#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
PRAMEF10	343071	broad.mit.edu	37	1	12955489	12955489	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:12955489G>A	ENST00000235347.4	-	2	269	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	64					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGAGGGAGGCTGAGGAAG	0.587																																						uc001auo.3																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(190-192)Ctc>Ttc		Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.							84.0	77.0	79.0					1																	12955489		2126	3831	5957	SO:0001583	missense	343071							g.chr1:12955489G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.190C>T	1.37:g.12955489G>A	ENSP00000235347:p.Leu64Phe						p.L64F	NM_001039361	NP_001034450	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	263	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	64					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.190C>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.992341	0.35131	.	.	ENSG00000187545	ENST00000235347	T	0.14391	2.51	1.99	1.99	0.26369	.	0.000000	0.64402	D	0.000003	T	0.37320	0.0999	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04900	-1.0919	10	0.72032	D	0.01	.	7.5431	0.27751	0.0:0.0:1.0:0.0	.	64	O60809	PRA10_HUMAN	F	64	ENSP00000235347:L64F	ENSP00000235347:L64F	L	-	1	0	PRAMEF10	12878076	0.759000	0.28416	0.046000	0.18839	0.011000	0.07611	1.740000	0.38228	1.431000	0.47355	0.400000	0.26472	CTC		0.587	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342	
CASP9	842	broad.mit.edu	37	1	15844698	15844698	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:15844698C>A	ENST00000333868.5	-	2	419	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.V109L|CASP9_ENST00000375890.4_Missense_Mutation_p.V26L|CASP9_ENST00000348549.5_Missense_Mutation_p.V109L	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	109					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGAGCACCACTGGGGTAAGG	0.517																																						uc001awn.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18						c.(325-327)Gtg>Ttg		Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.							120.0	105.0	110.0					1																	15844698		2203	4300	6503	SO:0001583	missense	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15844698C>A	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.325G>T	1.37:g.15844698C>A	ENSP00000330237:p.Val109Leu					CASP9_uc001awm.2_Missense_Mutation_p.V109L|CASP9_uc001awo.3_Missense_Mutation_p.V109L|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.V26L	p.V109L	NM_001229	NP_127463	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	1	570	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	109					B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	ENST00000333868.5	37	c.325G>T	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161879	0.57368	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T;T	0.09255	4.63;4.66;3.0;4.43;3.7;3.62	4.59	2.46	0.29980	.	3.449480	0.00447	N	0.000083	T	0.21761	0.0524	L	0.52573	1.65	0.09310	N	1	B;B;D	0.62365	0.002;0.047;0.991	B;B;P	0.56434	0.002;0.017;0.798	T	0.10660	-1.0620	10	0.28530	T	0.3	.	6.661	0.23014	0.1885:0.5446:0.2669:0.0	.	109;109;109	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	L	109;109;109;26;26;109	ENSP00000449584:V109L;ENSP00000330237:V109L;ENSP00000255256:V109L;ENSP00000365051:V26L;ENSP00000396540:V26L;ENSP00000411304:V109L	ENSP00000330237:V109L	V	-	1	0	CASP9	15717285	0.016000	0.18221	0.017000	0.16124	0.585000	0.36419	0.786000	0.26844	1.182000	0.42928	0.514000	0.50259	GTG		0.517	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1	NM_032996	
MST1L	11223	broad.mit.edu	37	1	17085042	17085042	+	RNA	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:17085042C>T	ENST00000455405.2	-	0	146							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CTGATCCAGCCGATCCACCCT	0.607																																						uc010ock.2																			0				breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(1432-1434)cGg>cAg		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17085042C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085042C>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R52Q	p.R478Q							10	1433	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1433G>A		.	.	.	.	.	.	.	.	.	.	.	10.82	1.457448	0.26161	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);	0.657623	0.12200	N	0.490348	T	0.20981	0.0505	.	.	.	.	.	.	P;B	0.34562	0.457;0.13	B;B	0.25405	0.06;0.027	T	0.25363	-1.0134	6	0.21014	T	0.42	.	6.8326	0.23919	0.0:0.9999:0.0:1.0E-4	.	478;478	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	Q	447;478;478	.	ENSP00000439273:R478Q	R	-	2	0	MST1P9	16957629	0.997000	0.39634	0.000000	0.03702	0.000000	0.00434	4.889000	0.63171	-0.000000	0.14550	0.000000	0.15137	CGG		0.607	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
MYOM3	127294	broad.mit.edu	37	1	24409117	24409117	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:24409117G>A	ENST00000374434.3	-	17	2220	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	MYOM3_ENST00000329601.7_Silent_p.A686A|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.A687A|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	686	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCGGTGGCGGCTGAGCTCT	0.622																																						uc001bin.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(2056-2058)gcC>gcT		Homo sapiens myomesin family, member 3 (MYOM3), mRNA.							41.0	48.0	46.0					1																	24409117		2082	4195	6277	SO:0001819	synonymous_variant	127294							g.chr1:24409117G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2058C>T	1.37:g.24409117G>A						MYOM3_uc001bim.4_Silent_p.A343A|MYOM3_uc001bio.3_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR	p.A686A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	16	2221	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	686			Fibronectin type-III 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.2058C>T	CCDS41281.1																																																																																				0.622	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372	
C8B	732	broad.mit.edu	37	1	57425758	57425758	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:57425758G>A	ENST00000371237.4	-	2	250	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_Missense_Mutation_p.P10S|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	62					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CAATCAATGGGCATCAGGGTA	0.498																																						uc001cyp.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(184-186)Ccc>Tcc		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.							172.0	140.0	151.0					1																	57425758		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425758G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.184C>T	1.37:g.57425758G>A	ENSP00000360281:p.Pro62Ser					C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.P10S	p.P62S	NM_000066	NP_000057	P07358	CO8B_HUMAN			1	251	-			62					A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.184C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750257	0.69533	.	.	ENSG00000021852	ENST00000371237;ENST00000543257	T;T	0.34072	1.38;1.46	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.921	T	0.58092	-0.7697	10	0.51188	T	0.08	-8.1555	17.777	0.88511	0.0:0.0:1.0:0.0	.	10;62	F5H7G1;P07358	.;CO8B_HUMAN	S	62;10	ENSP00000360281:P62S;ENSP00000442548:P10S	ENSP00000360281:P62S	P	-	1	0	C8B	57198346	1.000000	0.71417	0.964000	0.40570	0.436000	0.31835	7.161000	0.77505	2.681000	0.91329	0.563000	0.77884	CCC		0.498	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
DEPDC1	55635	broad.mit.edu	37	1	68948414	68948414	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:68948414T>C	ENST00000456315.2	-	8	1191	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	359					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAGTAGAATCTGATTCTTCTT	0.343																																						uc001dem.4																			0		p.T358T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1075-1077)tcA>tcG		Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.							100.0	86.0	90.0					1																	68948414		1568	3581	5149	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948414T>C	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1077A>G	1.37:g.68948414T>C						DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron	p.S359S	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	7	1194	-			359					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.1077A>G	CCDS44159.1																																																																																				0.343	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	
MAGI3	260425	broad.mit.edu	37	1	114225544	114225544	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:114225544G>A	ENST00000307546.9	+	21	3429	c.3354G>A	c.(3352-3354)tcG>tcA	p.S1118S	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1143	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.S1118S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATCCTTCGTCTTCAAATG	0.318																																						uc001edk.3																			1	Substitution - coding silent(1)	p.S1118S(1)	endometrium(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3352-3354)tcG>tcA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							39.0	37.0	38.0					1																	114225544		1568	3582	5150	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114225544G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3354G>A	1.37:g.114225544G>A						MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	p.S1118S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3535	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1143			PDZ 6.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3354G>A	CCDS44196.1																																																																																				0.318	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
AQP10	89872	broad.mit.edu	37	1	154296100	154296100	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:154296100G>C	ENST00000324978.3	+	5	565	c.525G>C	c.(523-525)ttG>ttC	p.L175F	AQP10_ENST00000484864.1_Missense_Mutation_p.L175F|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	175					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGGCTCTTGGCCATCCTGG	0.607																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(523-525)ttG>ttC		Homo sapiens aquaporin 10 (AQP10), mRNA.							139.0	143.0	142.0					1																	154296100		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296100G>C	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.525G>C	1.37:g.154296100G>C	ENSP00000318355:p.Leu175Phe					ATP8B2_uc001few.3_5'Flank	p.L175F	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	565	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		175					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.525G>C	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324897	0.24080	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.83992	-1.79;-1.79	4.9	-1.78	0.07957	Aquaporin-like (2);	0.083405	0.49305	D	0.000154	T	0.41096	0.1144	N	0.12637	0.245	0.34387	D	0.693756	B;P	0.34864	0.007;0.473	B;B	0.32090	0.017;0.14	T	0.11567	-1.0582	10	0.18276	T	0.48	.	6.907	0.24315	0.3557:0.0:0.5272:0.117	.	175;175	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	F	175	ENSP00000318355:L175F;ENSP00000420341:L175F	ENSP00000318355:L175F	L	+	3	2	AQP10	152562724	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.670000	0.37502	-0.136000	0.11475	-0.355000	0.07637	TTG		0.607	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
