096	8.9685	0.35892	0.0:0.8992:0.0:0.1008	.	110	Q9Y3B6	F158A_HUMAN	Y	110	ENSP00000403210:D110Y;ENSP00000216799:D110Y	ENSP00000216799:D110Y	D	-	1	0	FAM158A	23678611	0.839000	0.29477	0.991000	0.47740	0.998000	0.95712	2.623000	0.46435	1.458000	0.47871	0.655000	0.94253	GAT		0.527	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		8	24	1	0	0.000442599	0.000471154	8	24				
MIA2	117153	broad.mit.edu	37	14	39716136	39716136	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:39716136C>T	ENST00000280082.3	+	4	557	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	MIA2_ENST00000556784.1_Missense_Mutation_p.L119F|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.L120F	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	120					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCTTTGTCTTCTTGGAGTAAG	0.294																																						uc001wux.2		NA																	0				ovary(1)|breast(1)	2						c.(358-360)CTT>TTT		melanoma inhibitory activity 2							26.0	27.0	26.0					14																	39716136		2167	4271	6438	SO:0001583	missense	117153					extracellular region		g.chr14:39716136C>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.358C>T	14.37:g.39716136C>T	ENSP00000280082:p.Leu120Phe					MIA2_uc010amy.1_Missense_Mutation_p.L51F	p.L120F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	552	+	Hepatocellular(127;0.213)		120					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.358C>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052987	0.55218	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.81247	-1.47;-1.47;-1.47	5.64	3.82	0.43975	.	0.207908	0.24370	N	0.039110	T	0.63733	0.2536	N	0.24115	0.695	0.31148	N	0.705795	B;P	0.36789	0.152;0.57	B;B	0.36808	0.117;0.233	T	0.61212	-0.7108	9	.	.	.	-5.5854	4.089	0.09960	0.1149:0.5644:0.1779:0.1428	.	120;120	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	F	120;119;120	ENSP00000280082:L120F;ENSP00000451934:L119F;ENSP00000452252:L120F	.	L	+	1	0	MIA2;RP11-407N17.3	38785887	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.352000	0.20113	0.736000	0.32559	0.655000	0.94253	CTT		0.294	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		5	19	0	0	0	0	5	19				
NEMF	9147	broad.mit.edu	37	14	50318366	50318366	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:50318366G>T	ENST00000298310.5	-	3	595	c.146C>A	c.(145-147)aCa>aAa	p.T49K	NEMF_ENST00000556672.1_Missense_Mutation_p.T49K|NEMF_ENST00000546046.1_Missense_Mutation_p.T49K|NEMF_ENST00000545773.1_Missense_Mutation_p.T49K|RN7SL3_ENST00000578231.1_RNA			O60524	NEMF_HUMAN	nuclear export mediator factor	49					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AAGTAAAAGTGTAGCTTTAAA	0.353																																						uc001wxc.2		NA																	0					0						c.(145-147)ACA>AAA		serologically defined colon cancer antigen 1							104.0	104.0	104.0					14																	50318366		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50318366G>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.146C>A	14.37:g.50318366G>T	ENSP00000298310:p.Thr49Lys					SDCCAG1_uc010anj.1_Missense_Mutation_p.T49K|SDCCAG1_uc010tqi.1_Missense_Mutation_p.T49K|SDCCAG1_uc001wxe.2_Missense_Mutation_p.T49K|SDCCAG1_uc010anq.1_5'UTR	p.T49K	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	3	214	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	49					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.146C>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860120	0.71834	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626;ENST00000556672	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.47	5.47	0.80525	Fibronectin-binding A, N-terminal (1);	0.209202	0.45126	D	0.000396	T	0.46249	0.1383	M	0.71036	2.16	0.80722	D	1	P;P;P;P	0.47677	0.762;0.886;0.886;0.899	B;P;P;P	0.51266	0.352;0.452;0.452;0.664	T	0.30060	-0.9991	10	0.19147	T	0.46	-14.2925	12.3032	0.54887	0.0785:0.0:0.9215:0.0	.	49;49;49;49	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	K	49	ENSP00000298310:T49K;ENSP00000438309:T49K;ENSP00000441016:T49K;ENSP00000452540:T49K;ENSP00000451740:T49K;ENSP00000452174:T49K	ENSP00000298310:T49K	T	-	2	0	NEMF	49388116	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.403000	0.73264	2.567000	0.86603	0.455000	0.32223	ACA		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		4	59	1	0	0.000602214	0.000639192	4	59				
SYNE2	23224	broad.mit.edu	37	14	64565540	64565540	+	Splice_Site	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:64565540G>A	ENST00000344113.4	+	63	12593		c.e63+1		ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000394768.2_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAGCGATGTAAGGGAAAT	0.388																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.e63+1		spectrin repeat containing, nuclear envelope 2							124.0	130.0	128.0					14																	64565540		2203	4300	6503	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64565540G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12381+1G>A	14.37:g.64565540G>A						SYNE2_uc001xgl.2_Splice_Site_p.D4127_splice|SYNE2_uc010apy.2_Splice_Site_p.D512_splice|SYNE2_uc010apx.1_Missense_Mutation_p.V520I|SYNE2_uc010apz.1_Splice_Site_p.D19_splice	p.D4127_splice	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	63	12611	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.12381_splice	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114830	0.20795	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2754	0.73737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63635293	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	4.962000	0.63687	2.761000	0.94854	0.655000	0.94253	.		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	5	19	0	0	0	0	5	19				
MAP3K9	4293	broad.mit.edu	37	14	71209185	71209185	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:71209185G>A	ENST00000554752.2	-	6	1449	c.1450C>T	c.(1450-1452)Ctc>Ttc	p.L484F	MAP3K9_ENST00000555993.2_Missense_Mutation_p.L484F|MAP3K9_ENST00000381250.4_Missense_Mutation_p.L484F|MAP3K9_ENST00000554146.1_Missense_Mutation_p.L221F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.L178F	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	484	Leucine-zipper 2.				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)		ATGATGTTGAGCTCCCGTTCC	0.617																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	0				stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1450-1452)CTC>TTC		mitogen-activated protein kinase kinase kinase							86.0	74.0	78.0					14																	71209185		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209185G>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.1450C>T	14.37:g.71209185G>A	ENSP00000451612:p.Leu484Phe					MAP3K9_uc010ttk.1_Missense_Mutation_p.L221F|MAP3K9_uc001xmk.2_Missense_Mutation_p.L178F|MAP3K9_uc001xml.2_Missense_Mutation_p.L484F	p.L484F	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)	6	1450	-			484			Leucine-zipper 2.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1450C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.063575	0.76187	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92760	0.7698	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	D	0.92450	0.5969	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	221;484;484;178	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	F	484;484;178;484;221;212	ENSP00000451612:L484F;ENSP00000451038:L178F;ENSP00000370649:L484F;ENSP00000451921:L221F	ENSP00000005198:L484F	L	-	1	0	MAP3K9	70278938	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	9.793000	0.99091	2.882000	0.98803	0.655000	0.94253	CTC		0.617	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			14	35	0	0	0	0	14	35				
PAPLN	89932	broad.mit.edu	37	14	73720589	73720589	+	Missense_Mutation	SNP	G	G	T	rs145657526		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:73720589G>T	ENST00000554301.1	+	11	1385	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	PAPLN_ENST00000427855.1_Missense_Mutation_p.G408W|PAPLN_ENST00000340738.5_Missense_Mutation_p.G381W|PAPLN_ENST00000381166.3_Missense_Mutation_p.G408W|PAPLN_ENST00000555445.1_Missense_Mutation_p.G408W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	408	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGAGTGTGCCGGGCTGCCTGG	0.697																																						uc010ttx.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1222-1224)GGG>TGG		papilin							29.0	31.0	30.0					14																	73720589		2202	4299	6501	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73720589G>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1222G>T	14.37:g.73720589G>T	ENSP00000451803:p.Gly408Trp					PAPLN_uc001xnw.3_Missense_Mutation_p.G381W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G408W	p.G408W	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1385	+			408			TSP type-1 3.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1222G>T		.	.	.	.	.	.	.	.	.	.	G	14.84	2.656813	0.47467	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.57	3.65	0.41850	.	.	.	.	.	T	0.76054	0.3934	M	0.79123	2.44	0.38428	D	0.946376	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.994	T	0.79145	-0.1924	9	0.72032	D	0.01	.	9.0162	0.36170	0.0799:0.0:0.7747:0.1454	.	408;408;381	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	W	381;408;408;408;408	ENSP00000345395:G381W;ENSP00000403403:G408W;ENSP00000370558:G408W;ENSP00000451803:G408W;ENSP00000451729:G408W	ENSP00000216658:G408W	G	+	1	0	PAPLN	72790342	1.000000	0.71417	0.832000	0.32986	0.240000	0.25518	3.418000	0.52721	2.385000	0.81259	0.462000	0.41574	GGG		0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		14	39	1	0	1.05e-09	1.18e-09	14	39				
PTGR2	145482	broad.mit.edu	37	14	74345930	74345930	+	Silent	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:74345930C>A	ENST00000555661.1	+	6	796	c.651C>A	c.(649-651)ctC>ctA	p.L217L	PTGR2_ENST00000555228.1_Silent_p.L217L|PTGR2_ENST00000553813.1_Silent_p.L83L|PTGR2_ENST00000267568.4_Silent_p.L217L|RP5-1021I20.4_ENST00000556551.2_Intron			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	217					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	CAGAACAGCTCCGTGAATCAT	0.403																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.2		NA																	0					0						c.(649-651)CTC>CTA		prostaglandin reductase 2							167.0	160.0	162.0					14																	74345930		2203	4300	6503	SO:0001819	synonymous_variant	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74345930C>A	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.651C>A	14.37:g.74345930C>A						PTGR2_uc010tue.1_Silent_p.L217L|PTGR2_uc001xox.2_Silent_p.L217L|ZNF410_uc001xoy.1_Intron	p.L217L	NM_001146154	NP_001139626	Q8N8N7	PTGR2_HUMAN			6	811	+			217					Q3L8A4|Q6MZH8	Silent	SNP	ENST00000555661.1	37	c.651C>A	CCDS9820.1																																																																																				0.403	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			45	112	1	0	4.07e-11	4.57e-11	45	112				
NOXRED1	122945	broad.mit.edu	37	14	77872373	77872373	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:77872373C>G	ENST00000380835.2	-	5	954	c.788G>C	c.(787-789)aGt>aCt	p.S263T		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	263					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAAGAGTTCACTCAGAAGCTG	0.463																																						uc001xtr.2		NA																	0					0						c.(787-789)AGT>ACT		hypothetical protein LOC122945 isoform 1							92.0	81.0	84.0					14																	77872373		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77872373C>G	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.788G>C	14.37:g.77872373C>G	ENSP00000370215:p.Ser263Thr						p.S263T	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	5	935	-			263					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.788G>C	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756677	0.15846	.	.	ENSG00000165555	ENST00000380835	T	0.55588	0.51	5.66	1.02	0.19986	.	0.391245	0.28036	N	0.016850	T	0.34978	0.0916	L	0.34521	1.04	0.22401	N	0.999135	B	0.12630	0.006	B	0.12837	0.008	T	0.15954	-1.0419	10	0.38643	T	0.18	-7.714	5.4871	0.16755	0.0:0.4581:0.1603:0.3815	.	263	Q6NXP6	NXRD1_HUMAN	T	263	ENSP00000370215:S263T	ENSP00000370215:S263T	S	-	2	0	C14orf148	76942126	0.003000	0.15002	0.001000	0.08648	0.043000	0.13939	-0.066000	0.11598	-0.108000	0.12066	-0.384000	0.06662	AGT		0.463	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		7	25	0	0	0	0	7	25				
TDP1	55775	broad.mit.edu	37	14	90485752	90485752	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:90485752C>T	ENST00000335725.4	+	15	1884	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	TDP1_ENST00000393454.2_Missense_Mutation_p.P545L|TDP1_ENST00000555880.1_Missense_Mutation_p.P545L|TDP1_ENST00000393452.3_Missense_Mutation_p.P545L|TDP1_ENST00000357382.3_Missense_Mutation_p.P306L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	545					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CTTTTCCTCCCTTCAGCATTT	0.512								Repair of DNA-protein crosslinks																														uc001xxy.2		NA																	0				ovary(2)	2						c.(1633-1635)CCT>CTT	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							103.0	95.0	98.0					14																	90485752		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90485752C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1634C>T	14.37:g.90485752C>T	ENSP00000337353:p.Pro545Leu					TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.P545L|TDP1_uc010atn.2_Missense_Mutation_p.P545L|TDP1_uc001xya.2_Missense_Mutation_p.P306L|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.P545L|TDP1_uc001xyd.1_Missense_Mutation_p.P160L	p.P545L	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	15	1933	+		all_cancers(154;0.185)	545					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1634C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318289	0.81469	.	.	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.01	4.09	0.47781	.	0.055231	0.64402	D	0.000001	T	0.76126	0.3944	H	0.94306	3.52	0.80722	D	1	D;D;D;P;D	0.62365	0.989;0.991;0.976;0.956;0.976	P;P;P;P;P	0.60949	0.709;0.881;0.808;0.561;0.808	T	0.82343	-0.0504	10	0.51188	T	0.08	0.04	13.7065	0.62644	0.1546:0.8454:0.0:0.0	.	545;545;545;306;545	G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.;.;.;.;TYDP1_HUMAN	L	545;545;545;306;545	ENSP00000377098:P545L;ENSP00000377099:P545L;ENSP00000337353:P545L;ENSP00000349952:P306L;ENSP00000450628:P545L	ENSP00000337353:P545L	P	+	2	0	TDP1	89555505	1.000000	0.71417	0.809000	0.32408	0.991000	0.79684	6.760000	0.74939	2.320000	0.78422	0.655000	0.94253	CCT		0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		7	15	0	0	0	0	7	15				
FBLN5	10516	broad.mit.edu	37	14	92347671	92347671	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:92347671G>A	ENST00000342058.4	-	9	1547	c.954C>T	c.(952-954)atC>atT	p.I318I	FBLN5_ENST00000556154.1_Silent_p.I323I|FBLN5_ENST00000267620.10_Silent_p.I359I	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	318	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.I318M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CCTCACAGCGGATGGGGTCAA	0.527																																						uc001xzx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(952-954)ATC>ATT		fibulin 5 precursor							100.0	82.0	88.0					14																	92347671		2203	4300	6503	SO:0001819	synonymous_variant	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92347671G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.954C>T	14.37:g.92347671G>A						FBLN5_uc010aud.2_Silent_p.I323I|FBLN5_uc010aue.2_Silent_p.I359I	p.I318I	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			9	1427	-		all_cancers(154;0.0722)	318			EGF-like 6; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	c.954C>T	CCDS9898.1																																																																																				0.527	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			11	35	0	0	0	0	11	35				
FBLN5	10516	broad.mit.edu	37	14	92357591	92357591	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:92357591A>G	ENST00000342058.4	-	6	1186	c.593T>C	c.(592-594)cTc>cCc	p.L198P	FBLN5_ENST00000556154.1_Missense_Mutation_p.L203P|FBLN5_ENST00000267620.10_Missense_Mutation_p.L239P	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	198	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ATCCTCATTGAGGGTAAAACC	0.478																																						uc001xzx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(592-594)CTC>CCC		fibulin 5 precursor							166.0	124.0	138.0					14																	92357591		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92357591A>G	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.593T>C	14.37:g.92357591A>G	ENSP00000345008:p.Leu198Pro					FBLN5_uc010aud.2_Missense_Mutation_p.L203P|FBLN5_uc010aue.2_Missense_Mutation_p.L239P	p.L198P	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			6	1066	-		all_cancers(154;0.0722)	198			EGF-like 3; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.593T>C	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281124	0.80692	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.93604	-3.25;-3.25;-3.25	5.0	5.0	0.66597	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.96506	0.8860	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.998	D	0.97108	0.9802	10	0.87932	D	0	.	14.3986	0.67027	1.0:0.0:0.0:0.0	.	239;203;198	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	P	239;198;203	ENSP00000267620:L239P;ENSP00000345008:L198P;ENSP00000451982:L203P	ENSP00000267620:L295P	L	-	2	0	FBLN5	91427344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.885000	0.92439	1.899000	0.54978	0.459000	0.35465	CTC		0.478	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			3	45	0	0	0	0	3	45				
GPR132	29933	broad.mit.edu	37	14	105518369	105518369	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:105518369G>A	ENST00000329797.3	-	4	1016	c.105C>T	c.(103-105)aaC>aaT	p.N35N	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.N26N|GPR132_ENST00000539291.2_Silent_p.N35N	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	35					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGAAGGACACGTTGTTGCAGG	0.657																																						uc001yqd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(103-105)AAC>AAT		G protein-coupled receptor 132							59.0	63.0	62.0					14																	105518369		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518369G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.105C>T	14.37:g.105518369G>A						GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.N26N	p.N35N	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1004	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	35			Extracellular (Potential).		A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.105C>T	CCDS9997.1																																																																																				0.657	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		17	50	0	0	0	0	17	50				
PLA2G4F	255189	broad.mit.edu	37	15	42434752	42434752	+	Missense_Mutation	SNP	C	C	T	rs138996971		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:42434752C>T	ENST00000382396.4	-	19	2389	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R770H			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	768	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCGGAAGGTACGGTTAACCAG	0.637																																						uc001zoz.2		NA																	0				ovary(4)	4						c.(2302-2304)CGT>CAT		phospholipase A2, group IVF		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	59.0	61.0		2303	2.4	0.2	15	dbSNP_134	61	1,8597	1.2+/-3.3	0,1,4298	yes	missense	PLA2G4F	NM_213600.3	29	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	768/850	42434752	2,13002	2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434752C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2303G>A	15.37:g.42434752C>T	ENSP00000371833:p.Arg768His					PLA2G4F_uc010bcq.2_Missense_Mutation_p.R65H|PLA2G4F_uc001zoy.2_Missense_Mutation_p.R400H|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R519H|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R519H|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R555H	p.R768H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	19	2366	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	768			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2303G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773923	0.16051	2.27E-4	1.16E-4	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.04119	3.7;3.7	4.88	2.39	0.29439	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.561834	0.16220	N	0.224080	T	0.03959	0.0111	L	0.29908	0.895	0.09310	N	1	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.11329	0.005;0.006;0.005	T	0.37820	-0.9689	10	0.44086	T	0.13	-1.8836	6.6837	0.23134	0.0:0.5264:0.0:0.4736	.	555;770;768	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	H	764;770;768;768	ENSP00000380442:R770H;ENSP00000371833:R768H	ENSP00000290497:R764H	R	-	2	0	PLA2G4F	40222044	0.003000	0.15002	0.185000	0.23176	0.211000	0.24417	0.568000	0.23623	0.665000	0.31066	0.655000	0.94253	CGT		0.637	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		12	50	0	0	0	0	12	50				
MYO5A	4644	broad.mit.edu	37	15	52664414	52664414	+	Silent	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:52664414G>C	ENST00000399231.3	-	21	2967	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	MYO5A_ENST00000399233.2_Silent_p.L908L|MYO5A_ENST00000358212.6_Silent_p.L908L|MYO5A_ENST00000356338.6_Silent_p.L908L|MYO5A_ENST00000553916.1_Silent_p.L908L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	908	IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTCGATTTTGAGCTTCTTTA	0.537																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2722-2724)CTC>CTG		myosin VA isoform 1							69.0	66.0	67.0					15																	52664414		1998	4180	6178	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664414G>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2724C>G	15.37:g.52664414G>C						MYO5A_uc002abx.3_Silent_p.L908L|MYO5A_uc010uge.1_Silent_p.L777L	p.L908L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2968	-			908			IQ 6.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.2724C>G	CCDS42037.1																																																																																				0.537	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		11	25	0	0	0	0	11	25				
PARP16	54956	broad.mit.edu	37	15	65555626	65555626	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:65555626G>A	ENST00000444347.2	-	2	623	c.207C>T	c.(205-207)acC>acT	p.T69T	PARP16_ENST00000261888.6_Silent_p.T184T			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	184	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TCAAGTCACTGGTGAGGTAGG	0.567																																					NSCLC(50;885 1163 13509 21242 41978)	uc002aoo.2		NA																	0				lung(2)	2						c.(550-552)ACC>ACT		poly (ADP-ribose) polymerase family, member 16							87.0	69.0	75.0					15																	65555626		2201	4299	6500	SO:0001819	synonymous_variant	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65555626G>A	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.207C>T	15.37:g.65555626G>A						PARP16_uc002aop.2_Silent_p.T69T|PARP16_uc002aoq.2_Silent_p.T184T	p.T184T	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN			4	806	-			184			PARP catalytic.		Q6PK64|Q9NX03	Silent	SNP	ENST00000444347.2	37	c.552C>T																																																																																					0.567	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		4	18	0	0	0	0	4	18				