MPZL1	9019	broad.mit.edu	37	1	167734984	167734984	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:167734984T>G	ENST00000359523.2	+	2	458	c.256T>G	c.(256-258)Tcg>Gcg	p.S86A	MPZL1_ENST00000474859.1_Missense_Mutation_p.S86A|MPZL1_ENST00000392121.3_Missense_Mutation_p.S86A	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	86	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CACTACTGTGTCGGTAAGAAT	0.483																																						uc001geo.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15						c.(256-258)Tcg>Gcg		Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.							43.0	41.0	42.0					1																	167734984		2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167734984T>G	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.256T>G	1.37:g.167734984T>G	ENSP00000352513:p.Ser86Ala					MPZL1_uc001gen.4_Missense_Mutation_p.S86A|MPZL1_uc001gep.3_Missense_Mutation_p.S86A|MPZL1_uc001geq.3_Missense_Mutation_p.S86A|MPZL1_uc009wvh.3_Non-coding_Transcript	p.S86A	NM_003953	NP_003944	O95297	MPZL1_HUMAN			1	458	+	all_hematologic(923;0.215)		86			Ig-like V-type.		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.256T>G	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.248213	0.39697	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94376	-0.11;-3.41;-0.11;-0.11	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.304502	0.31909	N	0.006874	D	0.92241	0.7539	L	0.59436	1.845	0.33470	D	0.586077	D;D;D	0.64830	0.994;0.967;0.966	D;P;P	0.63283	0.913;0.775;0.892	D	0.90021	0.4128	9	0.18710	T	0.47	.	10.32	0.43760	0.1471:0.0:0.0:0.8529	.	86;86;86	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	A	86;86;86;60	ENSP00000352513:S86A;ENSP00000375968:S86A;ENSP00000420455:S86A;ENSP00000356827:S60A	ENSP00000352513:S86A	S	+	1	0	MPZL1	166001608	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	1.495000	0.35627	2.113000	0.64589	0.533000	0.62120	TCG		0.483	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569	
JMJD4	65094	broad.mit.edu	37	1	227922480	227922480	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:227922480C>A	ENST00000366758.3	-	2	437	c.438G>T	c.(436-438)caG>caT	p.Q146H	SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'Flank|JMJD4_ENST00000438896.2_Missense_Mutation_p.Q146H	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	146										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGTTGTATTCCTGGACCCCAC	0.552																																						uc001hrb.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(436-438)caG>caT		Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.							224.0	184.0	197.0					1																	227922480		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227922480C>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.438G>T	1.37:g.227922480C>A	ENSP00000355720:p.Gln146His					SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.3_Missense_Mutation_p.Q146H	p.Q146H	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN			1	438	-		Prostate(94;0.0885)	146					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.438G>T	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.83|15.83	2.950248|2.950248	0.53186|0.53186	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.15952|.	2.38|.	4.08|4.08	-0.126|-0.126	0.13515|0.13515	.|.	0.224865|.	0.43747|.	D|.	0.000530|.	T|T	0.38931|0.38931	0.1059|0.1059	L|L	0.46157|0.46157	1.445|1.445	0.21762|0.21762	N|N	0.99955|0.99955	P;P|.	0.43788|.	0.817;0.783|.	P;P|.	0.53450|.	0.693;0.726|.	T|T	0.33624|0.33624	-0.9861|-0.9861	10|5	0.49607|.	T|.	0.09|.	-11.0109|-11.0109	9.5456|9.5456	0.39279|0.39279	0.0:0.5676:0.0:0.4324|0.0:0.5676:0.0:0.4324	.|.	146;146|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	H|M	146|139	ENSP00000355720:Q146H|.	ENSP00000355720:Q146H|.	Q|R	-|-	3|2	2|0	JMJD4|JMJD4	225989103|225989103	0.804000|0.804000	0.28969|0.28969	0.059000|0.059000	0.19551|0.19551	0.966000|0.966000	0.64601|0.64601	0.678000|0.678000	0.25277|0.25277	-0.370000|-0.370000	0.08016|0.08016	-1.164000|-1.164000	0.01763|0.01763	CAG|AGG		0.552	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007	
ITGA8	8516	broad.mit.edu	37	10	15701007	15701007	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:15701007C>T	ENST00000378076.3	-	10	1292	c.939G>A	c.(937-939)acG>acA	p.T313T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	313					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGTTCTCCCGTGAAATTCT	0.328																																						uc001ioc.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(937-939)acG>acA		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							49.0	52.0	51.0					10																	15701007		2202	4299	6501	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15701007C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.939G>A	10.37:g.15701007C>T						ITGA8_uc010qcb.1_Silent_p.T298T	p.T313T	NM_003638	NP_003629	P53708	ITA8_HUMAN			9	939	-			313					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.939G>A	CCDS31155.1																																																																																				0.328	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
PTCHD3	374308	broad.mit.edu	37	10	27702997	27702997	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:27702997C>T	ENST00000438700.3	-	1	300	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	61					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCTCCGACGCCAGGGGTC	0.687																																						uc001itu.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(181-183)gcG>gcA		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							29.0	40.0	36.0					10																	27702997		2189	4289	6478	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702997C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.183G>A	10.37:g.27702997C>T							p.A61A	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			0	301	-			61					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.183G>A	CCDS31173.1																																																																																				0.687	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
PTEN	5728	broad.mit.edu	37	10	89717691	89717691	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:89717691T>G	ENST00000371953.3	+	7	2073	c.716T>G	c.(715-717)aTg>aGg	p.M239R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	239	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R234fs*9(1)|p.K237_Y240>N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAGTTCATGTACTTTGAG	0.413		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(4)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(715-717)aTg>aGg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							152.0	130.0	137.0					10																	89717691		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717691T>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.716T>G	10.37:g.89717691T>G	ENSP00000361021:p.Met239Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.M239R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1748	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	239			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.716T>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123953	0.77436	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.038168	0.85682	D	0.000000	D	0.84460	0.5477	L	0.56769	1.78	0.80722	D	1	P	0.48911	0.917	P	0.45167	0.472	D	0.84462	0.0594	9	.	.	.	-3.0578	14.9657	0.71193	0.0:0.0:0.0:1.0	.	239	P60484	PTEN_HUMAN	R	239	ENSP00000361021:M239R	.	M	+	2	0	PTEN	89707671	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.661000	0.83786	1.928000	0.55862	0.477000	0.44152	ATG		0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
NFKB2	4791	broad.mit.edu	37	10	104156679	104156679	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:104156679C>T	ENST00000369966.3	+	6	512	c.262C>T	c.(262-264)Cca>Tca	p.P88S	NFKB2_ENST00000189444.6_Missense_Mutation_p.P88S|NFKB2_ENST00000428099.1_Missense_Mutation_p.P88S	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	88	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CTACGAGGGACCAGCCAAGAT	0.602			T	IGH@	B-NHL																																	uc001kvb.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(262-264)Cca>Tca		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.							66.0	71.0	69.0					10																	104156679		2091	4209	6300	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104156679C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.262C>T	10.37:g.104156679C>T	ENSP00000358983:p.Pro88Ser					NFKB2_uc001kva.3_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.3_Missense_Mutation_p.P88S|NFKB2_uc009xxc.3_Missense_Mutation_p.P88S	p.P88S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	5	527	+		Colorectal(252;0.00957)	88			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.262C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319968	0.23994	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.41400	1.0;1.0;1.0	5.15	5.15	0.70609	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.382832	0.28921	N	0.013717	T	0.37679	0.1012	L	0.49513	1.565	0.34210	D	0.674213	B;P;B	0.43662	0.024;0.814;0.105	B;B;B	0.38954	0.01;0.286;0.053	T	0.56709	-0.7934	10	0.46703	T	0.11	.	12.807	0.57619	0.2758:0.7242:0.0:0.0	.	88;88;88	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	S	88	ENSP00000410256:P88S;ENSP00000358983:P88S;ENSP00000189444:P88S	ENSP00000189444:P88S	P	+	1	0	NFKB2	104146669	0.026000	0.19158	0.976000	0.42696	0.965000	0.64279	1.183000	0.32041	2.369000	0.80426	0.561000	0.74099	CCA		0.602	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
LRRC56	115399	broad.mit.edu	37	11	554078	554078	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:554078T>C	ENST00000270115.7	+	14	1931	c.1431T>C	c.(1429-1431)cgT>cgC	p.R477R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	477										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGGGGCGTCGGCTCCGAG	0.697																																						uc010qvz.2																			0				kidney(1)|lung(4)|skin(1)	6						c.(1429-1431)cgT>cgC		Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.							46.0	52.0	50.0					11																	554078		2202	4298	6500	SO:0001819	synonymous_variant	115399							g.chr11:554078T>C		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1431T>C	11.37:g.554078T>C							p.R477R	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1936	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	477					Q8N3Q4	Silent	SNP	ENST00000270115.7	37	c.1431T>C	CCDS7700.1																																																																																				0.697	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075	
WEE1	7465	broad.mit.edu	37	11	9608358	9608358	+	Missense_Mutation	SNP	G	G	C	rs369658374		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:9608358G>C	ENST00000450114.2	+	10	1995	c.1742G>C	c.(1741-1743)cGa>cCa	p.R581P	WEE1_ENST00000299613.6_Missense_Mutation_p.R367P	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	581					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACAATTACGAATAGAATTG	0.348																																						uc001mhs.3																			0		p.L580F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(1741-1743)cGa>cCa		Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.							49.0	50.0	50.0					11																	9608358		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608358G>C	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1742G>C	11.37:g.9608358G>C	ENSP00000402084:p.Arg581Pro					WEE1_uc001mht.3_Missense_Mutation_p.R367P	p.R581P	NM_003390	NP_001137448	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1995	+			581					B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1742G>C	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345033	0.82022	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712;ENST00000527848	T;T;T;T	0.55052	0.54;1.15;1.67;0.65	5.84	5.84	0.93424	Protein kinase-like domain (1);	0.070622	0.56097	D	0.000024	T	0.69024	0.3065	M	0.69823	2.125	0.53005	D	0.999962	D	0.76494	0.999	D	0.72982	0.979	T	0.65726	-0.6098	10	0.31617	T	0.26	-6.7935	13.3461	0.60573	0.0719:0.0:0.9281:0.0	.	581	P30291	WEE1_HUMAN	P	581;367;187;33	ENSP00000402084:R581P;ENSP00000299613:R367P;ENSP00000434148:R187P;ENSP00000432284:R33P	ENSP00000299613:R367P	R	+	2	0	WEE1	9564934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.010000	0.93611	2.758000	0.94735	0.591000	0.81541	CGA		0.348	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390	
CHRM4	1132	broad.mit.edu	37	11	46407321	46407321	+	Missense_Mutation	SNP	C	C	T	rs201837786		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:46407321C>T	ENST00000433765.2	-	1	786	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	263					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCTCCCGGGCGGCCTCCCCG	0.682																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(787-789)Gcc>Acc		Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						11.0	13.0	12.0					11																	46407321		1858	4030	5888	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407321C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.787G>A	11.37:g.46407321C>T	ENSP00000409378:p.Ala263Thr						p.A263T	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	0	787	-			263					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.787G>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.605896	0.00842	.	.	ENSG00000180720	ENST00000433765	T	0.58652	0.32	4.3	-1.25	0.09405	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28101	0.0693	N	0.05230	-0.09	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.12811	-1.0533	9	0.26408	T	0.33	.	2.9216	0.05771	0.2549:0.4864:0.1174:0.1414	.	263	P08173	ACM4_HUMAN	T	263	ENSP00000409378:A263T	ENSP00000409378:A263T	A	-	1	0	CHRM4	46363897	0.002000	0.14202	0.002000	0.10522	0.041000	0.13682	0.699000	0.25586	-0.456000	0.07043	-0.358000	0.07595	GCC		0.682	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741	
OR8H3	390152	broad.mit.edu	37	11	55890095	55890095	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:55890095T>A	ENST00000313472.3	+	1	247	c.247T>A	c.(247-249)Tta>Ata	p.L83I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACCTAAAACCTTAGCGAACTT	0.438																																						uc001nii.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(247-249)Tta>Ata		Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.							304.0	299.0	301.0					11																	55890095		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890095T>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.247T>A	11.37:g.55890095T>A	ENSP00000323928:p.Leu83Ile						p.L83I	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			0	247	+	Esophageal squamous(21;0.00693)		83					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.247T>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	9.191	1.025920	0.19512	.	.	ENSG00000181761	ENST00000313472	T	0.00438	7.42	3.44	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000943	T	0.00412	0.0013	M	0.77103	2.36	0.09310	N	1	B	0.27679	0.185	B	0.32342	0.144	T	0.42799	-0.9430	10	0.54805	T	0.06	.	7.5182	0.27612	0.1634:0.6465:0.0:0.1901	.	83	Q8N146	OR8H3_HUMAN	I	83	ENSP00000323928:L83I	ENSP00000323928:L83I	L	+	1	2	OR8H3	55646671	0.000000	0.05858	0.505000	0.27651	0.251000	0.25915	-1.062000	0.03468	-0.402000	0.07633	0.145000	0.16022	TTA		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
OR5M11	219487	broad.mit.edu	37	11	56310099	56310099	+	Missense_Mutation	SNP	A	A	T	rs570645003		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:56310099A>T	ENST00000528616.2	-	1	658	c.635T>A	c.(634-636)aTc>aAc	p.I212N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACCAAGACGATGGTGAGGGA	0.502													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22756	0.0		0.0	False		,,,				2504	0.0					uc010rjl.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(634-636)aTc>aAc		Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.							69.0	70.0	70.0					11																	56310099		2074	4233	6307	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310099A>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.635T>A	11.37:g.56310099A>T	ENSP00000432417:p.Ile212Asn					OR8U8_uc001nit.2_Intron	p.I212N	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			0	635	-			212					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.635T>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228286	0.58777	.	.	ENSG00000255223	ENST00000528616	T	0.44881	0.91	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.67496	0.2899	M	0.86864	2.845	0.35129	D	0.767781	D	0.60575	0.988	D	0.71414	0.973	T	0.80507	-0.1352	9	0.87932	D	0	.	13.5523	0.61738	1.0:0.0:0.0:0.0	.	212	Q96RB7	OR5MB_HUMAN	N	212	ENSP00000432417:I212N	ENSP00000432417:I212N	I	-	2	0	OR5M11	56066675	0.097000	0.21791	1.000000	0.80357	0.896000	0.52359	2.875000	0.48491	2.076000	0.62316	0.514000	0.50259	ATC		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245	
AHNAK	79026	broad.mit.edu	37	11	62297453	62297453	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:62297453T>A	ENST00000378024.4	-	5	4710	c.4436A>T	c.(4435-4437)gAg>gTg	p.E1479V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1479					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTTTTATCTCTCCTTCTAC	0.418																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4435-4437)gAg>gTg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							163.0	169.0	167.0					11																	62297453		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297453T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4436A>T	11.37:g.62297453T>A	ENSP00000367263:p.Glu1479Val					AHNAK_uc001ntk.1_Intron	p.E1479V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	4736	-		Melanoma(852;0.155)	1479					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4436A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	12.36	1.913645	0.33815	.	.	ENSG00000124942	ENST00000378024	T	0.05996	3.36	4.47	4.47	0.54385	.	.	.	.	.	T	0.28234	0.0697	M	0.89840	3.065	0.40013	D	0.975316	D	0.61697	0.99	D	0.63488	0.915	T	0.24584	-1.0156	9	0.56958	D	0.05	.	13.4741	0.61297	0.0:0.0:0.0:1.0	.	1479	Q09666	AHNK_HUMAN	V	1479	ENSP00000367263:E1479V	ENSP00000367263:E1479V	E	-	2	0	AHNAK	62054029	.	.	0.783000	0.31826	0.019000	0.09904	.	.	1.663000	0.50791	0.449000	0.29647	GAG		0.418	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
PLCB3	5331	broad.mit.edu	37	11	64024115	64024115	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64024115C>T	ENST00000540288.1	+	10	994	c.891C>T	c.(889-891)agC>agT	p.S297S	PLCB3_ENST00000325234.5_Silent_p.S230S|PLCB3_ENST00000279230.6_Silent_p.S297S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	297					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGCTTTAGCCGCTACCTGG	0.632																																						uc009ypi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(889-891)agC>agT		Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.							102.0	94.0	96.0					11																	64024115		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64024115C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.891C>T	11.37:g.64024115C>T						PLCB3_uc009ypg.2_Silent_p.S297S|PLCB3_uc009yph.2_Silent_p.S230S	p.S297S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			9	1018	+			297					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.891C>T	CCDS8064.1																																																																																				0.632	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		
ATG2A	23130	broad.mit.edu	37	11	64668368	64668368	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64668368T>G	ENST00000377264.3	-	30	4428	c.4316A>C	c.(4315-4317)cAc>cCc	p.H1439P	ATG2A_ENST00000421419.2_Missense_Mutation_p.H1441P	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1439					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGCCGGGGTGGGGGCCAAA	0.657																																						uc001obx.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4315-4317)cAc>cCc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							8.0	9.0	9.0					11																	64668368		2134	4214	6348	SO:0001583	missense	23130						protein binding	g.chr11:64668368T>G		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4316A>C	11.37:g.64668368T>G	ENSP00000366475:p.His1439Pro					ATG2A_uc001obw.3_Missense_Mutation_p.H204P	p.H1439P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			29	4431	-			1439					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4316A>C	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430370	0.43122	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06528	3.29;3.29	5.22	4.08	0.47627	.	0.217783	0.38663	N	0.001605	T	0.07548	0.0190	L	0.36672	1.1	0.32490	N	0.540327	P;P	0.51351	0.907;0.944	B;P	0.47470	0.346;0.548	T	0.18871	-1.0323	10	0.30854	T	0.27	.	8.6502	0.34029	0.17:0.0:0.0:0.83	.	1439;1441	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	P	1441;1439	ENSP00000410522:H1441P;ENSP00000366475:H1439P	ENSP00000366475:H1439P	H	-	2	0	ATG2A	64424944	1.000000	0.71417	0.994000	0.49952	0.749000	0.42624	1.253000	0.32886	0.912000	0.36772	0.459000	0.35465	CAC		0.657	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
TMPRSS4	56649	broad.mit.edu	37	11	117975409	117975409	+	Missense_Mutation	SNP	G	G	A	rs140457645		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:117975409G>A	ENST00000437212.3	+	5	528	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.R103H|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.R105H|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.R65H			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	105	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCCCAGTCCGCCTCTCCAAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17468	0.0		0.0	False		,,,				2504	0.001					uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(313-315)cGc>cAc		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	69.0	68.0	68.0		314,308,194,314	4.4	1.0	11	dbSNP_134	68	0,8592		0,0,4296	yes	missense,missense,missense,missense	TMPRSS4	NM_001083947.1,NM_001173551.1,NM_001173552.1,NM_019894.3	29,29,29,29	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	105/433,103/436,65/398,105/438	117975409	2,12990	2200	4296	6496	SO:0001583	missense	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117975409G>A	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.314G>A	11.37:g.117975409G>A	ENSP00000416037:p.Arg105His					TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxo.2_Missense_Mutation_p.R103H|TMPRSS4_uc010rxs.2_Missense_Mutation_p.R65H|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.R80H|TMPRSS4_uc010rxt.2_Missense_Mutation_p.R80H	p.R105H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	4	605	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	105			SRCR.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	c.314G>A	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912666	0.72983	4.55E-4	0.0	ENSG00000137648	ENST00000534111;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.3	4.39	0.52855	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000018	D	0.86531	0.5955	M	0.87900	2.915	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.982;0.998;0.999;0.999	D	0.87830	0.2644	10	0.72032	D	0.01	.	11.1706	0.48569	0.0871:0.0:0.9129:0.0	.	80;65;105;103	B7Z900;E7ERX8;Q9NRS4;Q9NRS4-3	.;.;TMPS4_HUMAN;.	H	103;65;105;105;52	ENSP00000435184:R103H;ENSP00000429209:R65H;ENSP00000416037:R105H;ENSP00000430547:R105H;ENSP00000428407:R52H	ENSP00000416037:R105H	R	+	2	0	TMPRSS4	117480619	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	3.558000	0.53749	1.243000	0.43853	0.557000	0.71058	CGC		0.587	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
C11orf63	79864	broad.mit.edu	37	11	122775064	122775064	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:122775064A>G	ENST00000531316.1	+	2	868	c.776A>G	c.(775-777)aAc>aGc	p.N259S	C11orf63_ENST00000227349.2_Missense_Mutation_p.N259S|C11orf63_ENST00000307257.6_Missense_Mutation_p.N259S			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	259					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTGGAAAAAAACAAGCTCACT	0.463																																						uc001pym.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(775-777)aAc>aGc		Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.							145.0	155.0	151.0					11																	122775064		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122775064A>G	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.776A>G	11.37:g.122775064A>G	ENSP00000431669:p.Asn259Ser					C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	p.N259S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	1073	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	259					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.776A>G	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327265	0.81690	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.61158	0.13;0.13	5.74	5.74	0.90152	.	0.077200	0.53938	D	0.000042	T	0.73697	0.3620	M	0.70595	2.14	0.42829	D	0.994012	D;D	0.76494	0.998;0.999	D;D	0.66847	0.911;0.947	T	0.77046	-0.2733	10	0.66056	D	0.02	-31.4554	14.6058	0.68478	1.0:0.0:0.0:0.0	.	259;259	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	S	259	ENSP00000227349:N259S;ENSP00000431669:N259S	ENSP00000227349:N259S	N	+	2	0	C11orf63	122280274	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.918000	0.69996	2.183000	0.69458	0.528000	0.53228	AAC		0.463	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