EFTUD1	79631	broad.mit.edu	37	15	82512532	82512532	+	Missense_Mutation	SNP	C	C	T	rs376049845		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:82512532C>T	ENST00000268206.7	-	13	1499	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R393H	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	444					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTGTCTTGCACGCTCACGTCT	0.498																																						uc002bgt.1		NA																	0				ovary(1)	1						c.(1330-1332)CGT>CAT		elongation factor Tu GTP binding domain		C	HIS/ARG,HIS/ARG	0,4002		0,0,2001	213.0	201.0	205.0		1178,1331	2.2	1.0	15		205	2,8362		0,2,4180	no	missense,missense	EFTUD1	NM_001040610.2,NM_024580.5	29,29	0,2,6181	TT,TC,CC		0.0239,0.0,0.0162	possibly-damaging,possibly-damaging	393/1070,444/1121	82512532	2,12364	2001	4182	6183	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82512532C>T	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1331G>A	15.37:g.82512532C>T	ENSP00000268206:p.Arg444His					EFTUD1_uc002bgu.1_Missense_Mutation_p.R393H	p.R444H	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			13	1500	-			444					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.1331G>A	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502553	0.64298	0.0	2.39E-4	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.64085	-0.08;0.17	4.29	2.24	0.28232	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.459955	0.16331	N	0.219132	T	0.57548	0.2061	L	0.50333	1.59	0.28849	N	0.896165	P;P	0.47545	0.897;0.834	P;B	0.49708	0.62;0.416	T	0.49224	-0.8962	10	0.15066	T	0.55	-4.3913	7.5082	0.27558	0.2596:0.6463:0.0:0.0941	.	393;444	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	H	444;393	ENSP00000268206:R444H;ENSP00000352418:R393H	ENSP00000268206:R444H	R	-	2	0	EFTUD1	80299587	0.972000	0.33761	0.955000	0.39395	0.996000	0.88848	0.824000	0.27379	1.150000	0.42419	0.585000	0.79938	CGT		0.498	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		45	144	0	0	0	0	45	144				
UMOD	7369	broad.mit.edu	37	16	20348717	20348717	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:20348717C>A	ENST00000570689.1	-	8	1782	c.1636G>T	c.(1636-1638)Ggc>Tgc	p.G546C	UMOD_ENST00000396142.2_Missense_Mutation_p.G546C|UMOD_ENST00000424589.1_Missense_Mutation_p.G579C|UMOD_ENST00000396138.4_Missense_Mutation_p.G595C|UMOD_ENST00000396134.2_Missense_Mutation_p.G579C|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Missense_Mutation_p.G546C			P07911	UROM_HUMAN	uromodulin	546	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAAAATCGGCCCTGGGAGGAC	0.463																																						uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1636-1638)GGC>TGC		uromodulin precursor							105.0	107.0	106.0					16																	20348717		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20348717C>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1636G>T	16.37:g.20348717C>A	ENSP00000460548:p.Gly546Cys					UMOD_uc002dha.2_Missense_Mutation_p.G546C|UMOD_uc002dhb.2_Missense_Mutation_p.G579C	p.G546C	NM_003361	NP_003352	P07911	UROM_HUMAN			8	1765	-			546			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1636G>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313930	0.40996	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.62	2.52	0.30459	Zona pellucida sperm-binding protein (3);	0.378370	0.22859	N	0.054767	D	0.85017	0.5601	L	0.42245	1.32	0.29841	N	0.829182	D;D	0.89917	1.0;0.997	D;D	0.74348	0.983;0.981	T	0.78927	-0.2011	10	0.45353	T	0.12	-16.9813	8.5247	0.33298	0.0:0.7332:0.0:0.2668	.	579;546	E9PEA4;P07911	.;UROM_HUMAN	C	546;579;579;546;524;546	ENSP00000379438:G579C;ENSP00000416346:G579C;ENSP00000306279:G546C;ENSP00000379446:G546C	ENSP00000306279:G546C	G	-	1	0	UMOD	20256218	0.903000	0.30736	0.624000	0.29186	0.334000	0.28698	0.218000	0.17622	0.260000	0.21731	-0.345000	0.07892	GGC		0.463	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			14	29	1	0	7.93e-07	8.73e-07	14	29				
SLC12A4	6560	broad.mit.edu	37	16	67979117	67979117	+	Silent	SNP	T	T	C	rs150617520		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:67979117T>C	ENST00000316341.3	-	23	3179	c.3039A>G	c.(3037-3039)caA>caG	p.Q1013Q	SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Silent_p.Q982Q|SLC12A4_ENST00000537830.2_Silent_p.Q1007Q|SLC12A4_ENST00000422611.2_Silent_p.Q1015Q|SLC12A4_ENST00000572037.1_Silent_p.Q965Q|SLC12A4_ENST00000576616.1_Silent_p.Q1013Q|CTC-479C5.17_ENST00000590594.1_lincRNA|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1013					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACATTGGATTGGTCCCTAC	0.592																																						uc002euz.2		NA																	0				ovary(1)	1						c.(3037-3039)CAA>CAG		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)	T	,,,,	0,4396		0,0,2198	101.0	95.0	97.0		3021,3045,3021,2946,3039	-7.8	0.1	16	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	,,,,	1007/1080,1015/1088,1007/1080,982/1055,1013/1086	67979117	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979117T>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3039A>G	16.37:g.67979117T>C						LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.Q1007Q|SLC12A4_uc010vkh.1_Silent_p.Q982Q|SLC12A4_uc010vki.1_Silent_p.Q1007Q|SLC12A4_uc010vkj.1_Silent_p.Q1015Q|SLC12A4_uc002eva.2_Silent_p.Q1013Q	p.Q1013Q	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	23	3180	-		Ovarian(137;0.192)	1013			Cytoplasmic (Potential).		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.3039A>G	CCDS10855.1																																																																																				0.592	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		14	49	0	0	0	0	14	49				
ZNF23	7571	broad.mit.edu	37	16	71482652	71482652	+	Missense_Mutation	SNP	C	C	T	rs201062958		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:71482652C>T	ENST00000393539.2	-	6	2089	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.G426R|ZNF23_ENST00000564528.1_Missense_Mutation_p.G368R|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.G426R|ZNF23_ENST00000428724.2_Missense_Mutation_p.G368R	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	426					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)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGCTTTCCCGCATTCATTA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		21412	0.001		0.0	False		,,,				2504	0.0					uc002faf.2		NA																	0					0						c.(1276-1278)GGG>AGG		zinc finger protein 23							61.0	58.0	59.0					16																	71482652		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482652C>T	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1276G>A	16.37:g.71482652C>T	ENSP00000377171:p.Gly426Arg					ZNF23_uc002fad.2_Missense_Mutation_p.G368R|ZNF23_uc002fae.2_Missense_Mutation_p.G368R|ZNF23_uc010vmf.1_Missense_Mutation_p.G368R|ZNF23_uc002fag.2_Missense_Mutation_p.G368R|ZNF23_uc002fah.2_Missense_Mutation_p.G426R|ZNF23_uc002fai.2_Missense_Mutation_p.G465R	p.G426R	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2090	-		Ovarian(137;0.00768)	426			C2H2-type 10.		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1276G>A	CCDS10900.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.59	2.283340	0.40394	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	4.26	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.477034	0.17888	N	0.158602	T	0.27419	0.0673	M	0.82433	2.59	0.37116	D	0.900563	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.12344	-1.0551	10	0.66056	D	0.02	-7.6759	8.453	0.32882	0.0:0.8065:0.0:0.1935	.	426;426	B3KR55;P17027	.;ZNF23_HUMAN	R	426;426;426;368;368;198	ENSP00000377171:G426R;ENSP00000349796:G426R;ENSP00000395712:G426R;ENSP00000387673:G368R	ENSP00000349796:G426R	G	-	1	0	ZNF23	70040153	0.999000	0.42202	0.998000	0.56505	0.349000	0.29174	3.139000	0.50577	0.750000	0.32877	0.555000	0.69702	GGG		0.463	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		8	30	0	0	0	0	8	30				
SLC16A13	201232	broad.mit.edu	37	17	6942181	6942181	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:6942181G>A	ENST00000308027.6	+	3	1362	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	352						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGAGAGCATCGGGGGGCTGCT	0.572																																						uc002geh.2		NA																	0				ovary(1)|skin(1)	2						c.(1054-1056)GGG>AGG		monocarboxylate transporter 13							72.0	88.0	82.0					17																	6942181		2194	4275	6469	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6942181G>A	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.1054G>A	17.37:g.6942181G>A	ENSP00000309751:p.Gly352Arg						p.G352R	NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN			3	1362	+			352			Helical; (Potential).		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.1054G>A	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683724	0.88639	.	.	ENSG00000174327	ENST00000308027	T	0.69306	-0.39	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.101805	0.64402	D	0.000003	D	0.84633	0.5515	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86420	0.1754	10	0.62326	D	0.03	.	16.9043	0.86122	0.0:0.0:1.0:0.0	.	352	Q7RTY0	MOT13_HUMAN	R	352	ENSP00000309751:G352R	ENSP00000309751:G352R	G	+	1	0	SLC16A13	6882905	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.928000	0.92853	2.861000	0.98227	0.650000	0.86243	GGG		0.572	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			29	97	0	0	0	0	29	97				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(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	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	35	0	0	0	0	6	35				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	28	0	0	0	0	18	28				
CHD3	1107	broad.mit.edu	37	17	7800529	7800529	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7800529G>A	ENST00000330494.7	+	11	1986	c.1836G>A	c.(1834-1836)ccG>ccA	p.P612P	CHD3_ENST00000358181.4_Silent_p.P612P|CHD3_ENST00000380358.4_Silent_p.P671P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGAAAGACCCGCACTATGCTG	0.542																																						uc002gje.2		NA																	0				breast(1)	1						c.(1834-1836)CCG>CCA		chromodomain helicase DNA binding protein 3							158.0	124.0	135.0					17																	7800529		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7800529G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1836G>A	17.37:g.7800529G>A						CHD3_uc002gjd.2_Silent_p.P671P|CHD3_uc002gjf.2_Silent_p.P612P|CHD3_uc002gjg.1_Silent_p.P440P	p.P612P	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			11	1986	+		Prostate(122;0.202)	612					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.1836G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	6.742	0.505623	0.12822	.	.	ENSG00000170004	ENST00000452447	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56408	-0.7984	4	.	.	.	-17.69	4.3711	0.11247	0.4392:0.2031:0.2526:0.1051	.	.	.	.	T	483	.	.	A	+	1	0	CHD3	7741254	0.000000	0.05858	0.005000	0.12908	0.787000	0.44495	-6.445000	0.00065	-4.389000	0.00052	-2.157000	0.00329	GCA		0.542	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		17	45	0	0	0	0	17	45				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						uc002hvz.2		NA																	6	Substitution - coding silent(6)		endometrium(3)|kidney(2)|lung(1)		0						c.(151-153)AGG>AGA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	192	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	50	0	0	0	0	5	50				
WNK4	65266	broad.mit.edu	37	17	40940718	40940718	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:40940718G>C	ENST00000246914.5	+	11	2081	c.2060G>C	c.(2059-2061)aGa>aCa	p.R687T		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	687					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGAATGACAGAGTGGTTGAG	0.532																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(2059-2061)AGA>ACA		WNK lysine deficient protein kinase 4							123.0	91.0	101.0					17																	40940718		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940718G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2060G>C	17.37:g.40940718G>C	ENSP00000246914:p.Arg687Thr					WNK4_uc010wgx.1_Missense_Mutation_p.R351T|WNK4_uc002ibk.1_Missense_Mutation_p.R459T|WNK4_uc010wgy.1_Missense_Mutation_p.R31T	p.R687T	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2081	+		Breast(137;0.000143)	687					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2060G>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722252	0.68959	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.33438	1.41	4.98	4.98	0.66077	.	0.000000	0.52532	D	0.000075	T	0.51991	0.1707	L	0.58810	1.83	0.39115	D	0.961551	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.988;0.946;0.963	T	0.50659	-0.8802	10	0.41790	T	0.15	-10.0204	17.1747	0.86838	0.0:0.0:1.0:0.0	.	31;687;687;687	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	T	687;459;31	ENSP00000246914:R687T	ENSP00000246914:R687T	R	+	2	0	WNK4	38194244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.598000	0.87819	0.655000	0.94253	AGA		0.532	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			13	37	0	0	0	0	13	37				
TBX21	30009	broad.mit.edu	37	17	45822604	45822604	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:45822604G>A	ENST00000177694.1	+	6	1691	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	494					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E494K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTGGGCGAAGGAGACTC	0.617																																						uc002ilv.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1480-1482)GAA>AAA		T-box 21							44.0	45.0	45.0					17																	45822604		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822604G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1480G>A	17.37:g.45822604G>A	ENSP00000177694:p.Glu494Lys						p.E494K	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1691	+			494						Missense_Mutation	SNP	ENST00000177694.1	37	c.1480G>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447346	0.63178	.	.	ENSG00000073861	ENST00000177694	D	0.86230	-2.09	5.38	5.38	0.77491	.	0.206123	0.31601	N	0.007363	D	0.88336	0.6409	M	0.73598	2.24	0.36175	D	0.849049	D	0.61697	0.99	P	0.45998	0.5	D	0.92221	0.5784	10	0.62326	D	0.03	.	14.6327	0.68668	0.0:0.0:1.0:0.0	.	494	Q9UL17	TBX21_HUMAN	K	494	ENSP00000177694:E494K	ENSP00000177694:E494K	E	+	1	0	TBX21	43177603	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.340000	0.52143	2.499000	0.84300	0.655000	0.94253	GAA		0.617	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		11	31	0	0	0	0	11	31				
ICAM2	3384	broad.mit.edu	37	17	62080239	62080239	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:62080239C>T	ENST00000412356.1	-	6	1050	c.696G>A	c.(694-696)tcG>tcA	p.S232S	ICAM2_ENST00000578379.1_Silent_p.S131S|ICAM2_ENST00000579687.1_Silent_p.S232S|ICAM2_ENST00000449662.2_Silent_p.S232S|ICAM2_ENST00000578892.1_Silent_p.S208S|C17orf72_ENST00000412177.1_3'UTR|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.S232S|ICAM2_ENST00000418105.1_Silent_p.S232S	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	232					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACAGCAACACCGACACCACCG	0.612																																						uc002jdu.3		NA																	0				ovary(1)	1						c.(694-696)TCG>TCA		intercellular adhesion molecule 2 precursor							115.0	85.0	95.0					17																	62080239		2203	4300	6503	SO:0001819	synonymous_variant	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62080239C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.696G>A	17.37:g.62080239C>T						C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Silent_p.S232S|ICAM2_uc010ded.2_Silent_p.S232S|ICAM2_uc002jdx.3_Silent_p.S232S|ICAM2_uc002jdv.3_Silent_p.S232S	p.S232S	NM_000873	NP_000864	P13598	ICAM2_HUMAN			4	928	-			232			Helical; (Potential).		Q14600	Silent	SNP	ENST00000412356.1	37	c.696G>A	CCDS11657.1																																																																																				0.612	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			3	16	0	0	0	0	3	16				
USH1G	124590	broad.mit.edu	37	17	72915913	72915913	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:72915913C>T	ENST00000319642.1	-	2	1200	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	340					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCGGCGCTCCCACCCCATCC	0.687																																						uc002jme.1		NA																	0				skin(2)	2						c.(1018-1020)GGA>AGA		Usher syndrome 1G protein							41.0	51.0	47.0					17																	72915913		2202	4297	6499	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915913C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1018G>A	17.37:g.72915913C>T	ENSP00000320076:p.Gly340Arg					USH1G_uc010wro.1_Missense_Mutation_p.G237R	p.G340R	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	1201	-	all_lung(278;0.172)|Lung NSC(278;0.207)		340					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1018G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.289238	0.23478	.	.	ENSG00000182040	ENST00000319642	T	0.71222	-0.55	4.07	4.07	0.47477	.	0.488214	0.20754	N	0.086300	T	0.55257	0.1909	N	0.24115	0.695	0.58432	D	0.999991	P	0.41265	0.744	B	0.36666	0.23	T	0.55360	-0.8153	10	0.19590	T	0.45	-34.5711	16.5042	0.84264	0.0:1.0:0.0:0.0	.	340	Q495M9	USH1G_HUMAN	R	340	ENSP00000320076:G340R	ENSP00000320076:G340R	G	-	1	0	USH1G	70427508	0.976000	0.34144	0.600000	0.28864	0.097000	0.18754	2.895000	0.48648	2.123000	0.65237	0.555000	0.69702	GGA		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		18	82	0	0	0	0	18	82				
SLC26A11	284129	broad.mit.edu	37	17	78211342	78211342	+	Missense_Mutation	SNP	G	G	A	rs549132744		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:78211342G>A	ENST00000361193.3	+	9	1214	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	SLC26A11_ENST00000411502.3_Missense_Mutation_p.V312M|SLC26A11_ENST00000546047.2_Missense_Mutation_p.V312M|SLC26A11_ENST00000572725.1_Missense_Mutation_p.V312M	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGGCTGGCCGTGGTGCCCCT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16237	0.001		0.0	False		,,,				2504	0.0					uc002jyb.1		NA																	0					0						c.(934-936)GTG>ATG		solute carrier family 26, member 11							39.0	32.0	35.0					17																	78211342		2203	4300	6503	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78211342G>A		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.934G>A	17.37:g.78211342G>A	ENSP00000355384:p.Val312Met					SLC26A11_uc002jyc.1_Missense_Mutation_p.V312M|SLC26A11_uc002jyd.1_Missense_Mutation_p.V312M|SLC26A11_uc010dhv.1_Missense_Mutation_p.V312M	p.V312M	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		9	1203	+	all_neural(118;0.0538)		312			Helical; (Potential).			Missense_Mutation	SNP	ENST00000361193.3	37	c.934G>A	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870327	0.72065	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93488	-3.23;-3.23;-3.23	4.89	4.89	0.63831	Sulphate transporter (1);	0.247400	0.40469	N	0.001099	D	0.95974	0.8689	M	0.79475	2.455	0.54753	D	0.999983	D	0.89917	1.0	D	0.77004	0.989	D	0.95568	0.8635	10	0.52906	T	0.07	-21.3313	11.5482	0.50706	0.0842:0.0:0.9158:0.0	.	312	Q86WA9	S2611_HUMAN	M	312	ENSP00000403998:V312M;ENSP00000440724:V312M;ENSP00000355384:V312M	ENSP00000355384:V312M	V	+	1	0	SLC26A11	75825937	1.000000	0.71417	0.986000	0.45419	0.805000	0.45488	4.249000	0.58766	2.410000	0.81850	0.467000	0.42956	GTG		0.642	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			7	11	0	0	0	0	7	11				
DOT1L	84444	broad.mit.edu	37	19	2210646	2210646	+	Silent	SNP	G	G	A	rs184482663	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:2210646G>A	ENST00000398665.3	+	14	1179	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	381					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGAAGGCGGGAGCAGCCA	0.647													G|||	8	0.00159744	0.0	0.0	5008	,	,		15030	0.001		0.0	False		,,,				2504	0.0072					uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1141-1143)GCG>GCA		DOT1-like, histone H3 methyltransferase							80.0	91.0	88.0					19																	2210646		1975	4146	6121	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210646G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1143G>A	19.37:g.2210646G>A						DOT1L_uc002lvc.1_5'Flank	p.A381A	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1179	+		Hepatocellular(1079;0.137)	381					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1143G>A	CCDS42460.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	0.496	-0.873287	0.02570	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.94	-9.87	0.00470	.	.	.	.	.	T	0.13756	0.0333	.	.	.	0.19945	N	0.999949	.	.	.	.	.	.	T	0.09443	-1.0674	4	.	.	.	-3.6266	0.7662	0.01016	0.3281:0.1034:0.1528:0.4156	.	.	.	.	Q	168	.	.	R	+	2	0	DOT1L	2161646	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-1.291000	0.02775	-3.744000	0.00112	-1.208000	0.01637	CGG		0.647	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		19	76	0	0	0	0	19	76				
DUS3L	56931	broad.mit.edu	37	19	5789493	5789493	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:5789493C>T	ENST00000309061.7	-	3	721	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	209							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGTCCAGGCCGTTGCGGATG	0.726																																						uc002mdc.2		NA																	0					0						c.(625-627)GGC>AGC		dihydrouridine synthase 3-like isoform 1							9.0	13.0	12.0					19																	5789493		2150	4224	6374	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789493C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.625G>A	19.37:g.5789493C>T	ENSP00000311977:p.Gly209Ser					DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	p.G209S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			3	722	-			209					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.625G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341799	0.11069	.	.	ENSG00000141994	ENST00000309061	T	0.16743	2.32	4.51	1.15	0.20763	.	0.170564	0.49305	N	0.000146	T	0.08846	0.0219	N	0.25201	0.72	0.28585	N	0.909914	B	0.06786	0.001	B	0.08055	0.003	T	0.28235	-1.0050	10	0.20519	T	0.43	-53.1615	6.1525	0.20320	0.0:0.5804:0.0:0.4196	.	209	Q96G46	DUS3L_HUMAN	S	209	ENSP00000311977:G209S	ENSP00000311977:G209S	G	-	1	0	DUS3L	5740493	0.909000	0.30893	0.456000	0.27044	0.331000	0.28603	0.464000	0.21988	0.346000	0.23899	0.491000	0.48974	GGC		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		5	9	0	0	0	0	5	9				
C3	718	broad.mit.edu	37	19	6685055	6685055	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:6685055A>G	ENST00000245907.6	-	30	4005	c.3913T>C	c.(3913-3915)Tcc>Ccc	p.S1305P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1305					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTGATCTTGGAGCTGCGGCTG	0.582																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3913-3915)TCC>CCC		complement component 3 precursor							96.0	74.0	82.0					19																	6685055		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6685055A>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3913T>C	19.37:g.6685055A>G	ENSP00000245907:p.Ser1305Pro					C3_uc002mfl.2_Missense_Mutation_p.S41P	p.S1305P	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	30	3975	-			1305					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3913T>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.431482	0.25813	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.31	-0.7	0.11273	.	0.881788	0.10080	N	0.718512	T	0.32133	0.0819	M	0.76574	2.34	0.09310	N	1	P	0.35493	0.505	B	0.31547	0.132	T	0.16335	-1.0406	10	0.29301	T	0.29	.	6.7181	0.23314	0.3037:0.2368:0.0:0.4595	.	1305	P01024	CO3_HUMAN	P	1305	ENSP00000245907:S1305P	ENSP00000245907:S1305P	S	-	1	0	C3	6636055	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.104000	0.10923	-0.430000	0.07318	0.528000	0.53228	TCC		0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		3	52	0	0	0	0	3	52				
RDH8	50700	broad.mit.edu	37	19	10124179	10124179	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:10124179C>T	ENST00000171214.1	+	1	255	c.6C>T	c.(4-6)gcC>gcT	p.A2A	RDH8_ENST00000591589.1_Silent_p.A22A	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	2					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCAACATGGCCGCTGCACCCC	0.607																																						uc002mmr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(4-6)GCC>GCT		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						77.0	72.0	74.0					19																	10124179		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10124179C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.6C>T	19.37:g.10124179C>T							p.A2A	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		1	255	+			2					Q9H838	Silent	SNP	ENST00000171214.1	37	c.6C>T																																																																																					0.607	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				14	28	0	0	0	0	14	28				