NR4A1	3164	broad.mit.edu	37	12	52451228	52451228	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:52451228G>A	ENST00000243050.1	+	7	1768	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	NR4A1_ENST00000545748.1_Missense_Mutation_p.S539N|NR4A1_ENST00000394824.2_Missense_Mutation_p.S485N|NR4A1_ENST00000360284.3_Missense_Mutation_p.S498N|NR4A1_ENST00000550082.1_Missense_Mutation_p.S498N|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Missense_Mutation_p.S485N	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	485					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGGATTGACAGTATCCTGGCC	0.612																																						uc001rzs.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1453-1455)aGt>aAt		Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.							138.0	123.0	128.0					12																	52451228		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451228G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1454G>A	12.37:g.52451228G>A	ENSP00000243050:p.Ser485Asn					NR4A1_uc010sno.2_Missense_Mutation_p.S498N|NR4A1_uc001rzt.3_Missense_Mutation_p.S485N|NR4A1_uc009zmc.3_Missense_Mutation_p.V99I	p.S485N	NM_002135	NP_775180	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	6	1773	+			485					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.1454G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864116	0.51482	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	5.12	4.22	0.49857	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.156813	0.64402	N	0.000019	D	0.94364	0.8188	M	0.73962	2.25	0.43430	D	0.995595	B;B	0.12013	0.001;0.005	B;B	0.15052	0.008;0.012	D	0.91497	0.5216	10	0.45353	T	0.12	.	7.2359	0.26070	0.0925:0.2806:0.6269:0.0	.	498;485	B4DML7;P22736	.;NR4A1_HUMAN	N	498;539;498;485;485;485	ENSP00000353427:S498N;ENSP00000440864:S539N;ENSP00000449539:S498N;ENSP00000243050:S485N;ENSP00000378302:S485N;ENSP00000378301:S485N	ENSP00000243050:S485N	S	+	2	0	NR4A1	50737495	0.981000	0.34729	1.000000	0.80357	0.980000	0.70556	3.029000	0.49712	1.508000	0.48769	0.655000	0.94253	AGT		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2		
AGAP2	116986	broad.mit.edu	37	12	58124715	58124715	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:58124715C>A	ENST00000547588.1	-	11	2166	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	AGAP2_ENST00000257897.3_Missense_Mutation_p.G387C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	723	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTCCTTGCCGTGGGTACTG	0.582																																						uc001spq.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(2167-2169)Ggc>Tgc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.							35.0	32.0	33.0					12																	58124715		2202	4298	6500	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124715C>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2167G>T	12.37:g.58124715C>A	ENSP00000449241:p.Gly723Cys					AGAP2_uc001spp.3_Missense_Mutation_p.G723C|AGAP2_uc001spr.3_Missense_Mutation_p.G387C	p.G723C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			10	2167	-			723			PH.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.2167G>T	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.792430|3.792430	0.70452|0.70452	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129|ENST00000328568	T;T;T|.	0.78707|.	-1.2;-1.2;-1.2|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.72228|0.72228	-0.4354|-0.4354	10|5	0.87932|.	D|.	0|.	.|.	17.5626|17.5626	0.87911|0.87911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	387;723;723|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	C|L	387;723;79|586	ENSP00000257897:G387C;ENSP00000449241:G723C;ENSP00000446683:G79C|.	ENSP00000257897:G387C|.	G|R	-|-	1|2	0|0	AGAP2|AGAP2	56410982|56410982	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.416000|0.416000	0.31233|0.31233	7.335000|7.335000	0.79234|0.79234	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.582	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
TDG	6996	broad.mit.edu	37	12	104377129	104377129	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:104377129T>A	ENST00000392872.3	+	7	988	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TDG_ENST00000544861.1_Missense_Mutation_p.F109I|TDG_ENST00000542036.1_Missense_Mutation_p.F48I|TDG_ENST00000266775.9_Missense_Mutation_p.F248I|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	252					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAACTTGGAATTTGGGCTTCA	0.299								Base excision repair (BER), DNA glycosylases																														uc001tkg.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(754-756)Ttt>Att	Base excision repair (BER), DNA glycosylases	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.							45.0	46.0	45.0					12																	104377129		2189	4284	6473	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104377129T>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.754T>A	12.37:g.104377129T>A	ENSP00000376611:p.Phe252Ile					TDG_uc009zuk.3_Missense_Mutation_p.F248I|TDG_uc010swi.2_Missense_Mutation_p.F109I|TDG_uc010swj.2_Missense_Mutation_p.F40I	p.F252I	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	6	977	+			252					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.754T>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037932	0.93630	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100;ENST00000542036	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.35414	1.06	0.80722	D	1	D;P;P	0.71674	0.998;0.893;0.951	P;P;P	0.62382	0.901;0.702;0.779	T	0.50381	-0.8835	10	0.46703	T	0.11	-19.1921	15.4266	0.75055	0.0:0.0:0.0:1.0	.	48;252;252	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	I	252;248;109;245;48	ENSP00000376611:F252I;ENSP00000266775:F248I;ENSP00000445899:F109I;ENSP00000439825:F245I;ENSP00000439054:F48I	ENSP00000266775:F248I	F	+	1	0	TDG	102901259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.982000	0.88131	2.037000	0.60232	0.460000	0.39030	TTT		0.299	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		
BTBD11	121551	broad.mit.edu	37	12	108010913	108010913	+	Silent	SNP	C	C	T	rs373750144		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:108010913C>T	ENST00000280758.5	+	8	2577	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Silent_p.G683G|BTBD11_ENST00000490090.2_Silent_p.G683G|BTBD11_ENST00000357167.4_Silent_p.G220G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	683						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGCATGGCGAGGAGAACT	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		17453	0.0		0.0	False		,,,				2504	0.001					uc001tmk.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2047-2049)ggC>ggT		Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.		T	,	0,4406		0,0,2203	139.0	115.0	123.0		660,2049	-6.6	0.6	12		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BTBD11	NM_001017523.1,NM_001018072.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	220/642,683/1105	108010913	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108010913C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2049C>T	12.37:g.108010913C>T						BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.3_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G	p.G683G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			7	2570	+			683					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2049C>T	CCDS31893.1																																																																																				0.612	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
KSR2	283455	broad.mit.edu	37	12	117993076	117993076	+	Silent	SNP	T	T	C	rs554933143		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:117993076T>C	ENST00000339824.5	-	9	2143	c.1416A>G	c.(1414-1416)acA>acG	p.T472T	KSR2_ENST00000302438.5_Silent_p.T169T|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.T443T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	472					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACGGACTCTGTCCGGACTA	0.478																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1327-1329)acA>acG		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							118.0	122.0	121.0					12																	117993076		1964	4155	6119	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117993076T>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1416A>G	12.37:g.117993076T>C							p.T443T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			8	1384	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		472					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1329A>G																																																																																					0.478	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
DIABLO	56616	broad.mit.edu	37	12	122702873	122702873	+	Silent	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:122702873G>T	ENST00000443649.3	-	4	1072	c.255C>A	c.(253-255)acC>acA	p.T85T	DIABLO_ENST00000267169.6_Silent_p.T32T|DIABLO_ENST00000353548.6_Intron|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000464942.2_Silent_p.T32T|DIABLO_ENST00000413918.1_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	85					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GAAAGGTAGAGGTGCTATCTG	0.403																																						uc010tab.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(253-255)acC>acA		Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							213.0	169.0	184.0					12																	122702873		2203	4300	6503	SO:0001819	synonymous_variant	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122702873G>T	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.255C>A	12.37:g.122702873G>T						DIABLO_uc010taa.2_Silent_p.T32T|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	p.T85T	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	3	1060	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		85	Missing (in Ref. 2; BAB71568).				B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Silent	SNP	ENST00000443649.3	37	c.255C>A	CCDS9228.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223594	0.22457	.	.	ENSG00000184047	ENST00000446652	.	.	.	5.89	3.97	0.46021	.	.	.	.	.	T	0.47911	0.1471	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	.	.	.	1.6012	3.8638	0.09007	0.139:0.2141:0.5269:0.1199	.	.	.	.	I	84	.	.	L	-	1	0	DIABLO	121268826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.807000	0.27140	1.495000	0.48549	0.655000	0.94253	CTC		0.403	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887	
KNTC1	9735	broad.mit.edu	37	12	123014673	123014673	+	Silent	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:123014673T>G	ENST00000333479.7	+	2	240	c.63T>G	c.(61-63)ggT>ggG	p.G21G	KNTC1_ENST00000450485.2_Silent_p.G21G	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	21					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGAGTGTCGGTTCAAGAAAAG	0.403																																						uc001ucv.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(61-63)ggT>ggG		Homo sapiens kinetochore associated 1 (KNTC1), mRNA.							119.0	124.0	122.0					12																	123014673		1869	4112	5981	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123014673T>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.63T>G	12.37:g.123014673T>G						KNTC1_uc010taf.2_Silent_p.G21G	p.G21G	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	1	226	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		21					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.63T>G	CCDS45002.1																																																																																				0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
GPR133	283383	broad.mit.edu	37	12	131593382	131593382	+	Silent	SNP	G	G	A	rs60880996	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:131593382G>A	ENST00000261654.5	+	18	2560	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	GPR133_ENST00000543617.1_Silent_p.S186S|GPR133_ENST00000376682.4_Silent_p.S353S|GPR133_ENST00000535015.1_Silent_p.S699S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	667					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607													G|||	11	0.00219649	0.0076	0.0	5008	,	,		12714	0.001		0.0	False		,,,				2504	0.0					uc010tbm.2																			1	Substitution - coding silent(1)	p.S667S(1)	upper_aerodigestive_tract(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2095-2097)tcG>tcA		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.		G		17,4389	24.3+/-50.5	0,17,2186	149.0	135.0	140.0		2001	-9.6	0.1	12	dbSNP_129	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR133	NM_198827.3		0,18,6485	AA,AG,GG		0.0116,0.3858,0.1384		667/875	131593382	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593382G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2001G>A	12.37:g.131593382G>A						GPR133_uc001uit.4_Silent_p.S667S|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.3_Non-coding_Transcript	p.S699S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2656	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		667					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2097G>A	CCDS9272.1																																																																																				0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