OR7A17	26333	broad.mit.edu	37	19	14992152	14992152	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:14992152C>G	ENST00000327462.2	-	1	112	c.16G>C	c.(16-18)Gac>Cac	p.D6H		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATCCCTGTGTCATTCTCTGGT	0.363																																						uc010xob.1		NA																	0					0						c.(16-18)GAC>CAC		olfactory receptor, family 7, subfamily A,							26.0	24.0	25.0					19																	14992152		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14992152C>G	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.16G>C	19.37:g.14992152C>G	ENSP00000328144:p.Asp6His						p.D6H	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	16	-	Ovarian(108;0.203)		6			Extracellular (Potential).		Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.16G>C	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	c	2.692	-0.272984	0.05716	.	.	ENSG00000185385	ENST00000327462	T	0.00502	6.95	2.44	-3.7	0.04437	.	1.581610	0.04714	U	0.418095	T	0.00210	0.0006	N	0.02379	-0.575	0.09310	N	1	B	0.16603	0.018	B	0.26517	0.07	T	0.36138	-0.9760	10	0.18276	T	0.48	.	3.4743	0.07578	0.1466:0.2098:0.5177:0.1259	.	6	O14581	OR7AH_HUMAN	H	6	ENSP00000328144:D6H	ENSP00000328144:D6H	D	-	1	0	OR7A17	14853152	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.703000	0.00388	-0.572000	0.06006	0.388000	0.25769	GAC		0.363	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		9	13	0	0	0	0	9	13				
LSR	51599	broad.mit.edu	37	19	35757379	35757379	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:35757379C>A	ENST00000361790.3	+	6	1199	c.1040C>A	c.(1039-1041)cCt>cAt	p.P347H	USF2_ENST00000222305.3_5'Flank|LSR_ENST00000354900.3_Missense_Mutation_p.P328H|LSR_ENST00000602122.1_Missense_Mutation_p.P328H|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Missense_Mutation_p.P191H|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Missense_Mutation_p.P279H|LSR_ENST00000347609.4_Missense_Mutation_p.P310H	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	347					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCATGGGCCCTGCCTACAAC	0.627																																						uc002nyl.2		NA																	0					0						c.(1039-1041)CCT>CAT		lipolysis stimulated lipoprotein receptor							59.0	57.0	58.0					19																	35757379		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757379C>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1040C>A	19.37:g.35757379C>A	ENSP00000354575:p.Pro347His					LSR_uc002nym.2_Missense_Mutation_p.P328H|LSR_uc002nyn.2_Missense_Mutation_p.P279H|LSR_uc002nyo.2_Missense_Mutation_p.P328H|LSR_uc010xsr.1_Missense_Mutation_p.P239H|LSR_uc002nyp.2_Missense_Mutation_p.P310H|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank	p.P347H	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1263	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		347			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1040C>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800371	0.70567	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.72725	0.02;0.11;0.01;0.13;-0.68	3.68	3.68	0.42216	.	0.208574	0.41001	D	0.000962	T	0.79673	0.4486	L	0.58101	1.795	0.48511	D	0.999664	P;D;D;D;D;D	0.89917	0.845;1.0;0.999;1.0;1.0;0.999	B;D;D;D;D;D	0.87578	0.315;0.998;0.949;0.962;0.998;0.915	T	0.79176	-0.1911	10	0.40728	T	0.16	-9.2694	12.9443	0.58364	0.0:1.0:0.0:0.0	.	285;310;328;279;328;347	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	H	347;328;279;310;191	ENSP00000354575:P347H;ENSP00000346976:P328H;ENSP00000354034:P279H;ENSP00000262627:P310H;ENSP00000394479:P191H	ENSP00000262627:P310H	P	+	2	0	LSR	40449219	0.961000	0.32948	0.910000	0.35882	0.918000	0.54935	5.339000	0.65953	1.870000	0.54199	0.407000	0.27541	CCT		0.627	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		19	24	1	0	2.46e-09	2.73e-09	19	24				
FBXO27	126433	broad.mit.edu	37	19	39521762	39521762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:39521762C>T	ENST00000292853.4	-	4	598	c.479G>A	c.(478-480)tGg>tAg	p.W160*	FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W160*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W159*|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	160	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTTGCAACACCAGCTGGGAAT	0.537																																						uc002okh.2		NA																	0				ovary(1)	1						c.(478-480)TGG>TAG		F-box protein 27							147.0	131.0	137.0					19																	39521762		2203	4300	6503	SO:0001587	stop_gained	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521762C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.479G>A	19.37:g.39521762C>T	ENSP00000292853:p.Trp160*						p.W160*	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	561	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		160			FBA.		Q96C87	Nonsense_Mutation	SNP	ENST00000292853.4	37	c.479G>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356238	0.95854	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	.	.	.	3.99	2.93	0.34026	.	0.265926	0.26808	N	0.022396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.2694	9.7605	0.40530	0.0:0.7894:0.2106:0.0	.	.	.	.	X	160	.	ENSP00000292853:W160X	W	-	2	0	FBXO27	44213602	0.911000	0.30947	0.166000	0.22797	0.461000	0.32589	1.497000	0.35649	1.012000	0.39366	0.479000	0.44913	TGG		0.537	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			28	41	0	0	0	0	28	41				
PLEKHG2	64857	broad.mit.edu	37	19	39905661	39905661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:39905661C>T	ENST00000409794.3	+	3	989	c.139C>T	c.(139-141)Cga>Tga	p.R47*	PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.R47*	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	47					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTCCCCCCGAGGTTCTGG	0.652																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(139-141)CGA>TGA		common-site lymphoma/leukemia guanine nucleotide							9.0	9.0	9.0					19																	39905661		2162	4214	6376	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39905661C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.139C>T	19.37:g.39905661C>T	ENSP00000386733:p.Arg47*					PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Nonsense_Mutation_p.R47*|PLEKHG2_uc010xva.1_5'Flank	p.R47*	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		3	464	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		47					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.139C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	34	5.348547	0.95807	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000438123;ENST00000409797;ENST00000451354	.	.	.	4.98	1.39	0.22231	.	0.149124	0.28527	N	0.015037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6671	0.45736	0.529:0.471:0.0:0.0	.	.	.	.	X	47;47;47;48;47;48	.	ENSP00000367812:R47X	R	+	1	2	PLEKHG2	44597501	0.009000	0.17119	0.149000	0.22428	0.391000	0.30476	-0.017000	0.12590	0.057000	0.16193	0.313000	0.20887	CGA		0.652	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	3	0	0	0	0	4	3				
CADM4	199731	broad.mit.edu	37	19	44131798	44131798	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:44131798C>T	ENST00000222374.2	-	2	257	c.209G>A	c.(208-210)cGt>cAt	p.R70H	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	70	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCACTCACCACGGGTGCCATT	0.582																																						uc002oxc.1		NA																	0					0						c.(208-210)CGT>CAT		cell adhesion molecule 4 precursor							94.0	91.0	92.0					19																	44131798		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44131798C>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.209G>A	19.37:g.44131798C>T	ENSP00000222374:p.Arg70His						p.R70H	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			2	258	-		Prostate(69;0.0199)	70			Ig-like V-type.|Extracellular (Potential).		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.209G>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096477	0.94197	.	.	ENSG00000105767	ENST00000222374	T	0.66460	-0.21	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.64170	1.965	0.47407	D	0.999416	D	0.89917	1.0	D	0.85130	0.997	T	0.81616	-0.0852	10	0.72032	D	0.01	.	16.5097	0.84281	0.0:1.0:0.0:0.0	.	70	Q8NFZ8	CADM4_HUMAN	H	70	ENSP00000222374:R70H	ENSP00000222374:R70H	R	-	2	0	CADM4	48823638	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	6.498000	0.73679	2.560000	0.86352	0.591000	0.81541	CGT		0.582	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		21	68	0	0	0	0	21	68				
HIF3A	64344	broad.mit.edu	37	19	46842835	46842835	+	Missense_Mutation	SNP	G	G	A	rs143456536		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:46842835G>A	ENST00000377670.4	+	15	1997	c.1966G>A	c.(1966-1968)Ggg>Agg	p.G656R	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000339613.2_Missense_Mutation_p.G600R|HIF3A_ENST00000300862.3_Missense_Mutation_p.G654R|HIF3A_ENST00000244303.6_Missense_Mutation_p.G587R	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	656					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TACCCAGCCCGGGGGCCCCTT	0.577																																						uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1966-1968)GGG>AGG		hypoxia inducible factor 3, alpha subunit		G	ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	55.0	64.0	61.0		1759,1960,1966	-5.1	0.7	19	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense,missense	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3	125,125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	587/601,654/668,656/670	46842835	1,13005	2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46842835G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1966G>A	19.37:g.46842835G>A	ENSP00000366898:p.Gly656Arg					HIF3A_uc002pek.2_Missense_Mutation_p.G600R|HIF3A_uc010xxy.1_Missense_Mutation_p.G587R|HIF3A_uc002pel.2_Missense_Mutation_p.G654R	p.G656R	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	15	1995	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	656					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1966G>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.479591	0.00165	2.27E-4	0.0	ENSG00000124440	ENST00000377670;ENST00000244303;ENST00000339613;ENST00000300862	T;T;T;T	0.61040	0.87;0.14;0.76;0.87	3.9	-5.09	0.02920	.	2.597040	0.02281	N	0.069411	T	0.29288	0.0729	N	0.02539	-0.55	0.09310	N	0.999994	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.26677	-1.0096	10	0.51188	T	0.08	.	6.0369	0.19712	0.2223:0.4602:0.3174:0.0	.	587;654;656	B4DNA2;Q9Y2N7-2;Q9Y2N7	.;.;HIF3A_HUMAN	R	656;587;600;654	ENSP00000366898:G656R;ENSP00000244303:G587R;ENSP00000341877:G600R;ENSP00000300862:G654R	ENSP00000244303:G587R	G	+	1	0	HIF3A	51534675	0.522000	0.26266	0.746000	0.31095	0.007000	0.05969	-0.529000	0.06186	-0.642000	0.05480	-2.552000	0.00177	GGG		0.577	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			15	74	0	0	0	0	15	74				
ARHGAP35	2909	broad.mit.edu	37	19	47423751	47423751	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:47423751G>A	ENST00000404338.3	+	1	1819	c.1819G>A	c.(1819-1821)Ggc>Agc	p.G607S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	607					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGGCAAAGACGGCCTTGCCCG	0.433																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(1819-1821)GGC>AGC		glucocorticoid receptor DNA binding factor 1							146.0	142.0	143.0					19																	47423751		1875	4110	5985	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423751G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1819G>A	19.37:g.47423751G>A	ENSP00000385720:p.Gly607Ser						p.G607S	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1819	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	607					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1819G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582993	0.65992	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08720	3.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	M	0.76328	2.33	0.58432	D	0.999999	D	0.76494	0.999	D	0.70227	0.968	T	0.00307	-1.1830	10	0.62326	D	0.03	-31.129	19.1646	0.93551	0.0:0.0:1.0:0.0	.	607	Q9NRY4-2	.	S	607	ENSP00000385720:G607S	ENSP00000324820:G607S	G	+	1	0	ARHGAP35	52115591	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	8.008000	0.88588	2.824000	0.97209	0.655000	0.94253	GGC		0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		62	97	0	0	0	0	62	97				
C5AR1	728	broad.mit.edu	37	19	47823721	47823721	+	Silent	SNP	G	G	A	rs199885491		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:47823721G>A	ENST00000355085.3	+	2	709	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	229					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGCTCCGGACGTGGAGCCGCA	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19389	0.0		0.0	False		,,,				2504	0.0					uc002pgj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(685-687)ACG>ACA		complement component 5 receptor 1							94.0	92.0	93.0					19																	47823721		2203	4300	6503	SO:0001819	synonymous_variant	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823721G>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.687G>A	19.37:g.47823721G>A							p.T229T	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	736	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	229			Cytoplasmic (Potential).			Silent	SNP	ENST00000355085.3	37	c.687G>A	CCDS33063.1																																																																																				0.617	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		37	83	0	0	0	0	37	83				
CCDC114	93233	broad.mit.edu	37	19	48806034	48806034	+	Missense_Mutation	SNP	C	C	T	rs200697095		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:48806034C>T	ENST00000315396.7	-	10	1728	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	349					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTTGTCCATGCGCTGCTGCAA	0.632																																						uc002pir.2		NA																	0				ovary(1)	1						c.(1045-1047)CGC>CAC		coiled-coil domain containing 114 isoform 2			HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	96.0	89.0	92.0		1046	-2.5	0.0	19		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC114	NM_144577.3	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	349/671	48806034	4,13002	2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806034C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1046G>A	19.37:g.48806034C>T	ENSP00000318429:p.Arg349His					CCDC114_uc002piq.2_Missense_Mutation_p.R158H|CCDC114_uc002pio.2_Missense_Mutation_p.R386H|CCDC114_uc002pis.1_Missense_Mutation_p.R29H|CCDC114_uc002pit.1_Missense_Mutation_p.R386H	p.R349H	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	10	1729	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	349			Potential.		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1046G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	c	15.62	2.887877	0.52014	6.81E-4	1.16E-4	ENSG00000105479	ENST00000315396	T	0.32515	1.45	3.88	-2.47	0.06442	.	0.809025	0.10140	N	0.710991	T	0.16300	0.0392	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28470	0.086;0.213;0.086	B;B;B	0.13407	0.009;0.009;0.005	T	0.17077	-1.0381	10	0.59425	D	0.04	-1.3786	3.4848	0.07615	0.1795:0.3832:0.0:0.4373	.	142;349;349	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	H	349	ENSP00000318429:R349H	ENSP00000318429:R349H	R	-	2	0	CCDC114	53497846	0.038000	0.19896	0.012000	0.15200	0.032000	0.12392	-0.008000	0.12788	-0.468000	0.06922	0.538000	0.68166	CGC		0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		29	61	0	0	0	0	29	61				
NTF4	4909	broad.mit.edu	37	19	49564963	49564963	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:49564963C>G	ENST00000593537.1	-	1	291	c.292G>C	c.(292-294)Gat>Cat	p.D98H	CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000451356.2_Intron|CGB7_ENST00000356213.4_5'Flank|CGB7_ENST00000597853.1_5'Flank|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000301411.3_Missense_Mutation_p.D98H|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	98					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTGACTGCATCGCACACAGCC	0.697																																						uc002pmf.3		NA																	0					0						c.(292-294)GAT>CAT		neurotrophin 5 preproprotein							22.0	19.0	20.0					19																	49564963		2180	4258	6438	SO:0001583	missense	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564963C>G		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.292G>C	19.37:g.49564963C>G	ENSP00000469455:p.Asp98His					CGB7_uc010yah.1_Intron	p.D98H	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	433	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	98					Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	c.292G>C	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227750	0.58668	.	.	ENSG00000167744	ENST00000301411	T	0.72505	-0.66	3.54	3.54	0.40534	Nerve growth factor-related (5);	0.154914	0.40385	N	0.001113	D	0.83115	0.5184	M	0.78637	2.42	0.49130	D	0.999752	D	0.89917	1.0	D	0.75484	0.986	D	0.86282	0.1668	10	0.87932	D	0	-16.9592	14.7254	0.69341	0.0:1.0:0.0:0.0	.	98	P34130	NTF4_HUMAN	H	98	ENSP00000301411:D98H	ENSP00000301411:D98H	D	-	1	0	NTF4	54256775	1.000000	0.71417	0.933000	0.37362	0.574000	0.36063	5.822000	0.69265	1.945000	0.56424	0.313000	0.20887	GAT		0.697	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		6	15	0	0	0	0	6	15				
SIGLEC11	114132	broad.mit.edu	37	19	50461907	50461907	+	Silent	SNP	G	G	A	rs139230914	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:50461907G>A	ENST00000447370.2	-	7	1446	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	SIGLEC11_ENST00000426971.2_Silent_p.S452S|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	452	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACAGTGCACGGAGAGGCTGA	0.652													G|||	4	0.000798722	0.0	0.0	5008	,	,		18320	0.0		0.0	False		,,,				2504	0.0041					uc010ybh.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1354-1356)TCC>TCT		sialic acid binding Ig-like lectin 11 isoform 1							75.0	72.0	73.0					19																	50461907		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461907G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1356C>T	19.37:g.50461907G>A						SIGLEC11_uc010ybi.1_Silent_p.S452S	p.S452S	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1447	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	452			Ig-like C2-type 3.|Extracellular (Potential).			Silent	SNP	ENST00000447370.2	37	c.1356C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	6.930	0.541363	0.13250	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.1	-1.23	0.09465	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	.	2.5703	0.04793	0.5251:0.0:0.2704:0.2045	.	.	.	.	L	442	.	.	P	-	2	0	SIGLEC11	55153719	0.023000	0.18921	0.550000	0.28217	0.151000	0.21798	-0.436000	0.06922	-0.402000	0.07633	-0.471000	0.05019	CCG		0.652	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		21	89	0	0	0	0	21	89				
NLRP11	204801	broad.mit.edu	37	19	56321143	56321143	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:56321143C>A	ENST00000589093.1	-	3	926	c.833G>T	c.(832-834)aGg>aTg	p.R278M	NLRP11_ENST00000592953.1_Missense_Mutation_p.R179M|NLRP11_ENST00000589824.2_Missense_Mutation_p.R278M|NLRP11_ENST00000360133.3_Missense_Mutation_p.R278M|NLRP11_ENST00000443188.1_Missense_Mutation_p.R278M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	278	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACGTGTGGGCCTTGAGGAGAT	0.463																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(832-834)AGG>ATG		NLR family, pyrin domain containing 11							60.0	62.0	62.0					19																	56321143		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321143C>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.833G>T	19.37:g.56321143C>A	ENSP00000466285:p.Arg278Met					NLRP11_uc002qlz.2_Missense_Mutation_p.R179M|NLRP11_uc002qmb.2_Missense_Mutation_p.R179M|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.R278M	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1544	-		Colorectal(82;0.0002)	278			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.833G>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601431	0.28534	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	D;D	0.83250	-1.7;-1.7	2.37	0.115	0.14643	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.86793	0.6018	M	0.73430	2.235	0.09310	N	1	D;D	0.69078	0.997;0.994	D;D	0.67231	0.95;0.916	T	0.74090	-0.3777	9	0.62326	D	0.03	.	2.84	0.05526	0.0:0.4511:0.2484:0.3005	.	278;278	P59045;P59045-2	NAL11_HUMAN;.	M	278	ENSP00000409898:R278M;ENSP00000353251:R278M	ENSP00000353251:R278M	R	-	2	0	NLRP11	61012955	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.234000	0.17930	0.094000	0.17404	0.655000	0.94253	AGG		0.463	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		13	43	1	0	0.000151284	0.000164914	13	43				
ZNF749	388567	broad.mit.edu	37	19	57955756	57955756	+	Missense_Mutation	SNP	G	G	A	rs368025048		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:57955756G>A	ENST00000334181.4	+	3	1490	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAAGTGTAGCGAATGTGGGAA	0.428																																						uc002qoq.2		NA																	0					0						c.(1240-1242)GAA>AAA		zinc finger protein 749		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	95.0	94.0	94.0		1240	-3.4	0.0	19		94	0,8600		0,0,4300	no	missense	ZNF749	NM_001023561.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	414/779	57955756	1,13005	2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955756G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1240G>A	19.37:g.57955756G>A	ENSP00000333980:p.Glu414Lys					ZNF547_uc002qpm.3_Intron	p.E414K	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1494	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	414			C2H2-type 9.			Missense_Mutation	SNP	ENST00000334181.4	37	c.1240G>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662457	0.29515	2.27E-4	0.0	ENSG00000186230	ENST00000334181	T	0.07327	3.2	2.1	-3.41	0.04839	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	L	0.49256	1.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.36601	-0.9741	9	0.46703	T	0.11	.	4.6106	0.12401	0.4579:0.163:0.3791:0.0	.	414	O43361	ZN749_HUMAN	K	414	ENSP00000333980:E414K	ENSP00000333980:E414K	E	+	1	0	ZNF749	62647568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.785000	0.04628	-0.717000	0.04955	-0.459000	0.05422	GAA		0.428	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		26	58	0	0	0	0	26	58				
SNTG2	54221	broad.mit.edu	37	2	1271203	1271203	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:1271203G>C	ENST00000308624.5	+	14	1273	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.E255Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	382	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTTGACTTTGAGGACCAGAG	0.522																																						uc002qwq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(1144-1146)GAG>CAG		syntrophin, gamma 2							61.0	58.0	59.0					2																	1271203		1924	4135	6059	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271203G>C	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1144G>C	2.37:g.1271203G>C	ENSP00000311837:p.Glu382Gln					SNTG2_uc010ewi.2_Missense_Mutation_p.E255Q	p.E382Q	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1272	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	382			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1144G>C	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	9.410	1.080153	0.20309	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69175	1.16;-0.38	4.61	4.61	0.57282	Pleckstrin homology domain (1);	0.260617	0.38720	N	0.001594	T	0.58750	0.2144	L	0.50919	1.6	0.35070	D	0.762381	B;B	0.29988	0.264;0.055	B;B	0.24701	0.055;0.03	T	0.63804	-0.6554	10	0.13108	T	0.6	.	17.0422	0.86492	0.0:0.0:1.0:0.0	.	255;382	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	Q	382;255	ENSP00000311837:E382Q;ENSP00000385020:E255Q	ENSP00000311837:E382Q	E	+	1	0	SNTG2	1253784	1.000000	0.71417	0.030000	0.17652	0.799000	0.45148	3.880000	0.56145	2.076000	0.62316	0.655000	0.94253	GAG		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		9	12	0	0	0	0	9	12				
ADCY3	109	broad.mit.edu	37	2	25054533	25054533	+	Missense_Mutation	SNP	G	G	A	rs375408318		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:25054533G>A	ENST00000260600.5	-	11	2904	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	ADCY3_ENST00000405392.1_Missense_Mutation_p.R318W|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	685					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 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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCTCTTACCCGGGGAAAGATG	0.498																																						uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(2053-2055)CGG>TGG		adenylate cyclase 3		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	73.0	76.0		2053	4.5	1.0	2		76	0,8600		0,0,4300	no	missense	ADCY3	NM_004036.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	685/1145	25054533	1,13005	2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25054533G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2053C>T	2.37:g.25054533G>A	ENSP00000260600:p.Arg685Trp					ADCY3_uc002rfr.3_Missense_Mutation_p.R318W|ADCY3_uc010ykm.1_Missense_Mutation_p.R685W	p.R685W	NM_004036	NP_004027	O60266	ADCY3_HUMAN			11	2252	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		685					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2053C>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866298	0.71949	2.27E-4	0.0	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.4	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	L	0.29908	0.895	0.42803	D	0.993931	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.72338	0.919;0.965;0.977	D	0.84158	0.0427	10	0.72032	D	0.01	.	11.64	0.51227	0.0:0.0:0.5421:0.4579	.	685;685;318	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	W	685;318;660;24;28	ENSP00000260600:R685W;ENSP00000384484:R318W;ENSP00000402008:R24W;ENSP00000410972:R28W	ENSP00000260600:R685W	R	-	1	2	ADCY3	24908037	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.075000	0.30716	1.209000	0.43321	0.563000	0.77884	CGG		0.498	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			5	24	0	0	0	0	5	24				
TTC27	55622	broad.mit.edu	37	2	33036234	33036234	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:33036234G>A	ENST00000317907.4	+	17	2373	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCTGGAGGCTGTATGCCCACG	0.453																																						uc002rom.2		NA																	0				central_nervous_system(1)	1						c.(2140-2142)CTG>CTA		tetratricopeptide repeat domain 27							113.0	112.0	113.0					2																	33036234		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:33036234G>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2142G>A	2.37:g.33036234G>A						TTC27_uc010ymx.1_Silent_p.L664L|TTC27_uc002ron.2_RNA	p.L714L	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			17	2373	+			714			HAT 3.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.2142G>A	CCDS33176.1																																																																																				0.453	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		8	32	0	0	0	0	8	32				
ZNF638	27332	broad.mit.edu	37	2	71591185	71591185	+	Missense_Mutation	SNP	G	G	T	rs372490251		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:71591185G>T	ENST00000409544.1	+	5	2150	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	ZNF638_ENST00000264447.4_Missense_Mutation_p.R507L|ZNF638_ENST00000355812.3_Missense_Mutation_p.R507L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.R507L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	507	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGATTCCGTCGGTCTCGAAGC	0.453																																						uc002shx.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(1519-1521)CGG>CTG		zinc finger protein 638							133.0	123.0	127.0					2																	71591185		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71591185G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1520G>T	2.37:g.71591185G>T	ENSP00000386433:p.Arg507Leu					ZNF638_uc010fec.2_Missense_Mutation_p.R613L|ZNF638_uc010yqw.1_Missense_Mutation_p.R86L|ZNF638_uc002shw.2_Missense_Mutation_p.R507L|ZNF638_uc002shy.2_Missense_Mutation_p.R507L|ZNF638_uc002shz.2_Missense_Mutation_p.R507L|ZNF638_uc002sia.2_Missense_Mutation_p.R507L|ZNF638_uc002sib.1_Missense_Mutation_p.R507L|ZNF638_uc010fed.2_5'Flank	p.R507L	NM_014497	NP_055312	Q14966	ZN638_HUMAN			5	1839	+			507			Arg-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1520G>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828134	0.50845	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.76709	-0.45;-1.04;0.09;-0.44;1.07;1.07	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000011	T	0.81039	0.4740	L	0.27053	0.805	0.42160	D	0.991598	D;D;D;D;D;D	0.71674	0.997;0.997;0.997;0.998;0.997;0.997	D;D;D;D;D;D	0.80764	0.987;0.986;0.986;0.994;0.987;0.986	T	0.81306	-0.0992	10	0.45353	T	0.12	-6.9578	15.1409	0.72609	0.0:0.0:1.0:0.0	.	507;613;507;507;507;507	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	L	507;613;86;507;507;507;507	ENSP00000386669:R507L;ENSP00000438189:R613L;ENSP00000348066:R507L;ENSP00000367033:R507L;ENSP00000264447:R507L;ENSP00000386433:R507L	ENSP00000264447:R507L	R	+	2	0	ZNF638	71444693	0.995000	0.38212	0.960000	0.40013	0.468000	0.32798	5.337000	0.65941	2.658000	0.90341	0.585000	0.79938	CGG		0.453	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		24	45	1	0	4.27e-12	4.81e-12	24	45				
DYSF	8291	broad.mit.edu	37	2	71755438	71755438	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:71755438C>T	ENST00000258104.3	+	13	1468	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	DYSF_ENST00000409762.1_Silent_p.A428A|DYSF_ENST00000429174.2_Silent_p.A397A|DYSF_ENST00000409582.3_Silent_p.A428A|DYSF_ENST00000409744.1_Silent_p.A398A|DYSF_ENST00000413539.2_Silent_p.A428A|DYSF_ENST00000410020.3_Silent_p.A429A|DYSF_ENST00000409366.1_Silent_p.A398A|DYSF_ENST00000409651.1_Silent_p.A429A|DYSF_ENST00000410041.1_Silent_p.A429A|DYSF_ENST00000394120.2_Silent_p.A398A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	397	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGACGATGCCGTGATGGACA	0.542																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1189-1191)GCC>GCT		dysferlin isoform 8							118.0	86.0	97.0					2																	71755438		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71755438C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1191C>T	2.37:g.71755438C>T						DYSF_uc010feg.2_Silent_p.A428A|DYSF_uc010feh.2_Silent_p.A397A|DYSF_uc002sig.3_Silent_p.A397A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A397A|DYSF_uc010fef.2_Silent_p.A428A|DYSF_uc010fei.2_Silent_p.A428A|DYSF_uc010fek.2_Silent_p.A429A|DYSF_uc010fej.2_Silent_p.A398A|DYSF_uc010fel.2_Silent_p.A398A|DYSF_uc010feo.2_Silent_p.A429A|DYSF_uc010fem.2_Silent_p.A398A|DYSF_uc010fen.2_Silent_p.A429A|DYSF_uc002sif.2_Silent_p.A398A	p.A397A	NM_003494	NP_003485	O75923	DYSF_HUMAN			13	1567	+			397			Cytoplasmic (Potential).|C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1191C>T	CCDS1918.1																																																																																				0.542	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		7	16	0	0	0	0	7	16				
CNGA3	1261	broad.mit.edu	37	2	99013652	99013652	+	Silent	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:99013652G>T	ENST00000272602.2	+	7	2058	c.2019G>T	c.(2017-2019)ggG>ggT	p.G673G	CNGA3_ENST00000436404.2_Silent_p.G655G|CNGA3_ENST00000409937.1_Silent_p.G677G|CNGA3_ENST00000393504.1_Silent_p.G673G			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	673					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGGGTGGTGGGGACAAGCCCC	0.557																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(2017-2019)GGG>GGT		cyclic nucleotide gated channel alpha 3 isoform							37.0	40.0	39.0					2																	99013652		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013652G>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.2019G>T	2.37:g.99013652G>T						CNGA3_uc002syu.2_Silent_p.G655G|CNGA3_uc010fij.2_Silent_p.G677G	p.G673G	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2436	+			673					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.2019G>T	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		9	42	1	0	1.59e-06	1.74e-06	9	42				
SCTR	6344	broad.mit.edu	37	2	120194723	120194723	+	IGR	SNP	G	G	A	rs148211959	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:120194723G>A	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_Missense_Mutation_p.V94M|TMEM37_ENST00000409826.1_Missense_Mutation_p.V106M|TMEM37_ENST00000465296.1_3'UTR	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGTACGCAGCGTGGGCGCCTT	0.637													G|||	17	0.00339457	0.0113	0.0029	5008	,	,		14426	0.0		0.0	False		,,,				2504	0.0					uc002tly.2		NA																	0				breast(1)	1						c.(280-282)GTG>ATG		transmembrane protein 37		G	MET/VAL	39,4367	40.8+/-73.8	0,39,2164	78.0	75.0	76.0		280	-4.7	0.0	2	dbSNP_134	76	0,8600		0,0,4300	yes	missense	TMEM37	NM_183240.2	21	0,39,6464	AA,AG,GG		0.0,0.8852,0.2999	benign	94/191	120194723	39,12967	2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194723G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194723G>A							p.V94M	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			2	314	+			94					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.280G>A	CCDS2127.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	1.560	-0.536952	0.04082	0.008852	0.0	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.74	-4.67	0.03319	.	0.769049	0.11980	N	0.510908	T	0.09774	0.0240	N	0.05574	-0.02	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.34403	-0.9830	9	0.11182	T	0.66	-1.8398	9.3468	0.38113	0.704:0.1253:0.1707:0.0	.	94	Q8WXS4	CCGL_HUMAN	M	106;94	.	ENSP00000303148:V94M	V	+	1	0	TMEM37	119911193	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-1.006000	0.03671	-0.909000	0.03852	-0.254000	0.11334	GTG		0.637	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			21	68	0	0	0	0	21	68				
MYO7B	4648	broad.mit.edu	37	2	128384586	128384586	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:128384586G>A	ENST00000409816.2	+	30	4206	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	MYO7B_ENST00000428314.1_Missense_Mutation_p.V1392M|MYO7B_ENST00000389524.4_Missense_Mutation_p.V1392M|MYO7B_ENST00000409090.1_Missense_Mutation_p.V245M|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1392	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCACTGGCCGTGCGAGAGCA	0.612																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(4174-4176)GTG>ATG		myosin VIIB							23.0	26.0	25.0					2																	128384586		2002	4174	6176	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384586G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4174G>A	2.37:g.128384586G>A	ENSP00000386461:p.Val1392Met					MYO7B_uc002toq.1_Missense_Mutation_p.V245M|MYO7B_uc002tor.1_Missense_Mutation_p.V245M	p.V1392M	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	31	4227	+	Colorectal(110;0.1)		1392			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4174G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	16.93	3.257236	0.59321	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	4.88	4.01	0.46588	Band 4.1 domain (1);FERM domain (1);	0.068023	0.64402	N	0.000016	D	0.96617	0.8896	M	0.86097	2.795	0.39004	D	0.959414	D	0.89917	1.0	D	0.91635	0.999	D	0.97725	1.0199	10	0.72032	D	0.01	.	13.564	0.61806	0.075:0.0:0.925:0.0	.	1392	Q6PIF6	MYO7B_HUMAN	M	1392;1392;245;1392;245	ENSP00000374175:V1392M;ENSP00000415090:V1392M;ENSP00000386461:V1392M;ENSP00000386850:V245M	ENSP00000272666:V245M	V	+	1	0	MYO7B	128101056	1.000000	0.71417	0.146000	0.22360	0.207000	0.24258	4.811000	0.62606	1.329000	0.45376	-0.221000	0.12465	GTG		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		7	7	0	0	0	0	7	7				
LCT	3938	broad.mit.edu	37	2	136575003	136575003	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:136575003T>C	ENST00000264162.2	-	6	1625	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	539	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCATGGAAGGTCACCCACAGC	0.587																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1615-1617)ACC>GCC		lactase-phlorizin hydrolase preproprotein							106.0	95.0	99.0					2																	136575003		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575003T>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1615A>G	2.37:g.136575003T>C	ENSP00000264162:p.Thr539Ala						p.T539A	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1626	-			539			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1615A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	33	5.250811	0.95305	.	.	ENSG00000115850	ENST00000264162	T	0.56776	0.44	5.49	5.49	0.81192	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.103092	0.64402	D	0.000003	D	0.83147	0.5191	H	0.99169	4.455	0.58432	D	0.999999	D	0.59357	0.985	P	0.62740	0.906	D	0.90483	0.4461	10	0.87932	D	0	-18.1551	15.8848	0.79238	0.0:0.0:0.0:1.0	.	539	P09848	LPH_HUMAN	A	539	ENSP00000264162:T539A	ENSP00000264162:T539A	T	-	1	0	LCT	136291473	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.209000	0.71365	0.459000	0.35465	ACC		0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		12	36	0	0	0	0	12	36				
GALNT3	2591	broad.mit.edu	37	2	166627124	166627124	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:166627124G>T	ENST00000392701.3	-	2	862	c.87C>A	c.(85-87)ttC>ttA	p.F29L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	29					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTATTATAAAGAAAAAAATTA	0.308																																						uc010fph.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(85-87)TTC>TTA		polypeptide N-acetylgalactosaminyltransferase 3							34.0	41.0	38.0					2																	166627124		2186	4290	6476	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166627124G>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.87C>A	2.37:g.166627124G>T	ENSP00000376465:p.Phe29Leu					GALNT3_uc010fpi.1_Missense_Mutation_p.F29L|GALNT3_uc002udi.2_Missense_Mutation_p.F29L	p.F29L	NM_004482	NP_004473	Q14435	GALT3_HUMAN			2	474	-			29			Helical; Signal-anchor for type II membrane protein; (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.87C>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356285	0.24598	.	.	ENSG00000115339	ENST00000392701;ENST00000412248;ENST00000431484;ENST00000414977	T;T;T;T	0.77877	0.71;0.43;1.87;-1.13	5.8	4.92	0.64577	.	0.506389	0.22100	N	0.064622	T	0.59142	0.2172	N	0.14661	0.345	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.52571	-0.8558	10	0.18276	T	0.48	.	9.6144	0.39683	0.0705:0.0:0.7884:0.1411	.	29;29	Q14435;Q14435-2	GALT3_HUMAN;.	L	29	ENSP00000376465:F29L;ENSP00000412643:F29L;ENSP00000397112:F29L;ENSP00000413477:F29L	ENSP00000376465:F29L	F	-	3	2	GALNT3	166335370	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.199000	0.32235	1.454000	0.47793	0.650000	0.86243	TTC		0.308	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		10	22	1	0	0.000442599	0.000471154	10	22				
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:204305768A>G	ENST00000319170.5	-	14	2444	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P767P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	715					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggaggagggggagggg	0.622																																						uc002vad.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2143-2145)CCT>CCC		Ras association and pleckstrin homology domains							15.0	20.0	18.0					2																	204305768		2144	4244	6388	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305768A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2145T>C	2.37:g.204305768A>G							p.P715P	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2370	-			715					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2145T>C	CCDS2359.1																																																																																				0.622	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		5	21	0	0	0	0	5	21				
SLC19A3	80704	broad.mit.edu	37	2	228563678	228563678	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:228563678G>A	ENST00000258403.3	-	3	824	c.753C>T	c.(751-753)agC>agT	p.S251S	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.S247S	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	251					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TTGGTTTCAGGCTGTTCAGCT	0.473																																						uc002vpi.2		NA																	0				ovary(2)	2						c.(751-753)AGC>AGT		solute carrier family 19, member 3	L-Cysteine(DB00151)						155.0	135.0	142.0					2																	228563678		2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563678G>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.753C>T	2.37:g.228563678G>A						SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.S247S	p.S251S	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	842	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	251			Cytoplasmic (Potential).			Silent	SNP	ENST00000258403.3	37	c.753C>T	CCDS2468.1																																																																																				0.473	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			22	40	0	0	0	0	22	40				
HES6	55502	broad.mit.edu	37	2	239147619	239147619	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:239147619G>A	ENST00000272937.5	-	4	742	c.524C>T	c.(523-525)cCg>cTg	p.P175L	HES6_ENST00000409182.1_Missense_Mutation_p.P146L|HES6_ENST00000409002.3_Missense_Mutation_p.P173L|HES6_ENST00000409160.3_3'UTR|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_3'UTR					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCCAGGACCCGGGGGGCTGGG	0.726																																						uc002vxz.2		NA																	0				skin(1)	1						c.(523-525)CCG>CTG		hairy and enhancer of split 6 isoform a							6.0	8.0	8.0					2																	239147619		2137	4211	6348	SO:0001583	missense	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147619G>A	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.524C>T	2.37:g.239147619G>A	ENSP00000272937:p.Pro175Leu					HES6_uc002vya.2_Missense_Mutation_p.P173L|HES6_uc002vyb.2_3'UTR	p.P175L	NM_018645	NP_061115	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	4	659	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	175						Missense_Mutation	SNP	ENST00000272937.5	37	c.524C>T	CCDS2527.1	.	.	.	.	.	.	.	.	.	.	G	4.883	0.164184	0.09287	.	.	ENSG00000144485	ENST00000272937;ENST00000409002;ENST00000409182	T;T;T	0.31247	2.22;2.22;1.5	2.67	0.739	0.18324	.	1.361560	0.05060	U	0.479752	T	0.16981	0.0408	N	0.19112	0.55	0.22001	N	0.999426	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.23119	-1.0197	10	0.13853	T	0.58	.	3.4321	0.07432	0.1701:0.3036:0.5263:0.0	.	173;175	Q96HZ4-3;Q96HZ4	.;HES6_HUMAN	L	175;173;146	ENSP00000272937:P175L;ENSP00000387155:P173L;ENSP00000387343:P146L	ENSP00000272937:P175L	P	-	2	0	HES6	238812358	0.016000	0.18221	0.031000	0.17742	0.006000	0.05464	1.393000	0.34497	0.448000	0.26722	0.455000	0.32223	CCG		0.726	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	NM_018645		5	13	0	0	0	0	5	13				
LAMP5	24141	broad.mit.edu	37	20	9510395	9510395	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:9510395C>T	ENST00000246070.2	+	6	1263	c.771C>T	c.(769-771)caC>caT	p.H257H	LAMP5_ENST00000427562.2_Silent_p.H213H	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	257						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CGATTTACCACGTCCACCACA	0.552																																						uc002wni.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(769-771)CAC>CAT		chromosome 20 open reading frame 103 precursor							136.0	108.0	118.0					20																	9510395		2203	4300	6503	SO:0001819	synonymous_variant	24141					integral to membrane		g.chr20:9510395C>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.771C>T	20.37:g.9510395C>T						C20orf103_uc010zrc.1_Silent_p.H213H	p.H257H	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1000	+			257			Cytoplasmic (Potential).		B4DHZ7|B7Z9Z9	Silent	SNP	ENST00000246070.2	37	c.771C>T	CCDS13106.1																																																																																				0.552	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		12	41	0	0	0	0	12	41				
CSRP2BP	57325	broad.mit.edu	37	20	18123437	18123437	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:18123437C>G	ENST00000435364.3	+	1	474	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	CSRP2BP_ENST00000489634.2_5'Flank|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.Q45E|PET117_ENST00000432901.3_3'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	45					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCGAGGATCAGGCATCAGT	0.547																																						uc002wqj.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(133-135)CAG>GAG		CSRP2 binding protein							193.0	134.0	154.0					20																	18123437		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18123437C>G	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.133C>G	20.37:g.18123437C>G	ENSP00000392318:p.Gln45Glu					CSRP2BP_uc002wqk.2_5'Flank	p.Q45E	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			2	755	+			45					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.133C>G	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484104	0.44147	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.14516	2.5;2.5;2.5	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	N	0.25647	0.755	0.80722	D	1	P	0.49447	0.924	P	0.62298	0.9	T	0.01734	-1.1285	10	0.02654	T	1	-21.1206	14.4782	0.67562	0.0:0.9292:0.0:0.0708	.	45	Q9H8E8	CSR2B_HUMAN	E	45	ENSP00000278816:Q45E;ENSP00000366909:Q45E;ENSP00000392318:Q45E	ENSP00000278816:Q45E	Q	+	1	0	CSRP2BP	18071437	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	7.244000	0.78228	1.449000	0.47699	-0.251000	0.11542	CAG		0.547	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		11	103	0	0	0	0	11	103				
BPIFB1	92747	broad.mit.edu	37	20	31876618	31876618	+	Missense_Mutation	SNP	C	C	T	rs201145500		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:31876618C>T	ENST00000253354.1	+	3	348	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	63					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CAGTGCCATGCGGGAAAAGCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19611	0.0		0.001	False		,,,				2504	0.0					uc002wyw.1		NA																	0				central_nervous_system(2)|skin(2)	4						c.(187-189)CGG>TGG		LPLUNC1 protein precursor		C	TRP/ARG	0,4406		0,0,2203	58.0	48.0	52.0		187	-2.1	0.0	20		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFB1	NM_033197.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	63/485	31876618	1,13005	2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31876618C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.187C>T	20.37:g.31876618C>T	ENSP00000253354:p.Arg63Trp					C20orf114_uc010gej.1_Missense_Mutation_p.R63W	p.R63W	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			3	348	+			63					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.187C>T	CCDS13218.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.88	3.245583	0.59103	0.0	1.16E-4	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.05855	3.38;3.38	5.34	-2.08	0.07254	.	1.443680	0.04129	N	0.317563	T	0.14227	0.0344	L	0.47716	1.5	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.57846	0.828;0.828	T	0.38824	-0.9643	10	0.66056	D	0.02	-0.1438	8.6831	0.34221	0.509:0.2415:0.2495:0.0	.	63;63	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	W	63	ENSP00000390471:R63W;ENSP00000253354:R63W	ENSP00000253354:R63W	R	+	1	2	BPIFB1	31340279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.107000	0.15375	-0.091000	0.12440	-0.182000	0.12963	CGG		0.627	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		10	41	0	0	0	0	10	41				