ERCC5	2073	broad.mit.edu	37	13	103514821	103514821	+	Missense_Mutation	SNP	C	C	T	rs112825485		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr13:103514821C>T	ENST00000355739.4	+	8	2745	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Silent_p.T866T	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	441					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGGAATACCGTTTACTGCA	0.493			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpu.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E					0											c.(2683-2685)cCg>cTg		Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.							106.0	99.0	102.0					13																	103514821		2203	4300	6503	SO:0001583	missense	2073		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103514821C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1322C>T	13.37:g.103514821C>T	ENSP00000347978:p.Pro441Leu					BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.P441L|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.P441L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.P273L	p.P895L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN			15	2806	+			866					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.2684C>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	6.501	0.460588	0.12342	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.17854	2.25	5.28	-1.34	0.09143	.	0.910006	0.09336	N	0.816143	T	0.05868	0.0153	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.40175	-0.9577	10	0.27082	T	0.32	0.4692	5.0367	0.14438	0.1401:0.3033:0.0:0.5566	.	441;441;866	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	L	866;441;273	ENSP00000347978:P441L	ENSP00000347978:P441L	P	+	2	0	ERCC5	102312822	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.347000	0.20014	-0.025000	0.13918	-0.218000	0.12543	CCG		0.493	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
MYH7	4625	broad.mit.edu	37	14	23889445	23889446	+	Splice_Site	INS	-	-	G	rs45504498|rs564923630	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:23889445_23889446insG	ENST00000355349.3	-	27	3499		c.e27-2		MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATGCGTGCCTGGTCAGACACA	0.629													GGG|GG|GGG|deletion	202	0.0403355	0.0144	0.0173	5008	,	,		15283	0.0565		0.0388	False		,,,				2504	0.0767					uc001wjx.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.e27-1		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.																																				SO:0001630	splice_region_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23889445_23889446insG	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3337-2->C	14.37:g.23889447_23889447dupG						MIR208B_uc021rqy.1_5'Flank	p.A1113_splice	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	27	3443	-	all_cancers(95;2.54e-05)		1113					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Splice_Site	INS	ENST00000355349.3	37	c.3337_splice	CCDS9601.1																																																																																				0.629	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Intron
MYH7	4625	broad.mit.edu	37	14	23898235	23898235	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:23898235T>G	ENST00000355349.3	-	14	1498	c.1336A>C	c.(1336-1338)Acc>Ccc	p.T446P		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	446	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCTCCAGGGTGGCATTGATG	0.567																																						uc001wjx.3																			0		p.T446T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1336-1338)Acc>Ccc		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							127.0	110.0	116.0					14																	23898235		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898235T>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1336A>C	14.37:g.23898235T>G	ENSP00000347507:p.Thr446Pro						p.T446P	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	13	1442	-	all_cancers(95;2.54e-05)		446			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1336A>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	t	17.24	3.340607	0.60963	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87887	-2.31	4.18	4.18	0.49190	Myosin head, motor domain (2);	.	.	.	.	D	0.92645	0.7663	M	0.92317	3.295	0.40255	D	0.978111	P	0.45569	0.861	P	0.56474	0.799	D	0.93160	0.6557	9	0.72032	D	0.01	.	7.0171	0.24895	0.145:0.0:0.1506:0.7044	.	446	P12883	MYH7_HUMAN	P	446	ENSP00000347507:T446P	ENSP00000347507:T446P	T	-	1	0	MYH7	22968075	0.000000	0.05858	1.000000	0.80357	0.852000	0.48524	0.266000	0.18534	1.759000	0.51996	0.374000	0.22700	ACC		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
FSCB	84075	broad.mit.edu	37	14	44975414	44975414	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:44975414A>G	ENST00000340446.4	-	1	1068	c.777T>C	c.(775-777)ccT>ccC	p.P259P	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	259						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGTTGATGGAGGCTCTATTT	0.458																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(775-777)ccT>ccC		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							63.0	67.0	65.0					14																	44975414		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975414A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.777T>C	14.37:g.44975414A>G							p.P259P	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1086	-			259					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.777T>C	CCDS9679.1																																																																																				0.458	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
SYT16	83851	broad.mit.edu	37	14	62541877	62541877	+	Missense_Mutation	SNP	G	G	A	rs201294056		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:62541877G>A	ENST00000430451.2	+	3	958	c.761G>A	c.(760-762)cGt>cAt	p.R254H	SYT16_ENST00000446982.2_Missense_Mutation_p.R254H|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	254					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAACGGCGTTATTCTGAG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19116	0.001		0.0	False		,,,				2504	0.0					uc001xfu.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(760-762)cGt>cAt		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							35.0	33.0	34.0					14																	62541877		1913	4137	6050	SO:0001583	missense	83851							g.chr14:62541877G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.761G>A	14.37:g.62541877G>A	ENSP00000394700:p.Arg254His					SYT16_uc010tsd.1_Missense_Mutation_p.R254H	p.R254H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	2	958	+			254					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.761G>A	CCDS45121.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.005	0.555607	0.13436	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.33865	1.39;3.68	5.65	1.63	0.23807	.	0.736572	0.14358	N	0.324636	T	0.19644	0.0472	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.17501	-1.0367	10	0.56958	D	0.05	-17.0882	6.1287	0.20194	0.2082:0.1596:0.6323:0.0	.	254;254	B4DZH2;Q17RD7	.;SYT16_HUMAN	H	254	ENSP00000388023:R254H;ENSP00000394700:R254H	ENSP00000394700:R254H	R	+	2	0	SYT16	61611630	0.995000	0.38212	0.152000	0.22495	0.102000	0.19082	1.051000	0.30417	0.112000	0.17975	-0.150000	0.13652	CGT		0.428	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
MAP3K9	4293	broad.mit.edu	37	14	71216774	71216774	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:71216774C>A	ENST00000554752.2	-	4	1025	c.1026G>T	c.(1024-1026)ttG>ttT	p.L342F	MAP3K9_ENST00000381250.4_Missense_Mutation_p.L342F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.L36F|MAP3K9_ENST00000555993.2_Missense_Mutation_p.L342F|MAP3K9_ENST00000554146.1_Missense_Mutation_p.L79F	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	342	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CACCAGTCAGCAACTCCCAAA	0.488																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.3																			0				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						c.(1024-1026)ttG>ttT		Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.							113.0	105.0	108.0					14																	71216774		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.chr14:71216774C>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.1026G>T	14.37:g.71216774C>A	ENSP00000451612:p.Leu342Phe					MAP3K9_uc010ttk.2_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.3_Missense_Mutation_p.L36F|MAP3K9_uc001xml.3_Missense_Mutation_p.L342F	p.L342F	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)	3	1026	-			342			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1026G>T		.	.	.	.	.	.	.	.	.	.	C	17.43	3.386703	0.61956	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.91	1.91	0.25777	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.82630	2.6	0.52501	D	0.999953	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.90836	0.4720	10	0.87932	D	0	.	2.359	0.04302	0.2368:0.4717:0.143:0.1485	.	79;342;342;36	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	F	342;342;36;342;79;70	ENSP00000451612:L342F;ENSP00000451038:L36F;ENSP00000370649:L342F;ENSP00000451921:L79F	ENSP00000005198:L342F	L	-	3	2	MAP3K9	70286527	0.997000	0.39634	0.997000	0.53966	0.635000	0.38103	0.568000	0.23623	0.058000	0.16222	-0.182000	0.12963	TTG		0.488	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		
CACNA1H	8912	broad.mit.edu	37	16	1270781	1270781	+	Silent	SNP	C	C	T	rs369051137		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:1270781C>T	ENST00000348261.5	+	35	7097	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D	CACNA1H_ENST00000565831.1_Silent_p.D2277D|CACNA1H_ENST00000358590.4_Silent_p.D2277D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2283					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTTTCTTGGACGGTAGCCACA	0.652													c|||	1	0.000199681	0.0	0.0	5008	,	,		14561	0.0		0.0	False		,,,				2504	0.001					uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6847-6849)gaC>gaT		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)		,	0,3784		0,0,1892	53.0	59.0	57.0		6831,6849	1.9	0.1	16		57	1,8235		0,1,4117	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6009	TT,TC,CC		0.0121,0.0,0.0083	,	2277/2348,2283/2354	1270781	1,12019	1892	4118	6010	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270781C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6849C>T	16.37:g.1270781C>T						CACNA1H_uc002ckt.3_Silent_p.D2277D|CACNA1H_uc002cku.3_Silent_p.D978D|CACNA1H_uc010brj.3_Silent_p.D994D|CACNA1H_uc002ckv.3_Silent_p.D972D	p.D2283D	NM_021098	NP_066921	O95180	CAC1H_HUMAN			34	7097	+		Hepatocellular(780;0.00369)	2283					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.6849C>T	CCDS45375.1																																																																																				0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
ZNF263	10127	broad.mit.edu	37	16	3339529	3339529	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:3339529G>A	ENST00000219069.5	+	6	1899	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Missense_Mutation_p.R175H	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	341					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						ATGACCGGTCGCAAGGGGATT	0.632																																						uc002cuq.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1021-1023)tcG>tcA		Homo sapiens zinc finger protein 263 (ZNF263), mRNA.							42.0	45.0	44.0					16																	3339529		2197	4300	6497	SO:0001819	synonymous_variant	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339529G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1023G>A	16.37:g.3339529G>A						ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	p.S341S	NM_005741	NP_005732	O14978	ZN263_HUMAN			5	1355	+			341					B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	c.1023G>A	CCDS10499.1																																																																																				0.632	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