MATN4	8785	broad.mit.edu	37	20	43930045	43930045	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:43930045G>A	ENST00000372754.1	-	4	813	c.805C>T	c.(805-807)Cac>Tac	p.H269Y	MATN4_ENST00000372756.1_Missense_Mutation_p.H228Y|MATN4_ENST00000342716.4_Missense_Mutation_p.H228Y|MATN4_ENST00000537548.1_Missense_Mutation_p.H228Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000360607.6_Intron|MATN4_ENST00000372751.4_Missense_Mutation_p.H79Y			O95460	MATN4_HUMAN	matrilin 4	269	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACGCAGTGGTGCTCACATCCA	0.557																																						uc002xnn.2		NA																	0					0						c.(682-684)CAC>TAC		matrilin 4 isoform 1 precursor							72.0	63.0	66.0					20																	43930045		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43930045G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.805C>T	20.37:g.43930045G>A	ENSP00000361840:p.His269Tyr					MATN4_uc002xno.2_Intron|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.H176Y|MATN4_uc002xnr.1_Missense_Mutation_p.H228Y	p.H228Y	NM_003833	NP_003824	O95460	MATN4_HUMAN			4	869	-		Myeloproliferative disorder(115;0.0122)	269			EGF-like 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.682C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.202752	0.94997	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.89	5.89	0.94794	.	0.000000	0.46145	D	0.000308	D	0.92277	0.7550	M	0.84326	2.69	0.58432	D	0.999999	D	0.57571	0.98	P	0.59761	0.863	D	0.92700	0.6174	10	0.87932	D	0	.	19.3093	0.94179	0.0:0.0:1.0:0.0	.	228	O95460-2	.	Y	79;269;228;228;228;269;79	ENSP00000361839:H79Y;ENSP00000361840:H269Y;ENSP00000361842:H228Y;ENSP00000343164:H228Y;ENSP00000440328:H228Y;ENSP00000361837:H79Y	ENSP00000255132:H269Y	H	-	1	0	MATN4	43363459	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	9.868000	0.99621	2.810000	0.96702	0.650000	0.86243	CAC		0.557	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			22	32	0	0	0	0	22	32				
PARD6B	84612	broad.mit.edu	37	20	49354499	49354499	+	Missense_Mutation	SNP	G	G	A	rs142377445	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:49354499G>A	ENST00000371610.2	+	2	415	c.172G>A	c.(172-174)Gtt>Att	p.V58I	PARD6B_ENST00000396039.1_Missense_Mutation_p.V58I	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	58	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAATGTTGACGTTTTGGTAGG	0.383																																						uc002xvo.2		NA																	0				kidney(1)	1						c.(172-174)GTT>ATT		PAR-6 beta		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96.0	92.0	94.0		172	4.2	0.8	20	dbSNP_134	94	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PARD6B	NM_032521.2	29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	possibly-damaging	58/373	49354499	5,13001	2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49354499G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.172G>A	20.37:g.49354499G>A	ENSP00000360672:p.Val58Ile						p.V58I	NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN			2	415	+			58			OPR.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.172G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334874	0.60853	2.27E-4	4.65E-4	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.23950	1.88;1.88	6.16	4.23	0.50019	Phox/Bem1p (2);	0.062075	0.64402	D	0.000004	T	0.21761	0.0524	L	0.42245	1.32	0.46823	D	0.999219	P	0.39094	0.659	B	0.36845	0.234	T	0.01879	-1.1255	10	0.36615	T	0.2	-31.6192	11.7943	0.52090	0.1392:0.0:0.8608:0.0	.	58	Q9BYG5	PAR6B_HUMAN	I	58	ENSP00000360672:V58I;ENSP00000379354:V58I	ENSP00000360672:V58I	V	+	1	0	PARD6B	48787906	1.000000	0.71417	0.782000	0.31804	0.949000	0.60115	5.690000	0.68241	0.938000	0.37419	0.650000	0.86243	GTT		0.383	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		35	37	0	0	0	0	35	37				
GNAS	2778	broad.mit.edu	37	20	57415178	57415178	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:57415178G>A	ENST00000313949.7	+	1	406	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	GNAS_ENST00000371098.2_Missense_Mutation_p.R6Q|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R6Q			P63092	GNAS2_HUMAN	GNAS complex locus	0				N -> T (in Ref. 3; CAA30084). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGGAGGTCCCGGGCTCAGCAG	0.667			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzt.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(16-18)CGG>CAG		GNAS complex locus NESP55							30.0	38.0	36.0					20																	57415178		2197	4285	6482	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415178G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.17G>A	20.37:g.57415178G>A	ENSP00000323571:p.Arg6Gln	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	p.R6Q	NM_016592	NP_057676	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	384	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.17G>A	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579531	0.65878	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	T	0.61035	0.2315	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.64377	-0.6422	8	0.87932	D	0	.	11.3582	0.49627	0.0:0.0:1.0:0.0	.	6	O95467	GNAS3_HUMAN	Q	6	.	ENSP00000323571:R6Q	R	+	2	0	GNAS	56848573	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.731000	0.55013	2.406000	0.81754	0.484000	0.47621	CGG		0.667	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		30	30	0	0	0	0	30	30				
GNAS	2778	broad.mit.edu	37	20	57430002	57430002	+	Missense_Mutation	SNP	G	G	A	rs553453544		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:57430002G>A	ENST00000371100.4	+	1	2234	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A498T|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.R561H|GNAS_ENST00000371102.4_Missense_Mutation_p.R561H|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCGCGGCCGCCGCGTGTAC	0.687			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(1681-1683)CGC>CAC		GNAS complex locus XLas							6.0	9.0	8.0					20																	57430002		2048	4109	6157	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57430002G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1682G>A	20.37:g.57430002G>A	ENSP00000360141:p.Arg561His	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.R561H	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1967	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1682G>A	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.014|0.014	-1.588611|-1.588611	0.00864|0.00864	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102	.|D;D	.|0.88896	.|-2.44;-2.43	2.38|2.38	0.372|0.372	0.16173|0.16173	.|.	.|3.118630	.|0.01052	.|N	.|0.004483	D|D	0.84370|0.84370	0.5457|0.5457	L|L	0.46157|0.46157	1.445|1.445	0.21184|0.21184	N|N	0.999764|0.999764	.|B	.|0.11235	.|0.004	.|B	.|0.01281	.|0.0	T|T	0.65290|0.65290	-0.6204|-0.6204	6|10	0.12766|0.56958	T|D	0.61|0.05	.|.	2.2837|2.2837	0.04121|0.04121	0.2989:0.0:0.4583:0.2429|0.2989:0.0:0.4583:0.2429	.|.	.|561	.|Q5JWF2	.|GNAS1_HUMAN	T|H	498|561	.|ENSP00000360141:R561H;ENSP00000360143:R561H	ENSP00000302237:A498T|ENSP00000360140:R561H	A|R	+|+	1|2	0|0	GNAS|GNAS	56863397|56863397	0.015000|0.015000	0.18098|0.18098	0.003000|0.003000	0.11579|0.11579	0.014000|0.014000	0.08584|0.08584	1.072000|1.072000	0.30678|0.30678	0.101000|0.101000	0.17610|0.17610	-0.379000|-0.379000	0.06801|0.06801	GCC|CGC		0.687	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		5	4	0	0	0	0	5	4				
BIRC7	79444	broad.mit.edu	37	20	61870794	61870794	+	Missense_Mutation	SNP	G	G	T	rs201155031		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:61870794G>T	ENST00000217169.3	+	6	948	c.734G>T	c.(733-735)cGg>cTg	p.R245L	BIRC7_ENST00000342412.6_Missense_Mutation_p.R227L|MIR3196_ENST00000579556.1_RNA|NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000395306.1_Missense_Mutation_p.R140L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	245					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGCTGCGGCGGCTGCAGGAG	0.692																																						uc002yej.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(733-735)CGG>CTG		livin inhibitor of apoptosis isoform alpha							64.0	65.0	64.0					20																	61870794		2203	4298	6501	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61870794G>T	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.734G>T	20.37:g.61870794G>T	ENSP00000217169:p.Arg245Leu					BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.R227L	p.R245L	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN			6	907	+	all_cancers(38;2.72e-09)		245					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.734G>T	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328157	0.24080	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.65178	3.82;3.82;-0.14	4.62	-0.452	0.12205	Baculoviral inhibition of apoptosis protein repeat (1);	0.378699	0.19068	N	0.123564	T	0.43942	0.1270	N	0.19112	0.55	0.35650	D	0.811715	B;P	0.40302	0.319;0.712	B;B	0.41571	0.048;0.36	T	0.46133	-0.9213	10	0.27082	T	0.32	.	9.9841	0.41830	0.5085:0.0:0.4915:0.0	.	245;227	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	L	227;245;140	ENSP00000345213:R227L;ENSP00000217169:R245L;ENSP00000378717:R140L	ENSP00000217169:R245L	R	+	2	0	BIRC7	61341239	0.946000	0.32159	0.580000	0.28601	0.003000	0.03518	0.649000	0.24843	0.036000	0.15547	-0.216000	0.12614	CGG		0.692	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		27	31	1	0	4.39e-27	5.03e-27	27	31				
DSCAM	1826	broad.mit.edu	37	21	41561106	41561106	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr21:41561106C>T	ENST00000400454.1	-	12	2893	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	806	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E806K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTCATCTCCTTTTTCTGC	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(2416-2418)GAG>AAG		Down syndrome cell adhesion molecule isoform							97.0	99.0	98.0					21																	41561106		2022	4177	6199	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41561106C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2416G>A	21.37:g.41561106C>T	ENSP00000383303:p.Glu806Lys					DSCAM_uc002yyr.1_RNA	p.E806K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			12	2868	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	806			Ig-like C2-type 9.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2416G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724250	0.30593	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.124068	0.53938	D	0.000043	T	0.33556	0.0867	L	0.37630	1.12	0.35065	D	0.761905	B	0.11235	0.004	B	0.14023	0.01	T	0.34875	-0.9811	10	0.06494	T	0.89	.	18.9074	0.92467	0.0:1.0:0.0:0.0	.	806	O60469	DSCAM_HUMAN	K	806;558	ENSP00000383303:E806K;ENSP00000385342:E558K	ENSP00000383303:E806K	E	-	1	0	DSCAM	40482976	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	3.067000	0.50010	2.441000	0.82636	0.561000	0.74099	GAG		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		23	45	0	0	0	0	23	45				
NF2	4771	broad.mit.edu	37	22	30061031	30061031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr22:30061031C>G	ENST00000338641.4	+	9	1304	c.863C>G	c.(862-864)tCa>tGa	p.S288*	NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205*|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	288	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTAACTCCTCAAAGCTTCGT	0.353			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3		NA	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		4	Unknown(3)|Deletion - In frame(1)	p.L127_D382del(1)|p.F271_L295del(1)|p.?(1)	central_nervous_system(2)|large_intestine(1)|stomach(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						c.(862-864)TCA>TGA		neurofibromin 2 isoform 1							117.0	107.0	111.0					22																	30061031		2203	4300	6503	SO:0001587	stop_gained	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30061031C>G	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.863C>G	22.37:g.30061031C>G	ENSP00000344666:p.Ser288*					NF2_uc003afy.3_Nonsense_Mutation_p.S288*|NF2_uc003afz.3_Nonsense_Mutation_p.S205*|NF2_uc003agf.3_Nonsense_Mutation_p.S288*|NF2_uc003agb.3_Nonsense_Mutation_p.S211*|NF2_uc003agc.3_Nonsense_Mutation_p.S250*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.S288*|NF2_uc003aga.3_Nonsense_Mutation_p.S246*|NF2_uc003agh.3_Nonsense_Mutation_p.S247*|NF2_uc003agi.3_Nonsense_Mutation_p.S205*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.S250*|NF2_uc010gvp.2_5'UTR	p.S288*	NM_000268	NP_000259	P35240	MERL_HUMAN			9	1306	+			288			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	c.863C>G	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	c	40	8.251330	0.98727	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.8	5.8	0.92144	.	0.061259	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0872	0.97801	0.0:1.0:0.0:0.0	.	.	.	.	X	129;288;288;247;288;288;205;205;288;246;288	.	.	S	+	2	0	NF2	28391031	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.580000	0.82523	2.755000	0.94549	0.550000	0.68814	TCA		0.353	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		2	9	0	0	0	0	2	9				
MYH9	4627	broad.mit.edu	37	22	36708123	36708123	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr22:36708123C>T	ENST00000216181.5	-	14	1929	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	567	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATGCAGAAATCAGCTTTGTCC	0.582			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1699-1701)GAT>AAT		myosin, heavy polypeptide 9, non-muscle							166.0	128.0	141.0					22																	36708123		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708123C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1699G>A	22.37:g.36708123C>T	ENSP00000216181:p.Asp567Asn					MYH9_uc003aph.1_Missense_Mutation_p.D431N	p.D567N	NM_002473	NP_002464	P35579	MYH9_HUMAN			14	1930	-			567			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1699G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778529	0.90195	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.86865	-2.18	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	M	0.76328	2.33	0.80722	D	1	D	0.65815	0.995	D	0.69824	0.966	D	0.93987	0.7263	10	0.87932	D	0	.	17.0932	0.86627	0.0:1.0:0.0:0.0	.	567	P35579	MYH9_HUMAN	N	431;567	ENSP00000216181:D567N	ENSP00000216181:D567N	D	-	1	0	MYH9	35038069	1.000000	0.71417	0.965000	0.40720	0.680000	0.39746	7.780000	0.85658	2.186000	0.69663	0.561000	0.74099	GAT		0.582	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		27	28	0	0	0	0	27	28				
ITGA9	3680	broad.mit.edu	37	3	37523001	37523001	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:37523001C>T	ENST00000264741.5	+	4	703	c.447C>T	c.(445-447)atC>atT	p.I149I	ITGA9_ENST00000422441.1_Silent_p.I149I	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	149					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAAGAACATCTACTATGAAG	0.532																																						uc003chd.2		NA																	0				breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(445-447)ATC>ATT		integrin, alpha 9 precursor							258.0	225.0	236.0					3																	37523001		2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37523001C>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.447C>T	3.37:g.37523001C>T						ITGA9_uc003chc.2_Silent_p.I149I	p.I149I	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	4	500	+			149			Extracellular (Potential).|FG-GAP 2.		Q14638	Silent	SNP	ENST00000264741.5	37	c.447C>T	CCDS2669.1																																																																																				0.532	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		11	70	0	0	0	0	11	70				
FLNB	2317	broad.mit.edu	37	3	58145386	58145386	+	Missense_Mutation	SNP	G	G	A	rs139262140		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58145386G>A	ENST00000295956.4	+	42	7159	c.6994G>A	c.(6994-6996)Gag>Aag	p.E2332K	FLNB_ENST00000429972.2_Missense_Mutation_p.E2321K|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.E2139K|FLNB_ENST00000419752.2_Missense_Mutation_p.E2152K|FLNB_ENST00000490882.1_Missense_Mutation_p.E2363K|FLNB_ENST00000358537.3_Missense_Mutation_p.E2308K|FLNB_ENST00000348383.5_Missense_Mutation_p.E2291K|FLNB-AS1_ENST00000488720.1_RNA	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2332	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCCGTGGAGGAGTGCCACGT	0.552																																						uc003djj.2		NA																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(6994-6996)GAG>AAG		filamin B isoform 2		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	37.0	38.0	38.0		7087,6961,6922,6994	5.9	1.0	3	dbSNP_134	38	1,8599		0,1,4299	no	missense,missense,missense,missense	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	2363/2634,2321/2592,2308/2579,2332/2603	58145386	1,13005	2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58145386G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6994G>A	3.37:g.58145386G>A	ENSP00000295956:p.Glu2332Lys					FLNB_uc010hne.2_Missense_Mutation_p.E2363K|FLNB_uc003djk.2_Missense_Mutation_p.E2321K|FLNB_uc010hnf.2_Missense_Mutation_p.E2308K|FLNB_uc003djl.2_Missense_Mutation_p.E2152K|FLNB_uc003djm.2_Missense_Mutation_p.E2139K	p.E2332K	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	42	7159	+			2332			Filamin 22.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6994G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226819	0.95173	0.0	1.16E-4	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.87	5.87	0.94306	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043124	0.85682	D	0.000000	D	0.92951	0.7757	M	0.67517	2.055	0.80722	D	1	B;P;B;B;B;B	0.35894	0.018;0.526;0.039;0.016;0.039;0.039	B;P;B;B;B;B	0.50082	0.036;0.63;0.173;0.049;0.173;0.173	D	0.92348	0.5887	10	0.87932	D	0	.	20.2788	0.98501	0.0:0.0:1.0:0.0	.	2308;2363;2139;2152;2321;2332	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	2332;2363;2308;2321;2291;2139;2152	ENSP00000295956:E2332K;ENSP00000420213:E2363K;ENSP00000351339:E2308K;ENSP00000415599:E2321K;ENSP00000232447:E2291K;ENSP00000418510:E2139K;ENSP00000414532:E2152K	ENSP00000295956:E2332K	E	+	1	0	FLNB	58120426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.824000	0.75288	2.788000	0.95919	0.650000	0.86243	GAG		0.552	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		4	31	0	0	0	0	4	31				
PXK	54899	broad.mit.edu	37	3	58395289	58395289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58395289C>T	ENST00000356151.2	+	15	1448	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	PXK_ENST00000463280.1_Nonsense_Mutation_p.Q414*|PXK_ENST00000383716.3_Nonsense_Mutation_p.Q414*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q430*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q430*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q447*|PXK_ENST00000383715.4_Nonsense_Mutation_p.Q430*|PXK_ENST00000536660.1_Nonsense_Mutation_p.Q310*	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GACAAGAGCTCAGTCCCACCA	0.418																																						uc003djz.1		NA																	0				ovary(1)	1						c.(1339-1341)CAG>TAG		PX domain containing serine/threonine kinase							64.0	63.0	64.0					3																	58395289		2203	4300	6503	SO:0001587	stop_gained	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395289C>T	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1339C>T	3.37:g.58395289C>T	ENSP00000348472:p.Gln447*					PXK_uc003djx.1_Nonsense_Mutation_p.Q447*|PXK_uc003djy.1_Nonsense_Mutation_p.Q430*|PXK_uc003dka.1_Nonsense_Mutation_p.Q447*|PXK_uc003dkb.1_Nonsense_Mutation_p.Q364*|PXK_uc003dkc.1_Nonsense_Mutation_p.Q430*|PXK_uc011bfe.1_Nonsense_Mutation_p.Q414*|PXK_uc010hnj.1_Nonsense_Mutation_p.Q414*|PXK_uc003dkd.1_Nonsense_Mutation_p.Q310*|PXK_uc010hnk.1_Nonsense_Mutation_p.Q221*	p.Q447*	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	15	1438	+			447			Protein kinase.			Nonsense_Mutation	SNP	ENST00000356151.2	37	c.1339C>T	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	C	38	6.979168	0.97979	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.	.	.	5.75	3.86	0.44501	.	0.052115	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-15.4167	9.9459	0.41609	0.1372:0.7906:0.0:0.0723	.	.	.	.	X	447;430;414;414;430;447;430;310;310	.	ENSP00000305045:Q430X	Q	+	1	0	PXK	58370329	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	4.149000	0.58091	1.556000	0.49512	0.637000	0.83480	CAG		0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		4	27	0	0	0	0	4	27				
ACOX2	8309	broad.mit.edu	37	3	58516345	58516345	+	Silent	SNP	G	G	A	rs142094321	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58516345G>A	ENST00000302819.5	-	8	1131	c.840C>T	c.(838-840)taC>taT	p.Y280Y	ACOX2_ENST00000459701.2_Silent_p.Y266Y	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	280					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGAGTTTGACGTAGGTGCCAT	0.597																																						uc003dkl.2		NA																	0					0						c.(838-840)TAC>TAT		acyl-Coenzyme A oxidase 2		G		0,4406		0,0,2203	200.0	137.0	158.0		840	2.8	0.5	3	dbSNP_134	158	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ACOX2	NM_003500.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		280/682	58516345	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58516345G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.840C>T	3.37:g.58516345G>A							p.Y280Y	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	8	1015	-			280					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.840C>T	CCDS33775.1																																																																																				0.597	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			7	16	0	0	0	0	7	16				
KBTBD12	166348	broad.mit.edu	37	3	127703084	127703084	+	Missense_Mutation	SNP	C	C	T	rs552334735		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:127703084C>T	ENST00000405109.1	+	6	2302	c.1835C>T	c.(1834-1836)cCg>cTg	p.P612L	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.P612L|KBTBD12_ENST00000407609.3_Missense_Mutation_p.P219L|KBTBD12_ENST00000343941.4_Missense_Mutation_p.P187L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	612										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCATCCCCCCGCCTTCAGAT	0.537																																						uc010hsr.2		NA																	0				ovary(1)	1						c.(1834-1836)CCG>CTG		kelch domain containing 6							105.0	96.0	99.0					3																	127703084		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127703084C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1835C>T	3.37:g.127703084C>T	ENSP00000385957:p.Pro612Leu					KBTBD12_uc003ejy.3_Missense_Mutation_p.P219L|KBTBD12_uc010hsq.2_RNA|KBTBD12_uc003eka.3_Missense_Mutation_p.P187L	p.P612L	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			5	1838	+			612					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1835C>T	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	35	5.553637	0.96501	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;D	0.84589	-0.99;-0.91;-0.99;-1.87	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000017	D	0.85957	0.5818	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87038	0.2139	10	0.42905	T	0.14	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	612;187	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	L	612;219;612;187	ENSP00000385957:P612L;ENSP00000385830:P219L;ENSP00000385879:P612L;ENSP00000345478:P187L	ENSP00000345478:P187L	P	+	2	0	KBTBD12	129185774	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	7.461000	0.80834	2.894000	0.99253	0.591000	0.81541	CCG		0.537	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		21	32	0	0	0	0	21	32				
TRPC1	7220	broad.mit.edu	37	3	142511763	142511763	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:142511763G>A	ENST00000476941.1	+	9	2021	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	TRPC1_ENST00000273482.6_Missense_Mutation_p.R478H	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	512					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGTTATCTTCGTCTCTTTTTT	0.338																																						uc003evc.2		NA																	0				ovary(2)	2						c.(1534-1536)CGT>CAT		transient receptor potential cation channel,							141.0	126.0	131.0					3																	142511763		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142511763G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1535G>A	3.37:g.142511763G>A	ENSP00000419313:p.Arg512His					TRPC1_uc003evb.2_Missense_Mutation_p.R478H|TRPC1_uc011bni.1_Intron	p.R512H	NM_003304	NP_003295	P48995	TRPC1_HUMAN			9	1671	+			512			Extracellular (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1535G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306857	0.95629	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.99591	-6.24;-6.24	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98113	1.0421	10	0.87932	D	0	-5.7017	19.2782	0.94040	0.0:0.0:1.0:0.0	.	512;478	P48995;P48995-2	TRPC1_HUMAN;.	H	512;478	ENSP00000419313:R512H;ENSP00000273482:R478H	ENSP00000273482:R478H	R	+	2	0	TRPC1	143994453	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.813000	0.99286	2.622000	0.88805	0.557000	0.71058	CGT		0.338	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		12	35	0	0	0	0	12	35				
GPR160	26996	broad.mit.edu	37	3	169801877	169801877	+	Silent	SNP	T	T	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:169801877T>C	ENST00000355897.5	+	4	725	c.117T>C	c.(115-117)aaT>aaC	p.N39N		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TATTATTAAATATCCTTACAC	0.328																																						uc003fgi.2		NA																	0					0						c.(115-117)AAT>AAC		G protein-coupled receptor 160							61.0	64.0	63.0					3																	169801877		2202	4296	6498	SO:0001819	synonymous_variant	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169801877T>C	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.117T>C	3.37:g.169801877T>C						GPR160_uc010hwq.2_Silent_p.N39N	p.N39N	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	707	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		39			Helical; Name=1; (Potential).		D3DNQ2	Silent	SNP	ENST00000355897.5	37	c.117T>C	CCDS3211.1																																																																																				0.328	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		19	34	0	0	0	0	19	34				
HTR3D	200909	broad.mit.edu	37	3	183756386	183756386	+	Missense_Mutation	SNP	C	C	T	rs370663074		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:183756386C>T	ENST00000382489.3	+	7	1109	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	HTR3D_ENST00000428798.2_Missense_Mutation_p.P320L|HTR3D_ENST00000453435.1_Missense_Mutation_p.P149L|HTR3D_ENST00000334128.2_Missense_Mutation_p.P195L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	370					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	AATAAGGGCCCGGGTCTCACC	0.652																																						uc011bqv.1		NA																	0					0						c.(1108-1110)CCG>CTG		5-hydroxytryptamine receptor 3 subunit D isoform		C	LEU/PRO,LEU/PRO,LEU/PRO	0,4404		0,0,2202	26.0	31.0	29.0		959,1109,584	-0.4	0.0	3		29	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	98,98,98	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	320/405,370/455,195/280	183756386	2,13002	2202	4300	6502	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756386C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1109C>T	3.37:g.183756386C>T	ENSP00000371929:p.Pro370Leu					HTR3D_uc003fmj.2_Missense_Mutation_p.P195L|HTR3D_uc011bqu.1_Missense_Mutation_p.P320L|HTR3D_uc010hxp.2_Missense_Mutation_p.P149L	p.P370L	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1109	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		370			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1109C>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	4.277	0.050601	0.08243	0.0	2.33E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	3.77	-0.402	0.12404	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.207970	0.06167	N	0.676941	T	0.44350	0.1289	N	0.00358	-1.6	0.09310	N	1	B;B;B;B	0.13145	0.007;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.001;0.002	T	0.35748	-0.9776	10	0.28530	T	0.3	-2.5959	2.3167	0.04200	0.2755:0.2421:0.0:0.4825	.	370;195;149;195	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	L	195;320;370;149	ENSP00000334315:P195L;ENSP00000405409:P320L;ENSP00000371929:P370L;ENSP00000389268:P149L	ENSP00000334315:P195L	P	+	2	0	HTR3D	185239080	0.000000	0.05858	0.004000	0.12327	0.158000	0.22134	-0.419000	0.07071	0.058000	0.16222	-0.605000	0.04089	CCG		0.652	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		6	18	0	0	0	0	6	18				
ZFYVE28	57732	broad.mit.edu	37	4	2307028	2307028	+	Missense_Mutation	SNP	G	G	A	rs145750553		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:2307028G>A	ENST00000290974.2	-	8	1378	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317C|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277C	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	347					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGACCATGCGGCTGAGCTGC	0.657																																						uc003gex.1		NA																	0				skin(2)|ovary(1)	3						c.(1039-1041)CGC>TGC		zinc finger, FYVE domain containing 28		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	48.0	49.0	48.0		949,829,1039	5.6	1.0	4	dbSNP_134	48	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	317/858,277/818,347/888	2307028	1,13003	2203	4299	6502	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307028G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1039C>T	4.37:g.2307028G>A	ENSP00000290974:p.Arg347Cys					ZFYVE28_uc011bvk.1_Missense_Mutation_p.R277C|ZFYVE28_uc011bvl.1_Missense_Mutation_p.R317C|ZFYVE28_uc003gew.1_Missense_Mutation_p.R233C	p.R347C	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1358	-			347					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1039C>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842928	0.71488	0.0	1.16E-4	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.59772	0.25;0.24;0.24	5.56	5.56	0.83823	.	0.186707	0.53938	D	0.000046	T	0.66277	0.2773	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56700	0.804;0.714	T	0.68965	-0.5270	10	0.72032	D	0.01	.	12.2345	0.54508	0.0:0.0:0.7312:0.2688	.	317;347	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	C	347;317;277	ENSP00000290974:R347C;ENSP00000425706:R317C;ENSP00000426299:R277C	ENSP00000290974:R347C	R	-	1	0	ZFYVE28	2276826	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	4.916000	0.63362	2.634000	0.89283	0.537000	0.68136	CGC		0.657	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		9	40	0	0	0	0	9	40				
GBA3	57733	broad.mit.edu	37	4	22737769	22737769	+	RNA	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:22737769G>T	ENST00000503442.1	+	0	315				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTCATTACCGCTTCTCTCTT	0.433																																						uc003gqp.3		NA																	0					0						c.(223-225)CGC>CTC		cytosolic beta-glucosidase isoform a							158.0	161.0	160.0					4																	22737769		1912	4112	6024			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737769G>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737769G>T						GBA3_uc010iep.2_Missense_Mutation_p.R75L|GBA3_uc011bxo.1_Missense_Mutation_p.R76L	p.R75L	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			2	315	+			75					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.224G>T																																																																																					0.433	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			28	84	1	0	6.07e-21	6.91e-21	28	84				
GBA3	57733	broad.mit.edu	37	4	22820363	22820363	+	RNA	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:22820363C>G	ENST00000503442.1	+	0	397				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGATAAAGTCAATCTTCAAG	0.393																																						uc003gqp.3		NA																	0					0						c.(1225-1227)GTC>GTG		cytosolic beta-glucosidase isoform a							65.0	58.0	60.0					4																	22820363		1842	4088	5930			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22820363C>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22820363C>G						GBA3_uc010iep.2_Silent_p.V102V|GBA3_uc011bxo.1_Silent_p.V410V	p.V409V	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			5	1318	+			409					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Silent	SNP	ENST00000503442.1	37	c.1227C>G																																																																																					0.393	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			7	12	0	0	0	0	7	12				
PGM2	55276	broad.mit.edu	37	4	37848660	37848660	+	Silent	SNP	G	G	A	rs146573335	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:37848660G>A	ENST00000381967.4	+	9	1216	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	PGM2_ENST00000537241.1_Silent_p.T212T|PGM2_ENST00000544359.1_Silent_p.T233T	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	372					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCAAAGACACGTACATGTTGT	0.498													G|||	21	0.00419329	0.0	0.0	5008	,	,		18783	0.0188		0.0	False		,,,				2504	0.002					uc011byb.1		NA																	0				ovary(1)	1						c.(1114-1116)ACG>ACA		phosphoglucomutase 2							132.0	135.0	134.0					4																	37848660		2203	4300	6503	SO:0001819	synonymous_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848660G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1116G>A	4.37:g.37848660G>A						PGM2_uc011bya.1_Silent_p.T233T|PGM2_uc011byc.1_Silent_p.T212T	p.T372T	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			9	1189	+			372					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	c.1116G>A	CCDS3443.1																																																																																				0.498	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		37	104	0	0	0	0	37	104				
C4orf33	132321	broad.mit.edu	37	4	130030466	130030466	+	Missense_Mutation	SNP	G	G	A	rs547277644		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:130030466G>A	ENST00000281146.5	+	4	968	c.247G>A	c.(247-249)Gga>Aga	p.G83R	C4orf33_ENST00000502887.1_Missense_Mutation_p.G83R|C4orf33_ENST00000425929.1_Missense_Mutation_p.G83R	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	83										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TGACAGCCACGGACAGCATTT	0.328													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21062	0.0		0.0	False		,,,				2504	0.0					uc003igu.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(247-249)GGA>AGA		hypothetical protein LOC132321							114.0	127.0	123.0					4																	130030466		2203	4300	6503	SO:0001583	missense	132321							g.chr4:130030466G>A	AK091022	CCDS3741.1	4q28.2	2008-02-05			ENSG00000151470	ENSG00000151470			27025	protein-coding gene	gene with protein product						12477932	Standard	NM_001099783		Approved	FLJ33703	uc010iod.3	Q8N1A6	OTTHUMG00000133347	ENST00000281146.5:c.247G>A	4.37:g.130030466G>A	ENSP00000281146:p.Gly83Arg					C4orf33_uc010ioc.1_Missense_Mutation_p.G83R|C4orf33_uc010iod.2_Missense_Mutation_p.G83R	p.G83R	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN			4	611	+			83					D3DNY2|Q6PJF3|Q8NBC5	Missense_Mutation	SNP	ENST00000281146.5	37	c.247G>A	CCDS3741.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562418	0.86335	.	.	ENSG00000151470	ENST00000281146;ENST00000502887;ENST00000425929	T;T;T	0.37235	1.21;1.21;1.21	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.953	T	0.65389	-0.6180	10	0.49607	T	0.09	-35.7607	12.3455	0.55118	0.0779:0.0:0.9221:0.0	.	83;83	D6RIT3;Q8N1A6	.;CD033_HUMAN	R	83	ENSP00000281146:G83R;ENSP00000427406:G83R;ENSP00000401090:G83R	ENSP00000281146:G83R	G	+	1	0	C4orf33	130249916	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.481000	0.73608	2.778000	0.95560	0.655000	0.94253	GGA		0.328	C4orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257177.2	NM_173487		27	87	0	0	0	0	27	87				
CTNND2	1501	broad.mit.edu	37	5	11346651	11346651	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:11346651C>G	ENST00000304623.8	-	9	1650	c.1461G>C	c.(1459-1461)caG>caC	p.Q487H	CTNND2_ENST00000511377.1_Missense_Mutation_p.Q396H|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q487H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q54H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q150H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	487					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCTGGCCCTCTGGAAGGTGG	0.642																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1459-1461)CAG>CAC		catenin (cadherin-associated protein), delta 2							53.0	57.0	56.0					5																	11346651		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346651C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1461G>C	5.37:g.11346651C>G	ENSP00000307134:p.Gln487His					CTNND2_uc010itt.2_Missense_Mutation_p.Q396H|CTNND2_uc011cmy.1_Missense_Mutation_p.Q150H|CTNND2_uc011cmz.1_Missense_Mutation_p.Q54H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.Q54H	p.Q487H	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1606	-			487					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1461G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840436	0.51057	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79352	-1.15;-1.23;-1.15;-1.26;-1.22	5.8	5.8	0.92144	.	0.381401	0.25058	N	0.033465	T	0.74718	0.3753	L	0.42245	1.32	0.29347	N	0.865634	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.0;0.0;0.003	T	0.68413	-0.5415	10	0.66056	D	0.02	-10.507	20.1139	0.97919	0.0:1.0:0.0:0.0	.	150;54;487	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	487;487;396;54;150	ENSP00000307134:Q487H;ENSP00000352661:Q487H;ENSP00000426510:Q396H;ENSP00000391155:Q54H;ENSP00000426887:Q150H	ENSP00000307134:Q487H	Q	-	3	2	CTNND2	11399651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.406000	0.44557	2.763000	0.94921	0.585000	0.79938	CAG		0.642	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		19	103	0	0	0	0	19	103				
BRIX1	55299	broad.mit.edu	37	5	34924964	34924964	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:34924964G>A	ENST00000336767.5	+	9	1039	c.676G>A	c.(676-678)Gat>Aat	p.D226N	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	226	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CATAGAAGAAGATGCTGCTCT	0.338																																						uc003jja.2		NA																	0					0						c.(676-678)GAT>AAT		BRIX							96.0	97.0	97.0					5																	34924964		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34924964G>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.676G>A	5.37:g.34924964G>A	ENSP00000338862:p.Asp226Asn						p.D226N	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN			9	700	+			226			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.676G>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561187	0.65538	.	.	ENSG00000113460	ENST00000336767	T	0.20598	2.06	5.6	5.6	0.85130	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.35341	1.055	0.80722	D	1	B	0.29766	0.256	B	0.33960	0.173	T	0.02444	-1.1158	10	0.44086	T	0.13	-20.9792	19.5989	0.95551	0.0:0.0:1.0:0.0	.	226	Q8TDN6	BRX1_HUMAN	N	226	ENSP00000338862:D226N	ENSP00000338862:D226N	D	+	1	0	BRIX1	34960721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.406000	0.80017	2.634000	0.89283	0.655000	0.94253	GAT		0.338	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		9	68	0	0	0	0	9	68				
RASA1	5921	broad.mit.edu	37	5	86675667	86675668	+	Splice_Site	DNP	CG	CG	TT	rs138785106		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:86675667_86675668CG>TT	ENST00000274376.6	+	19	3167	c.2603_2603CG>TT	c.(2602-2604)cCGg>cTTgg	p.P868L	RASA1_ENST00000456692.2_Splice_Site_p.P691L|RASA1_ENST00000506290.1_Splice_Site_p.P702L|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Splice_Site_p.P701L	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	868	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATACTTCCACCGTAAGTGGTGA	0.302																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5	GRCh37	CS083252	RASA1	S		c.e19+1		RAS p21 protein activator 1 isoform 1																																				SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86675667_86675668CG>TT		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	Exception_encountered	5.37:g.86675667_86675668delinsTT						RASA1_uc010jav.2_Splice_Site|RASA1_uc003kix.2_Splice_Site_p.P691_splice|RASA1_uc011ctv.1_Splice_Site_p.P701_splice|RASA1_uc011ctw.1_Splice_Site_p.P702_splice|RASA1_uc010jaw.2_Splice_Site_p.P690_splice	p.P868_splice	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	19	2721	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)						B2R6W3|Q9UDI1	Splice_Site	DNP	ENST00000274376.6	37	c.2603_splice	CCDS34200.1																																																																																				0.302	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Missense_Mutation	19	27	0	0	0	0	19	27				
SNX24	28966	broad.mit.edu	37	5	122337107	122337107	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:122337107G>C	ENST00000261369.4	+	5	537	c.352G>C	c.(352-354)Gat>Cat	p.D118H	SNX24_ENST00000513881.1_Missense_Mutation_p.D118H|SNX24_ENST00000395451.4_Missense_Mutation_p.D151H|SNX24_ENST00000506996.1_Missense_Mutation_p.D118H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	118	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TAGATCTTTTGATGAAACAGA	0.318																																						uc011cwo.1		NA																	0					0						c.(352-354)GAT>CAT		SBBI31 protein							81.0	84.0	83.0					5																	122337107		2203	4299	6502	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122337107G>C	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.352G>C	5.37:g.122337107G>C	ENSP00000261369:p.Asp118His					SNX24_uc003ktf.2_Missense_Mutation_p.D118H|SNX24_uc010jcy.2_Missense_Mutation_p.D118H	p.D118H	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	5	521	+		Prostate(80;0.0387)	118			PX.		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.352G>C	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872623	0.72180	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T	0.66280	-0.2;-0.15;-0.15	5.87	5.87	0.94306	Phox homologous domain (1);	0.237159	0.48767	D	0.000163	T	0.49795	0.1578	N	0.02011	-0.69	0.58432	D	0.999994	P;P	0.45348	0.856;0.801	P;P	0.51016	0.455;0.656	T	0.60556	-0.7240	10	0.38643	T	0.18	-16.2825	18.7629	0.91860	0.0:0.0:1.0:0.0	.	118;118	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	H	118;118;151;118	ENSP00000261369:D118H;ENSP00000424149:D118H;ENSP00000422535:D118H	ENSP00000261369:D118H	D	+	1	0	SNX24	122365006	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.269000	0.72558	2.941000	0.99782	0.655000	0.94253	GAT		0.318	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		3	15	0	0	0	0	3	15				
PCDHA7	56141	broad.mit.edu	37	5	140216300	140216300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:140216300C>T	ENST00000525929.1	+	1	2332	c.2332C>T	c.(2332-2334)Cag>Tag	p.Q778*	PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.Q778*|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	778	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTTCCTCAGGGTCCATC	0.478																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(2332-2334)CAG>TAG		protocadherin alpha 7 isoform 1 precursor							46.0	47.0	46.0					5																	140216300		2203	4300	6503	SO:0001587	stop_gained	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140216300C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2332C>T	5.37:g.140216300C>T	ENSP00000436426:p.Gln778*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Nonsense_Mutation_p.Q778*	p.Q778*	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2332	+			778			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75282	Nonsense_Mutation	SNP	ENST00000525929.1	37	c.2332C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078174	0.94000	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	.	.	.	3.61	3.61	0.41365	.	0.672301	0.10863	U	0.625895	.	.	.	.	.	.	0.44359	D	0.997256	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	14.3522	0.66711	0.0:1.0:0.0:0.0	.	.	.	.	X	778	.	ENSP00000367365:Q778X	Q	+	1	0	PCDHA7	140196484	0.000000	0.05858	0.198000	0.23420	0.747000	0.42532	0.577000	0.23758	1.992000	0.58205	0.462000	0.41574	CAG		0.478	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		20	11	0	0	0	0	20	11				
PCDHGA11	56105	broad.mit.edu	37	5	140801398	140801398	+	Missense_Mutation	SNP	G	G	A	rs201283981		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:140801398G>A	ENST00000398587.2	+	1	637	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D202N|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGCCTGGACCGAGAGAA	0.562																																						uc003lkq.1		NA																	0					0						c.(604-606)GAC>AAC		protocadherin gamma subfamily A, 11 isoform 1							45.0	49.0	48.0					5																	140801398		2020	4188	6208	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801398G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.604G>A	5.37:g.140801398G>A	ENSP00000381589:p.Asp202Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.D202N|PCDHGA11_uc003lkp.1_Missense_Mutation_p.D202N	p.D202N	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	862	+			202			Extracellular (Potential).|Cadherin 2.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.604G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.807877	0.90623	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.34667	1.35;1.35	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.000000	0.29522	U	0.011905	T	0.73133	0.3548	H	0.94222	3.51	0.42046	D	0.991096	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79955	-0.1585	10	0.87932	D	0	.	20.1477	0.98083	0.0:0.0:1.0:0.0	.	202;202;202	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	N	202	ENSP00000381589:D202N;ENSP00000428333:D202N	ENSP00000381589:D202N	D	+	1	0	PCDHGA11	140781582	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.768000	0.98965	2.857000	0.98124	0.650000	0.86243	GAC		0.562	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		12	30	0	0	0	0	12	30				
GPLD1	2822	broad.mit.edu	37	6	24437398	24437398	+	Missense_Mutation	SNP	G	G	A	rs553287827		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:24437398G>A	ENST00000230036.1	-	21	2250	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	714					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CGGGAGAAGCGGCGGTCTCCG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20377	0.001		0.0	False		,,,				2504	0.0					uc003ned.1		NA																	0				ovary(2)|kidney(1)	3						c.(2140-2142)CGC>TGC		glycosylphosphatidylinositol specific							110.0	97.0	101.0					6																	24437398		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24437398G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2140C>T	6.37:g.24437398G>A	ENSP00000230036:p.Arg714Cys						p.R714C	NM_001503	NP_001494	P80108	PHLD_HUMAN			21	2251	-			714			FG-GAP 6.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.2140C>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832391	0.71258	.	.	ENSG00000112293	ENST00000230036	T	0.71698	-0.59	4.69	4.69	0.59074	.	0.186618	0.36703	N	0.002444	T	0.76884	0.4050	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.66084	0.941	T	0.79014	-0.1976	10	0.62326	D	0.03	-23.8023	10.6954	0.45896	0.0:0.0:0.7621:0.2379	.	714	P80108	PHLD_HUMAN	C	714	ENSP00000230036:R714C	ENSP00000230036:R714C	R	-	1	0	GPLD1	24545377	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.734000	0.47368	2.590000	0.87494	0.563000	0.77884	CGC		0.552	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		15	43	0	0	0	0	15	43				
DNAH8	1769	broad.mit.edu	37	6	38825334	38825334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:38825334C>G	ENST00000359357.3	+	40	5377	c.5123C>G	c.(5122-5124)tCa>tGa	p.S1708*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S1925*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S1708*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1708					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACACGATTCAGAAGAGGCT	0.348																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5122-5124)TCA>TGA		dynein, axonemal, heavy polypeptide 8							99.0	98.0	98.0					6																	38825334		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38825334C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5123C>G	6.37:g.38825334C>G	ENSP00000352312:p.Ser1708*						p.S1708*	NM_001371	NP_001362					40	5723	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.5123C>G		.	.	.	.	.	.	.	.	.	.	C	47	13.693239	0.99757	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.91	5.91	0.95273	.	0.213831	0.38005	N	0.001844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.21	0.86928	0.0:0.8745:0.1255:0.0	.	.	.	.	X	1913;1913;1708;1708	.	ENSP00000333363:S1913X	S	+	2	0	DNAH8	38933312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.884000	0.69729	2.793000	0.96121	0.655000	0.94253	TCA		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		14	41	0	0	0	0	14	41				