IQCK	124152	broad.mit.edu	37	16	19729740	19729740	+	Missense_Mutation	SNP	G	G	C	rs545651391		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:19729740G>C	ENST00000320394.6	+	2	811	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	IQCK_ENST00000564186.1_Missense_Mutation_p.E38Q|IQCK_ENST00000433597.2_5'UTR|KNOP1_ENST00000219837.7_5'Flank|IQCK_ENST00000541926.1_Missense_Mutation_p.E38Q	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	38										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGCGTCCCGCGAGCTGCCTGT	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10932	0.0		0.0	False		,,,				2504	0.0					uc002dgr.3																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(112-114)Gag>Cag		Homo sapiens IQ motif containing K (IQCK), mRNA.							30.0	27.0	28.0					16																	19729740		2194	4298	6492	SO:0001583	missense	124152							g.chr16:19729740G>C	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.112G>C	16.37:g.19729740G>C	ENSP00000324901:p.Glu38Gln					IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.E38Q|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	p.E38Q	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN			1	811	+			38					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.112G>C	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590987	0.66219	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926	T	0.55760	0.5	4.07	2.08	0.27032	.	0.918530	0.09100	N	0.848681	T	0.54382	0.1855	L	0.50333	1.59	0.27157	N	0.961278	D;P	0.56746	0.977;0.872	P;P	0.52217	0.693;0.555	T	0.42103	-0.9471	9	.	.	.	-2.5223	6.7187	0.23318	0.2163:0.0:0.7837:0.0	.	38;38	B4DXE1;Q8N0W5	.;IQCK_HUMAN	Q	38	ENSP00000324901:E38Q	.	E	+	1	0	IQCK	19637241	0.184000	0.23200	0.003000	0.11579	0.022000	0.10575	3.226000	0.51254	0.484000	0.27630	0.462000	0.41574	GAG		0.652	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	
MVP	9961	broad.mit.edu	37	16	29855978	29855978	+	Missense_Mutation	SNP	G	G	A	rs148167046		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:29855978G>A	ENST00000357402.5	+	11	1937	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	MVP_ENST00000395353.1_Missense_Mutation_p.R600H	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	600					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.R600L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCATTCGCACTGCTGTC	0.617																																						uc002dui.3																			1	Substitution - Missense(1)	p.R600L(2)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1798-1800)cGc>cAc		Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.							108.0	100.0	103.0					16																	29855978		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855978G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1799G>A	16.37:g.29855978G>A	ENSP00000349977:p.Arg600His					BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R600H|MVP_uc010vea.2_Missense_Mutation_p.R194H	p.R600H	NM_005115	NP_059447	Q14764	MVP_HUMAN			10	1951	+			600					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1799G>A	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262940	0.95399	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.54866	0.55;0.55	5.91	5.91	0.95273	Shoulder domain (1);	0.041893	0.85682	D	0.000000	T	0.70544	0.3236	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.70680	-0.4805	10	0.62326	D	0.03	-16.0858	17.7991	0.88581	0.0:0.0:1.0:0.0	.	600	Q14764	MVP_HUMAN	H	600	ENSP00000349977:R600H;ENSP00000378760:R600H	ENSP00000349977:R600H	R	+	2	0	MVP	29763479	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	6.496000	0.73670	2.808000	0.96608	0.655000	0.94253	CGC		0.617	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115	
PRSS36	146547	broad.mit.edu	37	16	31151818	31151818	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:31151818T>C	ENST00000268281.4	-	13	2220	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PRSS36_ENST00000569305.1_Missense_Mutation_p.D716G|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	721	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCACCTCGGTCCTGGGGTTC	0.667																																						uc002ebd.3																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(2161-2163)gAc>gGc		Homo sapiens protease, serine, 36 (PRSS36), mRNA.							38.0	41.0	40.0					16																	31151818		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31151818T>C	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2162A>G	16.37:g.31151818T>C	ENSP00000268281:p.Asp721Gly					PRSS36_uc010vff.2_Missense_Mutation_p.D496G|PRSS36_uc010vfg.2_Missense_Mutation_p.D716G|PRSS36_uc010vfh.2_Intron	p.D721G	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			12	2221	-			721			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2162A>G	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089904	0.36855	.	.	ENSG00000178226	ENST00000268281	D	0.88664	-2.41	4.37	4.37	0.52481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.80121	0.4565	N	0.20574	0.59	0.30170	N	0.801373	P;P	0.34462	0.454;0.454	B;B	0.31946	0.138;0.138	T	0.77477	-0.2573	9	0.45353	T	0.12	.	10.1399	0.42730	0.0:0.0:0.0:1.0	.	716;721	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	G	721	ENSP00000268281:D721G	ENSP00000268281:D721G	D	-	2	0	PRSS36	31059319	0.987000	0.35691	1.000000	0.80357	0.905000	0.53344	1.381000	0.34362	1.957000	0.56846	0.454000	0.30748	GAC		0.667	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
RPGRIP1L	23322	broad.mit.edu	37	16	53686572	53686572	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:53686572T>C	ENST00000379925.3	-	15	2077	c.2027A>G	c.(2026-2028)aAt>aGt	p.N676S	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.N676S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.N676S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.N676S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	676	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGATAGTATTCTTCTGAAT	0.378																																						uc002ehp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(2026-2028)aAt>aGt		Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.							81.0	83.0	83.0					16																	53686572		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53686572T>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2027A>G	16.37:g.53686572T>C	ENSP00000369257:p.Asn676Ser					RPGRIP1L_uc002eho.4_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	p.N676S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			14	2091	-		all_cancers(37;0.0973)	676			C2 1.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.2027A>G	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.240385	0.22711	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.92397	-3.03;-3.03	5.45	4.36	0.52297	C2 calcium-dependent membrane targeting (1);	0.265327	0.41938	N	0.000799	D	0.85305	0.5666	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.25955	0.048;0.048;0.021;0.138	B;B;B;B	0.23150	0.044;0.044;0.044;0.039	T	0.78690	-0.2106	10	0.31617	T	0.26	-11.4053	8.0692	0.30678	0.0:0.1564:0.0:0.8436	.	676;676;676;676	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	676	ENSP00000369257:N676S;ENSP00000262135:N676S	ENSP00000262135:N676S	N	-	2	0	RPGRIP1L	52244073	1.000000	0.71417	0.883000	0.34634	0.983000	0.72400	1.270000	0.33086	0.913000	0.36797	0.460000	0.39030	AAT		0.378	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
NUDT21	11051	broad.mit.edu	37	16	56473612	56473612	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:56473612T>C	ENST00000300291.5	-	4	600	c.428A>G	c.(427-429)gAt>gGt	p.D143G		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	143	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCAATGCAATCGTCAATGAC	0.408																																						uc002eja.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(427-429)gAt>gGt		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.							193.0	194.0	193.0					16																	56473612		2198	4300	6498	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56473612T>C	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.428A>G	16.37:g.56473612T>C	ENSP00000300291:p.Asp143Gly						p.D143G	NM_007006	NP_008937	O43809	CPSF5_HUMAN			3	575	-			143			Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.428A>G	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	31	5.089143	0.94100	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.65	5.65	0.86999	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87140	0.2202	9	0.87932	D	0	.	15.8867	0.79255	0.0:0.0:0.0:1.0	.	143	O43809	CPSF5_HUMAN	G	143	.	ENSP00000300291:D143G	D	-	2	0	NUDT21	55031113	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.027000	0.88791	2.151000	0.67156	0.460000	0.39030	GAT		0.408	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006	
TMEM208	29100	broad.mit.edu	37	16	67261781	67261781	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67261781G>C	ENST00000304800.9	+	2	155	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	TMEM208_ENST00000565201.1_Missense_Mutation_p.E17Q|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563953.1_5'UTR|LRRC29_ENST00000462169.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	17					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGATATTTGAAGAGAACAG	0.532																																						uc002esi.2																			0				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(49-51)Gaa>Caa		Homo sapiens transmembrane protein 208 (TMEM208), mRNA.							72.0	77.0	75.0					16																	67261781		1946	4156	6102	SO:0001583	missense	29100					integral to membrane		g.chr16:67261781G>C		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.49G>C	16.37:g.67261781G>C	ENSP00000305892:p.Glu17Gln					LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	p.E17Q	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	155	+		Ovarian(137;0.0563)	17					Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.49G>C	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956862	0.97145	.	.	ENSG00000168701	ENST00000304800	T	0.31247	1.5	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.58302	1.8	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.10753	-1.0616	10	0.23891	T	0.37	.	18.8398	0.92177	0.0:0.0:1.0:0.0	.	17	Q9BTX3	TM208_HUMAN	Q	17	ENSP00000305892:E17Q	ENSP00000305892:E17Q	E	+	1	0	TMEM208	65819282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.838000	0.92115	2.793000	0.96121	0.655000	0.94253	GAA		0.532	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187	
EDC4	23644	broad.mit.edu	37	16	67914753	67914753	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67914753A>G	ENST00000358933.5	+	18	2630	c.2391A>G	c.(2389-2391)ggA>ggG	p.G797G	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	797					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTTGATGGAGGCCCTGGGG	0.672																																						uc002eur.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2389-2391)ggA>ggG		Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.							46.0	53.0	51.0					16																	67914753		2196	4298	6494	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914753A>G	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2391A>G	16.37:g.67914753A>G						EDC4_uc010cer.3_Silent_p.G416G|EDC4_uc002eus.3_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	p.G797G	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2630	+		Ovarian(137;0.0563)	797					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.2391A>G	CCDS10849.1																																																																																				0.672	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