CUL9	23113	broad.mit.edu	37	6	43152214	43152214	+	Missense_Mutation	SNP	G	G	A	rs543821565		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:43152214G>A	ENST00000252050.4	+	2	250	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	CUL9_ENST00000372647.2_Missense_Mutation_p.E56K|CUL9_ENST00000354495.3_Missense_Mutation_p.E56K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	56					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGTGGGTGTGGAAGAAGGCAA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20941	0.0		0.001	False		,,,				2504	0.0					uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(166-168)GAA>AAA		p53-associated parkin-like cytoplasmic protein							149.0	139.0	142.0					6																	43152214		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152214G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.166G>A	6.37:g.43152214G>A	ENSP00000252050:p.Glu56Lys					CUL9_uc003ouj.1_Missense_Mutation_p.E56K|CUL9_uc003oul.2_Missense_Mutation_p.E56K|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.E56K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			2	241	+			56					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.166G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243663	0.22796	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72725	-0.68;-0.68;-0.58	3.88	3.01	0.34805	.	0.529394	0.17937	N	0.156961	T	0.33381	0.0861	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.21905	0.037;0.037;0.062	B;B;B	0.18263	0.01;0.01;0.021	T	0.28776	-1.0033	10	0.45353	T	0.12	-1.0174	11.6946	0.51536	0.0876:0.0:0.9124:0.0	.	56;56;56	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	K	56	ENSP00000252050:E56K;ENSP00000346490:E56K;ENSP00000361730:E56K	ENSP00000252050:E56K	E	+	1	0	CUL9	43260192	0.787000	0.28750	0.023000	0.16930	0.289000	0.27227	2.048000	0.41278	0.971000	0.38288	0.467000	0.42956	GAA		0.562	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		18	37	0	0	0	0	18	37				
POPDC3	64208	broad.mit.edu	37	6	105606599	105606599	+	Nonsense_Mutation	SNP	G	G	A	rs375494032		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:105606599G>A	ENST00000254765.3	-	4	900	c.622C>T	c.(622-624)Cga>Tga	p.R208*	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	208					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GACACATATCGACAATCAGTT	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17345	0.0		0.0	False		,,,				2504	0.0					uc003prb.2		NA																	0				skin(3)|ovary(2)	5						c.(622-624)CGA>TGA		popeye protein 3		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	175.0	185.0	182.0		622	5.0	0.9	6		182	0,8600		0,0,4300	no	stop-gained	POPDC3	NM_022361.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		208/292	105606599	1,13005	2203	4300	6503	SO:0001587	stop_gained	64208					integral to membrane		g.chr6:105606599G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.622C>T	6.37:g.105606599G>A	ENSP00000254765:p.Arg208*					uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	p.R208*	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			4	1024	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	208					B2RA98|Q5T3Y8|Q8TBW6	Nonsense_Mutation	SNP	ENST00000254765.3	37	c.622C>T	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	G	37	6.173120	0.97348	2.27E-4	0.0	ENSG00000132429	ENST00000254765;ENST00000429112	.	.	.	5.86	4.99	0.66335	.	0.068006	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4631	16.425	0.83812	0.0:0.0:0.8674:0.1326	.	.	.	.	X	208;54	.	ENSP00000254765:R208X	R	-	1	2	POPDC3	105713292	1.000000	0.71417	0.886000	0.34754	0.969000	0.65631	4.367000	0.59498	1.459000	0.47892	0.650000	0.86243	CGA		0.413	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		20	103	0	0	0	0	20	103				
PDSS2	57107	broad.mit.edu	37	6	107780282	107780282	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:107780282G>C	ENST00000369037.4	-	1	485	c.208C>G	c.(208-210)Cgc>Ggc	p.R70G	PDSS2_ENST00000369031.4_Missense_Mutation_p.R70G|PDSS2_ENST00000453874.2_Missense_Mutation_p.R70G	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	70					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCAGGCAGCGAAGGCTCATG	0.622											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003prt.2		NA																	0				ovary(2)	2						c.(208-210)CGC>GGC		prenyl diphosphate synthase, subunit 2							56.0	56.0	56.0					6																	107780282		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107780282G>C	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.208C>G	6.37:g.107780282G>C	ENSP00000358033:p.Arg70Gly		OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Missense_Mutation_p.R70G|PDSS2_uc003pru.2_Missense_Mutation_p.R70G|PDSS2_uc003prv.2_Missense_Mutation_p.R70G	p.R70G	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	1	498	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	70					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.208C>G	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338852	0.95783	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.63913	-0.07;-0.07;-0.07	5.14	5.14	0.70334	Terpenoid synthase (2);	0.053155	0.85682	D	0.000000	T	0.74891	0.3776	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;0.969;1.0;1.0	D;P;D;D	0.91635	0.997;0.771;0.999;0.998	T	0.74441	-0.3664	10	0.54805	T	0.06	.	19.1568	0.93514	0.0:0.0:1.0:0.0	.	70;70;70;70	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	G	70	ENSP00000358033:R70G;ENSP00000399691:R70G;ENSP00000358027:R70G	ENSP00000358027:R70G	R	-	1	0	PDSS2	107886975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.895000	0.92512	2.832000	0.97577	0.655000	0.94253	CGC		0.622	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		12	36	0	0	0	0	12	36				
LACE1	246269	broad.mit.edu	37	6	108723212	108723212	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:108723212A>G	ENST00000368977.4	+	7	947	c.761A>G	c.(760-762)aAt>aGt	p.N254S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	254						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CTCTATAAAAATGGACTCCAA	0.284																																						uc003psj.2		NA																	0				central_nervous_system(1)	1						c.(760-762)AAT>AGT		lactation elevated 1							37.0	37.0	37.0					6																	108723212		2200	4292	6492	SO:0001583	missense	246269						ATP binding	g.chr6:108723212A>G	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.761A>G	6.37:g.108723212A>G	ENSP00000357973:p.Asn254Ser						p.N254S	NM_145315	NP_660358	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	7	947	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	254					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.761A>G	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.45|19.45	3.829249|3.829249	0.71258|0.71258	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.095576	.|0.64402	.|D	.|0.000001	T|T	0.77678|0.77678	0.4166|0.4166	M|M	0.89163|0.89163	3.01|3.01	0.54753|0.54753	D|D	0.999989|0.999989	.|D	.|0.76494	.|0.999	.|D	.|0.75484	.|0.986	T|T	0.82746|0.82746	-0.0305|-0.0305	5|9	.|0.72032	.|D	.|0.01	-11.8192|-11.8192	13.6497|13.6497	0.62304|0.62304	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|254	.|Q8WV93	.|LACE1_HUMAN	V|S	122|254	.|.	.|ENSP00000357973:N254S	M|N	+|+	1|2	0|0	LACE1|LACE1	108829905|108829905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.472000|7.472000	0.80996|0.80996	2.018000|2.018000	0.59344|0.59344	0.472000|0.472000	0.43445|0.43445	ATG|AAT		0.284	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		3	11	0	0	0	0	3	11				
LAMA2	3908	broad.mit.edu	37	6	129714240	129714240	+	Missense_Mutation	SNP	G	G	C	rs138296015		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:129714240G>C	ENST00000421865.2	+	37	5334	c.5285G>C	c.(5284-5286)cGg>cCg	p.R1762P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1762	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAGAGTCCCGGGGGGAAAAT	0.468																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(5284-5286)CGG>CCG		laminin alpha 2 subunit isoform a precursor							56.0	63.0	61.0					6																	129714240		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129714240G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5285G>C	6.37:g.129714240G>C	ENSP00000400365:p.Arg1762Pro					LAMA2_uc003qbo.2_Missense_Mutation_p.R1762P	p.R1762P	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	37	5390	+			1762			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5285G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415555	0.42817	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10477	2.87	5.52	5.52	0.82312	Laminin I (1);	0.131162	0.52532	D	0.000074	T	0.09024	0.0223	L	0.29908	0.895	0.29179	N	0.876646	D;D	0.61080	0.989;0.976	P;P	0.59115	0.852;0.852	T	0.10753	-1.0616	10	0.35671	T	0.21	.	12.732	0.57203	0.0749:0.0:0.925:0.0	.	1762;1762	A6NF00;P24043	.;LAMA2_HUMAN	P	1762	ENSP00000400365:R1762P	ENSP00000346769:R1762P	R	+	2	0	LAMA2	129755933	0.977000	0.34250	0.063000	0.19743	0.263000	0.26337	3.804000	0.55568	2.590000	0.87494	0.591000	0.81541	CGG		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	47	0	0	0	0	13	47				
L3MBTL3	84456	broad.mit.edu	37	6	130425615	130425615	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:130425615G>A	ENST00000529410.1	+	21	2260	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R569H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R594H|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R569H|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R569H|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R594H			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	594					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATAAAGACCGTATTTTTCCA	0.383																																						uc003qbt.2		NA																	0				ovary(5)|skin(1)	6						c.(1780-1782)CGT>CAT		l(3)mbt-like 3 isoform a							102.0	104.0	104.0					6																	130425615		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130425615G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1781G>A	6.37:g.130425615G>A	ENSP00000431962:p.Arg594His					L3MBTL3_uc003qbu.2_Missense_Mutation_p.R569H	p.R594H	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	19	1951	+			594					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1781G>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864336	0.71949	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	6.02	4.24	0.50183	.	0.263316	0.44285	D	0.000473	T	0.36635	0.0974	L	0.53249	1.67	0.40017	D	0.975365	D;D	0.64830	0.994;0.99	P;P	0.54706	0.759;0.608	T	0.24621	-1.0155	10	0.45353	T	0.12	.	9.6426	0.39848	0.1608:0.0:0.8392:0.0	.	569;594	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	H	594;569;594;569;569;594	ENSP00000431962:R594H;ENSP00000437185:R569H;ENSP00000354526:R594H;ENSP00000357121:R569H;ENSP00000436706:R569H;ENSP00000357118:R594H	ENSP00000354526:R594H	R	+	2	0	L3MBTL3	130467308	0.575000	0.26692	0.982000	0.44146	0.998000	0.95712	1.757000	0.38400	1.562000	0.49601	0.655000	0.94253	CGT		0.383	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		31	61	0	0	0	0	31	61				
FAM221A	340277	broad.mit.edu	37	7	23731200	23731200	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:23731200G>C	ENST00000344962.4	+	4	711	c.622G>C	c.(622-624)Gat>Cat	p.D208H	FAM221A_ENST00000409192.3_Missense_Mutation_p.D208H|FAM221A_ENST00000409994.3_Missense_Mutation_p.D150H|FAM221A_ENST00000409653.1_Missense_Mutation_p.D150H	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	208																	CATGCGGTTAGATGACAGTGG	0.423																																						uc003swo.3		NA																	0					0						c.(622-624)GAT>CAT		hypothetical protein LOC340277 isoform 1							117.0	107.0	111.0					7																	23731200		2203	4300	6503	SO:0001583	missense	340277							g.chr7:23731200G>C		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.622G>C	7.37:g.23731200G>C	ENSP00000342576:p.Asp208His					C7orf46_uc003swq.3_Missense_Mutation_p.D208H|C7orf46_uc003swr.3_Missense_Mutation_p.D150H|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	p.D208H	NM_199136	NP_954587	A4D161	CG046_HUMAN			4	711	+			208					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.622G>C	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508445	0.85282	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.71	5.71	0.89125	.	0.151195	0.64402	D	0.000015	T	0.63593	0.2524	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.66360	-0.5943	10	0.87932	D	0	-21.1426	18.0383	0.89312	0.0:0.0:1.0:0.0	.	150;208;208	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	H	208;208;150;150	ENSP00000386927:D208H;ENSP00000342576:D208H;ENSP00000386900:D150H;ENSP00000386631:D150H	ENSP00000342576:D208H	D	+	1	0	C7orf46	23697725	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	8.923000	0.92808	2.700000	0.92200	0.467000	0.42956	GAT		0.423	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		23	52	0	0	0	0	23	52				
EGFR	1956	broad.mit.edu	37	7	55233012	55233012	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:55233012G>A	ENST00000275493.2	+	15	1939	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	EGFR_ENST00000454757.2_Missense_Mutation_p.G535S|EGFR_ENST00000344576.2_Missense_Mutation_p.G588S|EGFR_ENST00000455089.1_Missense_Mutation_p.G543S|EGFR_ENST00000342916.3_Missense_Mutation_p.G588S|EGFR_ENST00000442591.1_Missense_Mutation_p.G588S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	588					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTACATTGACGGCCCCCACTG	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1762-1764)GGC>AGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						91.0	78.0	83.0					7																	55233012		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233012G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1762G>A	7.37:g.55233012G>A	ENSP00000275493:p.Gly588Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G588S|EGFR_uc003tqj.2_Missense_Mutation_p.G588S|EGFR_uc010kzg.1_Missense_Mutation_p.G543S|EGFR_uc011kco.1_Missense_Mutation_p.G535S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G588S	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2008	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		588	DGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.		Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1762G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549731	0.96501	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.62209	1.925	0.80722	D	1	D;D;D;D	0.89917	0.995;0.993;1.0;0.988	P;P;D;P	0.87578	0.729;0.707;0.998;0.826	T	0.50906	-0.8772	10	0.52906	T	0.07	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	543;588;588;588	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	543;588;458;588;588;588;535;382	ENSP00000415559:G543S;ENSP00000342376:G588S;ENSP00000345973:G588S;ENSP00000275493:G588S;ENSP00000410031:G588S;ENSP00000395243:G535S	ENSP00000275493:G588S	G	+	1	0	EGFR	55200506	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	9.765000	0.98953	2.785000	0.95823	0.655000	0.94253	GGC		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		23	43	0	0	0	0	23	43				
ZAN	7455	broad.mit.edu	37	7	100391590	100391590	+	RNA	SNP	G	G	A	rs143981169	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:100391590G>A	ENST00000348028.3	+	0	8016				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGCACCCAGAGCCTCCCCT	0.672																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7936-7938)GAG>AAG		zonadhesin isoform 3							28.0	32.0	31.0					7																	100391590		2065	4204	6269			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391590G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391590G>A						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kke.1_Intron	p.E2646K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		44	8101	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2646			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.7936G>A																																																																																					0.672	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	17	0	0	0	0	5	17				
MUC17	140453	broad.mit.edu	37	7	100686824	100686824	+	Missense_Mutation	SNP	C	C	T	rs371363140		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:100686824C>T	ENST00000306151.4	+	3	12191	c.12127C>T	c.(12127-12129)Cgt>Tgt	p.R4043C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4043					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTCACCACCCGTCCTGTGAC	0.537																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12127-12129)CGT>TGT		mucin 17 precursor			CYS/ARG	0,4406		0,0,2203	326.0	278.0	294.0		12127	0.4	0.0	7		294	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4043/4494	100686824	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686824C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12127C>T	7.37:g.100686824C>T	ENSP00000302716:p.Arg4043Cys					MUC17_uc010lho.1_RNA	p.R4043C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	12180	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4043			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12127C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.541	-0.541735	0.04053	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.01887	4.58	1.69	0.408	0.16377	.	.	.	.	.	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	P	0.41784	0.762	B	0.23419	0.046	T	0.50634	-0.8805	9	0.54805	T	0.06	.	4.5735	0.12221	0.6248:0.3752:0.0:0.0	.	4043	Q685J3	MUC17_HUMAN	C	4043	ENSP00000302716:R4043C	ENSP00000302716:R4043C	R	+	1	0	MUC17	100473544	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.929000	0.03976	-0.032000	0.13758	-0.529000	0.04317	CGT		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		40	106	0	0	0	0	40	106				
CUX1	1523	broad.mit.edu	37	7	101840038	101840038	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:101840038C>T	ENST00000292535.7	+	15	1385	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000550008.2_Silent_p.H449H|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000360264.3_Silent_p.H460H|CUX1_ENST00000549414.2_Silent_p.H449H	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	449					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGGTACACACCAGTTCTCAC	0.572																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1345-1347)CAC>CAT		cut-like homeobox 1 isoform a							64.0	72.0	69.0					7																	101840038		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840038C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1347C>T	7.37:g.101840038C>T						CUX1_uc003uys.3_Silent_p.H460H|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.H449H	NM_181552	NP_853530	P39880	CUX1_HUMAN			15	1385	+			449					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.1347C>T	CCDS5721.1																																																																																				0.572	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		30	73	0	0	0	0	30	73				
KCND2	3751	broad.mit.edu	37	7	119915562	119915562	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:119915562C>T	ENST00000331113.4	+	1	1841	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	292					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTGTCACACTCCGAGTCTTCC	0.527																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(874-876)CTC>CTT		potassium voltage-gated channel, Shal-related							119.0	100.0	107.0					7																	119915562		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915562C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.876C>T	7.37:g.119915562C>T							p.L292L	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1841	+	all_neural(327;0.117)		292			Helical; Voltage-sensor; Name=Segment S4; (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.876C>T	CCDS5776.1																																																																																				0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		12	23	0	0	0	0	12	23				
PAX4	5078	broad.mit.edu	37	7	127255554	127255554	+	Silent	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:127255554G>C	ENST00000341640.2	-	1	226	c.21C>G	c.(19-21)ctC>ctG	p.L7L	PAX4_ENST00000378740.2_Silent_p.L7L|PAX4_ENST00000338516.3_Silent_p.L15L|PAX4_ENST00000463946.1_5'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	15	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATTCACAAAGAGCCCCCCAA	0.617																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(19-21)CTC>CTG		paired box 4							76.0	79.0	78.0					7																	127255554		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255554G>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.21C>G	7.37:g.127255554G>C						PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Silent_p.L7L|PAX4_uc003vmh.2_5'UTR	p.L7L	NM_006193	NP_006184	O43316	PAX4_HUMAN			1	227	-			15			Paired.		O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.21C>G	CCDS5797.1																																																																																				0.617	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			15	81	0	0	0	0	15	81				
SSBP1	6742	broad.mit.edu	37	7	141445354	141445354	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:141445354G>T	ENST00000481508.1	+	6	808	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	SSBP1_ENST00000265304.6_Missense_Mutation_p.V125L|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.V125L|SSBP1_ENST00000498107.1_Missense_Mutation_p.V125L|SSBP1_ENST00000465582.1_Missense_Mutation_p.V125L	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	125	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TAAAAATAATGTGAGGCGACA	0.313																																						uc003vwo.1		NA																	0				ovary(1)	1						c.(373-375)GTG>TTG		single-stranded DNA binding protein 1 precursor							117.0	129.0	125.0					7																	141445354		2203	4300	6503	SO:0001583	missense	6742				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding	g.chr7:141445354G>T	M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.373G>T	7.37:g.141445354G>T	ENSP00000419665:p.Val125Leu					SSBP1_uc011kri.1_Missense_Mutation_p.V125L|SSBP1_uc010lnp.1_Missense_Mutation_p.V125L	p.V125L	NM_003143	NP_003134	Q04837	SSBP_HUMAN			6	451	+	Melanoma(164;0.0171)		125			SSB.			Missense_Mutation	SNP	ENST00000481508.1	37	c.373G>T	CCDS5866.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103869	0.56291	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000484178;ENST00000481508	.	.	.	5.47	4.58	0.56647	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.65975	2.015	0.80722	D	1	P;P	0.49358	0.923;0.51	P;B	0.45195	0.473;0.092	T	0.58463	-0.7632	9	0.27785	T	0.31	-6.1449	14.6303	0.68650	0.071:0.0:0.929:0.0	.	125;125	B7Z268;Q04837	.;SSBP_HUMAN	L	125	.	ENSP00000265304:V125L	V	+	1	0	SSBP1	141091823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.755000	0.74914	2.571000	0.86741	0.655000	0.94253	GTG		0.313	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349187.1	NM_003143		15	40	1	0	4.75e-09	5.26e-09	15	40				
KRBA1	84626	broad.mit.edu	37	7	149430329	149430329	+	Silent	SNP	G	G	A	rs376041143		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:149430329G>A	ENST00000485033.2	+	15	2103	c.2103G>A	c.(2101-2103)ccG>ccA	p.P701P	KRBA1_ENST00000319551.8_Silent_p.P701P|KRBA1_ENST00000255992.10_Silent_p.P761P|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	762	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGGGCCCGCCTGAGCTGC	0.647																																						uc003wfz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2284-2286)CCG>CCA		KRAB A domain containing 1		G		0,3834		0,0,1917	70.0	79.0	77.0		2285	-5.8	0.0	7		77	1,8193		0,1,4096	no	coding-synonymous	KRBA1	NM_032534.2		0,1,6013	AA,AG,GG		0.0122,0.0,0.0083		762/1031	149430329	1,12027	1917	4097	6014	SO:0001819	synonymous_variant	84626							g.chr7:149430329G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2103G>A	7.37:g.149430329G>A						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.P369P	p.P762P	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	2685	+	Melanoma(164;0.165)|Ovarian(565;0.177)		762			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.2286G>A																																																																																					0.647	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		39	114	0	0	0	0	39	114				
CA8	767	broad.mit.edu	37	8	61178601	61178601	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:61178601C>T	ENST00000317995.4	-	3	564	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	100			S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation). {ECO:0000269|PubMed:19461874}.		one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	ATGGTCCTCCCGAAAGAACTG	0.388																																						uc003xtz.1		NA																	0					0						c.(298-300)TCG>TCA		carbonic anhydrase VIII							60.0	58.0	58.0					8																	61178601		2203	4300	6503	SO:0001819	synonymous_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178601C>T	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.300G>A	8.37:g.61178601C>T						CA8_uc003xua.1_Silent_p.S100S|CA8_uc003xub.2_Silent_p.S100S	p.S100S	NM_004056	NP_004047	P35219	CAH8_HUMAN			3	548	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	100		S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation).			A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	c.300G>A	CCDS6174.1																																																																																				0.388	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			11	30	0	0	0	0	11	30				
KCNS2	3788	broad.mit.edu	37	8	99440583	99440583	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:99440583C>T	ENST00000287042.4	+	2	726	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R126C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	126					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTACCATGGCCGCAAAGTAGA	0.552																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	0				ovary(1)	1						c.(376-378)CGC>TGC		potassium voltage-gated channel,							85.0	91.0	89.0					8																	99440583		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440583C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.376C>T	8.37:g.99440583C>T	ENSP00000287042:p.Arg126Cys						p.R126C	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	726	+	Breast(36;2.4e-06)		126			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.376C>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926434	0.52759	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.47528	0.84;0.84	5.31	4.35	0.52113	BTB/POZ-like (1);BTB/POZ fold (1);	0.136406	0.47093	D	0.000244	T	0.63117	0.2484	M	0.67397	2.05	0.52099	D	0.999942	D	0.89917	1.0	D	0.75020	0.985	T	0.65780	-0.6085	10	0.87932	D	0	.	10.2175	0.43177	0.3438:0.6562:0.0:0.0	.	126	Q9ULS6	KCNS2_HUMAN	C	126	ENSP00000287042:R126C;ENSP00000430712:R126C	ENSP00000287042:R126C	R	+	1	0	KCNS2	99509759	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.845000	0.48254	2.470000	0.83445	0.563000	0.77884	CGC		0.552	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		20	40	0	0	0	0	20	40				
VPS13B	157680	broad.mit.edu	37	8	100729474	100729474	+	Missense_Mutation	SNP	G	G	A	rs147099791		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:100729474G>A	ENST00000358544.2	+	37	6716	c.6605G>A	c.(6604-6606)cGc>cAc	p.R2202H	VPS13B_ENST00000357162.2_Missense_Mutation_p.R2177H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2202					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAAGAAGCCGCATTCTGATA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.0				Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6604-6606)CGC>CAC		vacuolar protein sorting 13B isoform 5		G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	84.0	84.0	84.0		6605,6530	5.3	1.0	8	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense	VPS13B	NM_017890.3,NM_152564.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	2202/4023,2177/3998	100729474	2,13004	2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100729474G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6605G>A	8.37:g.100729474G>A	ENSP00000351346:p.Arg2202His					VPS13B_uc003yiw.2_Missense_Mutation_p.R2177H	p.R2202H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		37	6716	+	Breast(36;3.73e-07)		2202					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6605G>A	CCDS6280.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.85	3.904489	0.72868	4.54E-4	0.0	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71698	-0.59;-0.59	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.80654	0.4664	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.828	T	0.81504	-0.0903	10	0.62326	D	0.03	.	14.4856	0.67614	0.073:0.0:0.927:0.0	.	2177;2202	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	2177;2202	ENSP00000349685:R2177H;ENSP00000351346:R2202H	ENSP00000349685:R2177H	R	+	2	0	VPS13B	100798650	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	4.857000	0.62939	2.590000	0.87494	0.655000	0.94253	CGC		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		28	32	0	0	0	0	28	32				
PHF20L1	51105	broad.mit.edu	37	8	133848943	133848943	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:133848943G>A	ENST00000395386.2	+	16	2367	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PHF20L1_ENST00000220847.7_Missense_Mutation_p.E77K|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E665K|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	690							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGAGATGGATGAGGAGAATGG	0.388																																						uc003ytt.2		NA																	0				ovary(2)	2						c.(2068-2070)GAG>AAG		PHD finger protein 20-like 1 isoform 1							183.0	175.0	177.0					8																	133848943		1973	4153	6126	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133848943G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2068G>A	8.37:g.133848943G>A	ENSP00000378784:p.Glu690Lys					PHF20L1_uc011lja.1_Missense_Mutation_p.E664K	p.E690K	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		16	2393	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		690			PHD-type.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2068G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	34	5.313787	0.95655	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	D;D;D	0.84660	-1.88;-1.88;-1.88	5.05	5.05	0.67936	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.270493	0.22814	U	0.055316	D	0.90157	0.6924	M	0.62088	1.915	0.58432	D	0.999993	D;D	0.59767	0.982;0.986	P;P	0.59595	0.78;0.86	D	0.91069	0.4891	10	0.72032	D	0.01	-24.7281	17.7399	0.88404	0.0:0.0:1.0:0.0	.	665;690	F8W9L8;A8MW92	.;P20L1_HUMAN	K	690;77;665	ENSP00000378784:E690K;ENSP00000220847:E77K;ENSP00000378788:E665K	ENSP00000220847:E77K	E	+	1	0	PHF20L1	133918125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.009000	0.93606	2.503000	0.84419	0.544000	0.68410	GAG		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		14	70	0	0	0	0	14	70				
NRBP2	340371	broad.mit.edu	37	8	144919579	144919579	+	Splice_Site	SNP	C	C	T	rs570469629		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:144919579C>T	ENST00000442628.2	-	12	1215	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	NRBP2_ENST00000327830.5_Splice_Site_p.R116Q	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GACTGCTCACCGCCACTGCAG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		7341	0.0		0.0	False		,,,				2504	0.001					uc011lkt.1		NA																	0				central_nervous_system(2)	2						c.(1075-1077)CGG>CAG		nuclear receptor binding protein 2							18.0	19.0	18.0					8																	144919579		2197	4289	6486	SO:0001630	splice_region_variant	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144919579C>T	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.1076+1G>A	8.37:g.144919579C>T						NRBP2_uc003yzv.2_Missense_Mutation_p.R116Q|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_Missense_Mutation_p.R151Q|NRBP2_uc010mfl.2_Missense_Mutation_p.R151Q|NRBP2_uc010mfm.2_Missense_Mutation_p.R116Q|NRBP2_uc011lks.1_Missense_Mutation_p.R116Q|NRBP2_uc003yzy.2_Missense_Mutation_p.R116Q	p.R359Q	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1216	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		359						Missense_Mutation	SNP	ENST00000442628.2	37	c.1076G>A	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751095	0.49257	.	.	ENSG00000185189	ENST00000442628;ENST00000327830	T;T	0.29142	1.58;1.58	4.61	4.61	0.57282	.	0.323676	0.28072	N	0.016702	T	0.45135	0.1327	M	0.63843	1.955	0.38257	D	0.941772	P;D;D;D	0.71674	0.603;0.998;0.991;0.985	B;P;P;P	0.57009	0.066;0.811;0.687;0.536	T	0.48681	-0.9014	9	.	.	.	-20.1731	13.0	0.58670	0.0:1.0:0.0:0.0	.	359;151;151;116	Q9NSY0;Q9NSY0-4;Q9NSY0-2;D3DWK9	NRBP2_HUMAN;.;.;.	Q	359;116	ENSP00000414055:R359Q;ENSP00000330271:R116Q	.	R	-	2	0	NRBP2	144991567	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.086000	0.50159	2.149000	0.67028	0.579000	0.79373	CGG		0.701	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564	Missense_Mutation	4	9	0	0	0	0	4	9				
UNC13B	10497	broad.mit.edu	37	9	35377547	35377547	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:35377547C>T	ENST00000378495.3	+	15	1893	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	UNC13B_ENST00000378496.4_Silent_p.I557I|UNC13B_ENST00000396787.1_Silent_p.I569I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	557					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCATGAAGATCCGAGAGCGAA	0.507																																						uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(1669-1671)ATC>ATT		UNC13 (C. elegans)-like							83.0	78.0	80.0					9																	35377547		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35377547C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1671C>T	9.37:g.35377547C>T						UNC13B_uc003zwr.2_Silent_p.I557I	p.I557I	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		15	1963	+	all_epithelial(49;0.212)		557					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.1671C>T	CCDS6579.1																																																																																				0.507	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		16	265	0	0	0	0	16	265				
TLN1	7094	broad.mit.edu	37	9	35724888	35724888	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:35724888C>T	ENST00000314888.9	-	4	650	c.297G>A	c.(295-297)acG>acA	p.T99T	TLN1_ENST00000540444.1_Silent_p.T99T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	99	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCATGATCGTCTTCACAG	0.512																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(295-297)ACG>ACA		talin 1							235.0	201.0	212.0					9																	35724888		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35724888C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.297G>A	9.37:g.35724888C>T						TLN1_uc003zxu.3_Silent_p.T99T	p.T99T	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	651	-	all_epithelial(49;0.167)		99			FERM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.297G>A	CCDS35009.1																																																																																				0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		21	198	0	0	0	0	21	198				
TMEM2	23670	broad.mit.edu	37	9	74305092	74305092	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:74305092G>A	ENST00000377044.4	-	22	4306	c.3767C>T	c.(3766-3768)cCa>cTa	p.P1256L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P1193L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P249L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1256					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAGCGGAATGGAACGCTGCA	0.478																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(3766-3768)CCA>CTA		transmembrane protein 2 isoform a							137.0	115.0	122.0					9																	74305092		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74305092G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3767C>T	9.37:g.74305092G>A	ENSP00000366243:p.Pro1256Leu					TMEM2_uc011lrz.1_Missense_Mutation_p.P249L|TMEM2_uc010mos.2_Missense_Mutation_p.P1193L|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.P90L	p.P1256L	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	22	4307	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1256					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3767C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449366	0.43531	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.72051	-0.62;-0.55;2.62	5.98	5.08	0.68730	.	0.301241	0.31167	N	0.008140	T	0.51329	0.1668	N	0.25647	0.755	0.33894	D	0.637658	P;B	0.35077	0.483;0.418	B;B	0.26969	0.034;0.075	T	0.59402	-0.7461	10	0.15499	T	0.54	.	12.231	0.54488	0.0807:0.0:0.9193:0.0	.	1256;1193	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1256;1193;249	ENSP00000366243:P1256L;ENSP00000366266:P1193L;ENSP00000379569:P249L	ENSP00000366243:P1256L	P	-	2	0	TMEM2	73494912	1.000000	0.71417	0.903000	0.35520	0.625000	0.37756	3.579000	0.53900	2.835000	0.97688	0.650000	0.86243	CCA		0.478	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		23	74	0	0	0	0	23	74				
VPS13A	23230	broad.mit.edu	37	9	79840885	79840885	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:79840885G>A	ENST00000360280.3	+	14	1465	c.1205G>A	c.(1204-1206)aGa>aAa	p.R402K	VPS13A_ENST00000376634.4_Missense_Mutation_p.R402K|VPS13A_ENST00000357409.5_Missense_Mutation_p.R402K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R402K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	402					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTATAGCTAGACAGACGGCA	0.264																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(1204-1206)AGA>AAA		vacuolar protein sorting 13A isoform A							88.0	97.0	94.0					9																	79840885		2203	4282	6485	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79840885G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1205G>A	9.37:g.79840885G>A	ENSP00000353422:p.Arg402Lys					VPS13A_uc004akp.3_Missense_Mutation_p.R402K|VPS13A_uc004akq.3_Missense_Mutation_p.R402K|VPS13A_uc004aks.2_Missense_Mutation_p.R402K	p.R402K	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			14	1465	+			402			TPR 2.		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1205G>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427588	0.83667	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.78364	-1.04;-1.17;-1.14;-1.05	5.51	5.51	0.81932	.	0.087556	0.64402	D	0.000005	D	0.89019	0.6596	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.998;0.998	D	0.90377	0.4385	10	0.72032	D	0.01	.	13.9233	0.63945	0.0:0.0:0.8477:0.1523	.	402;402;402;402	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	402	ENSP00000365821:R402K;ENSP00000365823:R402K;ENSP00000353422:R402K;ENSP00000349985:R402K	ENSP00000349985:R402K	R	+	2	0	VPS13A	79030705	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	3.795000	0.55499	2.588000	0.87417	0.585000	0.79938	AGA		0.264	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		23	89	0	0	0	0	23	89				
DMD	1756	broad.mit.edu	37	X	32328384	32328384	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:32328384G>A	ENST00000357033.4	-	42	6138	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMD_ENST00000378677.2_Missense_Mutation_p.R1974C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1978					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTCTTCACGGACAGTGTGC	0.378																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5932-5934)CGT>TGT		dystrophin Dp427m isoform							84.0	70.0	75.0					X																	32328384		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32328384G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5932C>T	X.37:g.32328384G>A	ENSP00000354923:p.Arg1978Cys					DMD_uc004dcw.2_Missense_Mutation_p.R634C|DMD_uc004dcx.2_Missense_Mutation_p.R637C|DMD_uc004dcz.2_Missense_Mutation_p.R1855C|DMD_uc004dcy.1_Missense_Mutation_p.R1974C|DMD_uc004ddb.1_Missense_Mutation_p.R1970C|DMD_uc010ngo.1_Intron	p.R1978C	NM_004006	NP_003997	P11532	DMD_HUMAN			42	6176	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1978			Spectrin 13.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5932C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690635	0.48097	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.61742	0.08;0.08	6.16	5.3	0.74995	.	0.406531	0.17675	U	0.165837	T	0.41789	0.1174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.48640	0.894;0.913;0.913;0.913;0.913	B;B;B;B;B	0.43990	0.311;0.438;0.438;0.438;0.438	T	0.27054	-1.0085	10	0.39692	T	0.17	.	9.4809	0.38900	0.1542:0.0:0.8458:0.0	.	1970;1978;1974;637;634	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	C	1970;637;634;1974;1978;1978;1855	ENSP00000367948:R1974C;ENSP00000354923:R1978C	ENSP00000354923:R1978C	R	-	1	0	DMD	32238305	0.998000	0.40836	0.995000	0.50966	0.978000	0.69477	3.138000	0.50570	2.614000	0.88457	0.594000	0.82650	CGT		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	5	0	0	0	0	8	5				
PHKA1	5255	broad.mit.edu	37	X	71800893	71800893	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:71800893C>T	ENST00000373542.4	-	32	3790	c.3631G>A	c.(3631-3633)Gtg>Atg	p.V1211M	PHKA1_ENST00000373539.3_Missense_Mutation_p.V1228M|PHKA1_ENST00000541944.1_Missense_Mutation_p.V1139M|PHKA1_ENST00000373545.3_Missense_Mutation_p.V1169M|PHKA1_ENST00000339490.3_Missense_Mutation_p.V1198M	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1211					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCCTGCACGTAGGTGGCG	0.567																																						uc004eax.3		NA																	0				ovary(3)|skin(1)	4						c.(3631-3633)GTG>ATG		phosphorylase kinase, alpha 1 (muscle) isoform							78.0	59.0	66.0					X																	71800893		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71800893C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3631G>A	X.37:g.71800893C>T	ENSP00000362643:p.Val1211Met					PHKA1_uc004eay.3_Missense_Mutation_p.V1198M|PHKA1_uc011mqi.1_Missense_Mutation_p.V1139M|PHKA1_uc010nll.2_Missense_Mutation_p.V243M	p.V1211M	NM_002637	NP_002628	P46020	KPB1_HUMAN			32	3932	-	Renal(35;0.156)		1211					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3631G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308194	0.40895	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	4.96	1.11	0.20524	.	0.474047	0.22226	N	0.062896	D	0.90577	0.7046	L	0.38531	1.155	0.30701	N	0.750311	D;P;D;D	0.58620	0.979;0.755;0.978;0.983	B;B;P;P	0.49012	0.326;0.107;0.598;0.489	D	0.86719	0.1941	10	0.72032	D	0.01	-1.4341	4.117	0.10086	0.0:0.371:0.3299:0.299	.	1139;1169;1198;1211	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	M	1169;1211;1139;1198;1228	ENSP00000362646:V1169M;ENSP00000362643:V1211M;ENSP00000441251:V1139M;ENSP00000342469:V1198M;ENSP00000362640:V1228M	ENSP00000342469:V1198M	V	-	1	0	PHKA1	71717618	0.952000	0.32445	0.941000	0.38009	0.934000	0.57294	1.437000	0.34991	0.028000	0.15324	-0.276000	0.10085	GTG		0.567	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			7	8	0	0	0	0	7	8				
CT47B1	643311	broad.mit.edu	37	X	120008979	120008979	+	Silent	SNP	T	T	C	rs871733		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:120008979T>C	ENST00000371311.3	-	1	800	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	182										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGCCTTCTGGGGCTGCAG	0.711													N|||	2563	0.67894	0.7209	0.4524	3775	,	,		9784	0.5278		0.3897	False		,,,				2504	0.3804					uc011muc.1		NA																	0					0						c.(544-546)CCA>CCG		cancer/testis antigen family 147, member B1		C		1084,125		424,86,150,7,25	30.0	29.0	30.0		546	-2.5	0.0	X	dbSNP_86	30	1169,1220		188,394,399,218,390	no	coding-synonymous	CT47B1	NM_001145718.1		612,480,549,225,415	CC,CT,C,TT,T		48.9326,10.3391,37.3819		182/300	120008979	2253,1345	692	1589	2281	SO:0001819	synonymous_variant	643311							g.chrX:120008979T>C		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.546A>G	X.37:g.120008979T>C							p.P182P	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	801	-			182					A6NM97	Silent	SNP	ENST00000371311.3	37	c.546A>G	CCDS48161.1																																																																																				0.711	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		3	26	0	0	0	0	3	26				
SLC9A1	6548	broad.mit.edu	37	1	27436232	27436232	+	Frame_Shift_Del	DEL	C	C	-	rs547278268		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:27436232delC	ENST00000263980.3	-	3	1425	c.850delG	c.(850-852)gaafs	p.E284fs	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Frame_Shift_Del_p.E284fs	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	284					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCCACGTGTTCGTAGTTGGCA	0.642																																						uc001bnm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(850-852)GAAfs		solute carrier family 9, isoform A1	Amiloride(DB00594)						137.0	140.0	139.0					1																	27436232		2203	4300	6503	SO:0001589	frameshift_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27436232delC	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.850delG	1.37:g.27436232delC	ENSP00000263980:p.Glu284fs					SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Frame_Shift_Del_p.E284fs	p.E284fs	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	3	1476	-			284			Extracellular (Potential).		B1ALD6|D3DPL4|Q96EM2	Frame_Shift_Del	DEL	ENST00000263980.3	37	c.850delG	CCDS295.1																																																																																				0.642	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		30	57	NA	NA	NA	NA	30	57	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49427266	49427268	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:49427266_49427268delTGC	ENST00000301067.7	-	39	11219_11221	c.11220_11222delGCA	c.(11218-11223)cagcaa>caa	p.3740_3741QQ>Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3740	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3471*(1)									ctgctgctgttgctgctgctgct	0.581																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Substitution - Nonsense(1)		large_intestine(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(11218-11223)CAGCAA>CAA		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001651	inframe_deletion	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427266_49427268delTGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11220_11222delGCA	12.37:g.49427275_49427277delTGC	ENSP00000301067:p.Gln3745del	HNSCC(34;0.089)					p.3740_3741QQ>Q	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	11220_11222	-			3740_3741			Potential.|Gln-rich.		O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.11220_11222delGCA	CCDS44873.1																																																																																				0.581	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	16	NA	NA	NA	NA	8	16	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39740519	39740521	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:39740519_39740521delTTC	ENST00000167586.6	-	3	839_841	c.753_755delGAA	c.(751-756)aagaac>aac	p.K251del		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	251	Coil 1B.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CTCCTCGTGGTTCTTCTTCAGGT	0.557																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(751-756)AAGAAC>AAC		keratin 14																																				SO:0001651	inframe_deletion	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740519_39740521delTTC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.753_755delGAA	17.37:g.39740525_39740527delTTC	ENSP00000167586:p.Lys251del					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_In_Frame_Del_p.K251del	p.K251del	NM_000526	NP_000517	P02533	K1C14_HUMAN			3	814_816	-		Breast(137;0.000307)	251			Coil 1B.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	In_Frame_Del	DEL	ENST00000167586.6	37	c.753_755delGAA	CCDS11400.1																																																																																				0.557	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		26	100	NA	NA	NA	NA	26	100	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32049423	32049424	+	Frame_Shift_Ins	INS	-	-	G	rs376472382|rs12211410	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:32049423_32049424insG	ENST00000375244.3	-	10	3964_3965	c.3763_3764insC	c.(3763-3765)cgcfs	p.R1255fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.R1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACTCAGGGCGGGGGGGCTCC	0.639																																						uc003nzl.2		NA																	0					0						c.(3763-3765)CGCfs		tenascin XB isoform 1 precursor																																				SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049423_32049424insG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3764dupC	6.37:g.32049430_32049430dupG	ENSP00000364393:p.Arg1255fs						p.R1255fs	NM_019105	NP_061978	P22105	TENX_HUMAN			10	3965_3966	-			1342					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Ins	INS	ENST00000375244.3	37	c.3763_3764insC																																																																																					0.639	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		2	4	NA	NA	NA	NA	2	4	---	---	---	---