PLCG2	5336	broad.mit.edu	37	16	81942161	81942161	+	Silent	SNP	C	C	T	rs11548654		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:81942161C>T	ENST00000359376.3	+	17	1912	c.1698C>T	c.(1696-1698)agC>agT	p.S566S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	566	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCGGGAGAGCGAGACCTTCC	0.592																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1696-1698)agC>agT		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.		C		0,4096		0,0,2048	76.0	82.0	80.0		1698	-3.3	1.0	16	dbSNP_120	80	1,8361		0,1,4180	no	coding-synonymous	PLCG2	NM_002661.3		0,1,6228	TT,TC,CC		0.012,0.0,0.0080		566/1266	81942161	1,12457	2048	4181	6229	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942161C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1698C>T	16.37:g.81942161C>T						PLCG2_uc010chg.1_Silent_p.S566S	p.S566S	NM_002661	NP_002652	P16885	PLCG2_HUMAN			16	1876	+			566			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1698C>T	CCDS42204.1																																																																																				0.592	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
DERL2	51009	broad.mit.edu	37	17	5383436	5383436	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:5383436G>T	ENST00000158771.4	-	6	607	c.552C>A	c.(550-552)ttC>ttA	p.F184L	DERL2_ENST00000572834.1_Missense_Mutation_p.S63Y|DERL2_ENST00000570848.1_Missense_Mutation_p.S133Y|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	184					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						CATCTTCCAAGAAAAAATATA	0.358																																						uc002gcc.1																			0				large_intestine(3)	3						c.(550-552)ttC>ttA		Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.							91.0	99.0	96.0					17																	5383436		2203	4300	6503	SO:0001583	missense	51009				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding	g.chr17:5383436G>T	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.552C>A	17.37:g.5383436G>T	ENSP00000158771:p.Phe184Leu						p.F184L	NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN			5	565	-			184					Q9Y3A7	Missense_Mutation	SNP	ENST00000158771.4	37	c.552C>A	CCDS11073.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384845	0.82792	.	.	ENSG00000072849	ENST00000158771	T	0.34667	1.35	5.66	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.92649	3.33	0.26074	N	0.981177	D	0.55385	0.971	P	0.56278	0.795	T	0.64824	-0.6316	10	0.66056	D	0.02	6.1613	13.5533	0.61745	0.0743:0.0:0.9257:0.0	.	184	Q9GZP9	DERL2_HUMAN	L	184	ENSP00000158771:F184L	ENSP00000158771:F184L	F	-	3	2	DERL2	5324160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.361000	0.59461	1.389000	0.46526	0.655000	0.94253	TTC		0.358	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219825.1	NM_016041	
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C	rs587780074|rs397516437		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7577544A>C	ENST00000269305.4	-	7	926	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(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)	CCTCCGGTTCATGCCGCCCAT	0.572		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		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"""		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G245S(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(1)	breast(10)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(6)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|skin(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|lung(1)|autonomic_ganglia(1)|pancreas(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						c.(736-738)aTg>aGg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							152.0	113.0	126.0					17																	7577544		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577544A>C	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.737T>G	17.37:g.7577544A>C	ENSP00000269305:p.Met246Arg	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.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.M246R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.737T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177746	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	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	0.99736	0.9896	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.96;1.0;1.0;0.998	D	0.97237	0.9888	10	0.87932	D	0	-28.5667	12.3101	0.54924	1.0:0.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246R;ENSP00000352610:M246R;ENSP00000269305:M246R;ENSP00000398846:M246R;ENSP00000391127:M246R;ENSP00000391478:M246R;ENSP00000425104:M114R;ENSP00000423862:M153R	ENSP00000269305:M246R	M	-	2	0	TP53	7518269	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH2	146754	broad.mit.edu	37	17	7640511	7640511	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7640511C>T	ENST00000572933.1	+	8	2565	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R369C|DNAH2_ENST00000570791.1_Missense_Mutation_p.R369C|DNAH2_ENST00000082259.3_Missense_Mutation_p.R369C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	369	Stem. {ECO:0000250}.				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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGTCTCATCCGCATCATCTG	0.517																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1105-1107)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							120.0	104.0	109.0					17																	7640511		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7640511C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1105C>T	17.37:g.7640511C>T	ENSP00000458355:p.Arg369Cys					DNAH2_uc002git.3_Missense_Mutation_p.R369C|DNAH2_uc010vuk.2_Missense_Mutation_p.R369C	p.R369C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			6	1119	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	369			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1105C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216185	0.79352	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57273	0.41;0.41	5.67	5.67	0.87782	Dynein heavy chain, domain-1 (1);	0.127149	0.53938	D	0.000052	T	0.71195	0.3311	M	0.72894	2.215	0.58432	D	0.999996	P;D	0.71674	0.839;0.998	B;D	0.66196	0.31;0.942	T	0.69993	-0.4994	10	0.44086	T	0.13	.	18.5321	0.90996	0.0:1.0:0.0:0.0	.	369;369	Q9P225;Q9P225-3	DYH2_HUMAN;.	C	369	ENSP00000373825:R369C;ENSP00000082259:R369C	ENSP00000082259:R369C	R	+	1	0	DNAH2	7581236	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.263000	0.51546	2.686000	0.91538	0.561000	0.74099	CGC		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
ALOX15B	247	broad.mit.edu	37	17	7943287	7943287	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7943287G>A	ENST00000380183.4	+	3	574	c.435G>A	c.(433-435)cgG>cgA	p.R145R	ALOX15B_ENST00000380173.2_Silent_p.R145R|ALOX15B_ENST00000573359.1_Silent_p.R145R|ALOX15B_ENST00000572022.1_Silent_p.R145R	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	145	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCAGGCCCGGCAGGAGATGT	0.607																																						uc002gju.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(433-435)cgG>cgA		Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.							49.0	46.0	47.0					17																	7943287		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7943287G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.435G>A	17.37:g.7943287G>A						ALOX15B_uc002gjv.3_Silent_p.R145R|ALOX15B_uc002gjw.3_Silent_p.R145R|ALOX15B_uc010vun.2_Silent_p.R145R|ALOX15B_uc010cnp.3_5'UTR	p.R145R	NM_001141	NP_001132	O15296	LX15B_HUMAN			2	551	+			145			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.435G>A	CCDS11128.1																																																																																				0.607	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		
GLP2R	9340	broad.mit.edu	37	17	9737155	9737155	+	Missense_Mutation	SNP	G	G	A	rs147858947	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:9737155G>A	ENST00000262441.5	+	2	734	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	74					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GAAACGACTCGGAAGTGGGCT	0.483																																						uc002gmd.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(220-222)cGg>cAg		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)	G	GLN/ARG	0,4406		0,0,2203	136.0	120.0	125.0		221	-0.7	1.0	17	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GLP2R	NM_004246.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	74/554	9737155	3,13003	2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9737155G>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.221G>A	17.37:g.9737155G>A	ENSP00000262441:p.Arg74Gln					GLP2R_uc010cog.1_Non-coding_Transcript	p.R74Q	NM_004246	NP_004237	O95838	GLP2R_HUMAN			1	221	+			74					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.221G>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807412	0.31961	0.0	3.49E-4	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.52057	0.68	5.86	-0.678	0.11353	.	0.674495	0.12326	N	0.478838	T	0.19525	0.0469	N	0.05124	-0.11	0.22896	N	0.998598	B	0.11235	0.004	B	0.06405	0.002	T	0.29458	-1.0011	10	0.02654	T	1	.	8.9522	0.35796	0.5454:0.0:0.4546:0.0	.	74	O95838	GLP2R_HUMAN	Q	74;49;74	ENSP00000262441:R74Q	ENSP00000262441:R74Q	R	+	2	0	GLP2R	9677880	0.831000	0.29352	0.964000	0.40570	0.848000	0.48234	-0.395000	0.07287	0.015000	0.14971	0.650000	0.86243	CGG		0.483	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
MYH13	8735	broad.mit.edu	37	17	10243484	10243484	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:10243484T>C	ENST00000418404.3	-	17	2202	c.2039A>G	c.(2038-2040)aAt>aGt	p.N680S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.N680S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	680	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTGGTCTCATTGGGAATCAG	0.423																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2038-2040)aAt>aGt		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							91.0	91.0	91.0					17																	10243484		1919	4151	6070	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10243484T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2039A>G	17.37:g.10243484T>C	ENSP00000404570:p.Asn680Ser						p.N680S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			17	2129	-			680			Actin-binding (By similarity).|Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2039A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148932	0.78001	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.91237	-2.81	4.12	4.12	0.48240	Myosin head, motor domain (2);	.	.	.	.	D	0.97111	0.9056	H	0.98866	4.355	0.45056	D	0.998079	D	0.76494	0.999	D	0.71656	0.974	D	0.98258	1.0497	9	0.87932	D	0	.	13.5882	0.61944	0.0:0.0:0.0:1.0	.	680	Q9UKX3	MYH13_HUMAN	S	680;355	ENSP00000252172:N680S	ENSP00000252172:N680S	N	-	2	0	MYH13	10184209	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.795000	0.85887	1.858000	0.53909	0.459000	0.35465	AAT		0.423	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
CETN1	1068	broad.mit.edu	37	18	580606	580606	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:580606G>A	ENST00000327228.3	+	1	240	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	66	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AACCCAGGAAGGAAGAGATGA	0.557																																						uc002kko.1																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(196-198)aaG>aaA		Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.							76.0	60.0	66.0					18																	580606		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580606G>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.198G>A	18.37:g.580606G>A							p.K66K	NM_004066	NP_004057	Q12798	CETN1_HUMAN			0	238	+			66			EF-hand 2.		B2R536	Silent	SNP	ENST00000327228.3	37	c.198G>A	CCDS11820.1																																																																																				0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066	
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:3126851G>A	ENST00000356443.4	-	19	3172	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.R947C|MYOM1_ENST00000261606.7_Missense_Mutation_p.R851C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	947	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R947C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423																																						uc002klp.3																			1	Substitution - Missense(1)	p.R947C(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2839-2841)Cgt>Tgt		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							64.0	57.0	59.0					18																	3126851		1919	4147	6066	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3126851G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2839C>T	18.37:g.3126851G>A	ENSP00000348821:p.Arg947Cys					MYOM1_uc002klq.3_Missense_Mutation_p.R851C	p.R947C	NM_003803	NP_003794	P52179	MYOM1_HUMAN			18	3173	-			947			Fibronectin type-III 4.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2839C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359548	0.82353	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57595	0.39;0.39;0.39	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051201	0.85682	D	0.000000	T	0.71626	0.3362	M	0.61703	1.905	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.946	T	0.73260	-0.4039	10	0.66056	D	0.02	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	851;947	P52179-2;P52179	.;MYOM1_HUMAN	C	947;947;851	ENSP00000348821:R947C;ENSP00000383413:R947C;ENSP00000261606:R851C	ENSP00000261606:R851C	R	-	1	0	MYOM1	3116851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.548000	0.82154	2.559000	0.86315	0.655000	0.94253	CGT		0.423	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
DSC2	1824	broad.mit.edu	37	18	28659892	28659892	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:28659892T>A	ENST00000280904.6	-	11	2027	c.1584A>T	c.(1582-1584)aaA>aaT	p.K528N	DSC2_ENST00000251081.6_Missense_Mutation_p.K528N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	528	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTGAAAACTTTGATTGATC	0.343																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1582-1584)aaA>aaT		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							186.0	186.0	186.0					18																	28659892		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28659892T>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1584A>T	18.37:g.28659892T>A	ENSP00000280904:p.Lys528Asn					DSC2_uc002kwk.4_Missense_Mutation_p.K528N	p.K528N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		10	2038	-			528			Cadherin 4.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1584A>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.561509	0.27915	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.52983	0.64;0.64	5.68	-1.69	0.08186	Cadherin (4);Cadherin-like (1);	1.997660	0.03141	N	0.166526	T	0.48696	0.1514	M	0.79693	2.465	0.09310	N	1	B;B	0.20550	0.046;0.037	B;B	0.24848	0.056;0.033	T	0.33420	-0.9869	10	0.44086	T	0.13	.	3.4028	0.07330	0.1314:0.08:0.4075:0.3812	.	528;528	Q02487;Q02487-2	DSC2_HUMAN;.	N	528;528;294;541	ENSP00000251081:K528N;ENSP00000280904:K528N	ENSP00000251081:K528N	K	-	3	2	DSC2	26913890	0.000000	0.05858	0.000000	0.03702	0.893000	0.52053	-0.317000	0.08060	-0.164000	0.10927	0.482000	0.46254	AAA		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
TNFSF9	8744	broad.mit.edu	37	19	6531065	6531065	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:6531065C>T	ENST00000245817.3	+	1	56	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	6					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACGCCTCTGACGCTTCACTGG	0.692																																						uc002mfh.2																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(16-18)gaC>gaT		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							37.0	44.0	42.0					19																	6531065		1954	3911	5865	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531065C>T	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.18C>T	19.37:g.6531065C>T							p.D6D	NM_003811	NP_003802	P41273	TNFL9_HUMAN			0	56	+			6					Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.18C>T	CCDS12169.1																																																																																				0.692	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811	
FBN3	84467	broad.mit.edu	37	19	8200953	8200953	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:8200953C>G	ENST00000600128.1	-	13	1897	c.1483G>C	c.(1483-1485)Gtc>Ctc	p.V495L	FBN3_ENST00000270509.2_Missense_Mutation_p.V495L|FBN3_ENST00000601739.1_Missense_Mutation_p.V495L			Q75N90	FBN3_HUMAN	fibrillin 3	495	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACCACTGACAATGCACTCG	0.612																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1483-1485)Gtc>Ctc		Homo sapiens fibrillin 3 (FBN3), mRNA.							65.0	51.0	56.0					19																	8200953		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8200953C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1483G>C	19.37:g.8200953C>G	ENSP00000470498:p.Val495Leu						p.V495L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			11	1500	-			495			EGF-like 5; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1483G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	1.468	-0.560637	0.03939	.	.	ENSG00000142449	ENST00000270509	D	0.95272	-3.66	4.19	-1.58	0.08479	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.521086	0.18925	U	0.127362	T	0.81678	0.4873	N	0.03881	-0.34	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.72027	-0.4414	10	0.31617	T	0.26	.	5.8998	0.18960	0.0:0.1648:0.3627:0.4725	.	495	Q75N90	FBN3_HUMAN	L	495	ENSP00000270509:V495L	ENSP00000270509:V495L	V	-	1	0	FBN3	8106953	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.116000	0.10724	-0.098000	0.12285	0.655000	0.94253	GTC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
WDR83	84292	broad.mit.edu	37	19	12779320	12779320	+	Splice_Site	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:12779320A>G	ENST00000418543.3	+	2	193		c.e2-1		WDR83_ENST00000242796.4_5'Flank|MAN2B1_ENST00000221363.4_5'Flank|CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000456935.2_5'Flank|WDR83OS_ENST00000222190.5_Intron|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_Intron	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83						mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CTTGTTCTGTAGGGCAAGTCT	0.557																																						uc002mue.4																			0				breast(2)|large_intestine(1)|lung(1)	4						c.e2-2		Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.							88.0	65.0	73.0					19																	12779320		2203	4300	6503	SO:0001630	splice_region_variant	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12779320A>G	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.-156-1A>G	19.37:g.12779320A>G						MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Splice_Site|WDR83OS_uc002mud.2_Intron|WDR83_uc010dyw.3_5'Flank		NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN			2	190	+								B2RAF1|Q53FT6	Splice_Site	SNP	ENST00000418543.3	37	c.-155_splice	CCDS12275.1																																																																																				0.557	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332	Intron
MYO9B	4650	broad.mit.edu	37	19	17308666	17308666	+	Splice_Site	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:17308666A>G	ENST00000594824.1	+	23	4259	c.4112A>G	c.(4111-4113)cAg>cGg	p.Q1371R	MYO9B_ENST00000595618.1_Splice_Site_p.Q1371R|MYO9B_ENST00000397274.2_Splice_Site_p.Q1371R			Q13459	MYO9B_HUMAN	myosin IXB	1371	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAAGGCTCAGGTAACAAca	0.557																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.e23+1		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							69.0	72.0	71.0					19																	17308666		1997	4152	6149	SO:0001630	splice_region_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17308666A>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4113+1A>G	19.37:g.17308666A>G						MYO9B_uc002nfi.3_Splice_Site_p.Q1371_splice|MYO9B_uc002nfj.1_Splice_Site_p.Q1371_splice|MYO9B_uc002nfl.1_5'Flank	p.Q1371_splice	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			23	4265	+			1371			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4113_splice		.	.	.	.	.	.	.	.	.	.	A	16.04	3.010211	0.54361	.	.	ENSG00000099331	ENST00000397274	D	0.84442	-1.85	4.71	4.71	0.59529	.	0.139990	0.32548	N	0.005946	D	0.87684	0.6239	L	0.50333	1.59	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	D	0.84295	0.0502	10	0.17832	T	0.49	.	10.5568	0.45123	1.0:0.0:0.0:0.0	.	1371;1371;1377	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	R	1371	ENSP00000380444:Q1371R	ENSP00000380444:Q1371R	Q	+	2	0	MYO9B	17169666	1.000000	0.71417	0.987000	0.45799	0.573000	0.36030	4.757000	0.62213	1.775000	0.52247	0.402000	0.26972	CAG		0.557	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Missense_Mutation
ZFP30	22835	broad.mit.edu	37	19	38127033	38127033	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:38127033G>A	ENST00000351218.2	-	6	966	c.409C>T	c.(409-411)Cct>Tct	p.P137S	ZFP30_ENST00000514101.2_Missense_Mutation_p.P137S|ZFP30_ENST00000392144.1_Missense_Mutation_p.P137S|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	137					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTAAGTAGGCATTTTTTCA	0.408																																						uc002ogv.1																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(409-411)Cct>Tct		Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.							95.0	100.0	98.0					19																	38127033		2202	4300	6502	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38127033G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.409C>T	19.37:g.38127033G>A	ENSP00000343581:p.Pro137Ser					ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	p.P137S	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	925	-			137					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.409C>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995541	0.00435	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05025	3.51;3.51;3.51	3.39	1.06	0.20224	.	0.234861	0.22123	N	0.064317	T	0.04815	0.0130	N	0.21194	0.64	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35748	-0.9776	10	0.54805	T	0.06	.	10.7392	0.46143	0.0:0.3602:0.6398:0.0	.	137;137	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	S	137;137;137;136	ENSP00000343581:P137S;ENSP00000422930:P137S;ENSP00000375988:P137S	ENSP00000343581:P137S	P	-	1	0	ZFP30	42818873	0.000000	0.05858	0.045000	0.18777	0.031000	0.12232	0.089000	0.15002	0.375000	0.24679	0.655000	0.94253	CCT		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898	
CEACAM4	1089	broad.mit.edu	37	19	42133314	42133314	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:42133314G>A	ENST00000221954.2	-	1	128	c.18C>T	c.(16-18)gcC>gcT	p.A6A	CEACAM4_ENST00000600925.1_Silent_p.A6A	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	6						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CACGGGGAGCGGCTGAGGGGG	0.652																																						uc010xwd.1																			0		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(16-18)gcC>gcT		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.							26.0	28.0	27.0					19																	42133314		2203	4300	6503	SO:0001819	synonymous_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42133314G>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.18C>T	19.37:g.42133314G>A						CEACAM4_uc002orh.1_Silent_p.A6A	p.A6A	NM_001817	NP_001808	O75871	CEAM4_HUMAN			0	129	-			6					Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	c.18C>T	CCDS33033.1																																																																																				0.652	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	
CLPTM1	1209	broad.mit.edu	37	19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:45476426C>T	ENST00000337392.5	+	3	418	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R76C|CLPTM1_ENST00000546079.1_5'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	90					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R90C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627																																						uc002pai.3																			2	Substitution - Missense(2)	p.R90C(3)	prostate(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(268-270)Cgc>Tgc		Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.							33.0	38.0	36.0					19																	45476426		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45476426C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.268C>T	19.37:g.45476426C>T	ENSP00000336994:p.Arg90Cys					CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.R76C	p.R90C	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	2	322	+		all_neural(266;0.224)|Ovarian(192;0.231)	90					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.268C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851095	0.71719	.	.	ENSG00000104853	ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67725	0.922;0.953	T	0.78455	-0.2197	9	0.54805	T	0.06	-24.8352	17.0775	0.86590	0.0:1.0:0.0:0.0	.	76;90	F5H8J3;O96005	.;CLPT1_HUMAN	C	76;90;90	.	ENSP00000336994:R90C	R	+	1	0	CLPTM1	50168266	0.989000	0.36119	1.000000	0.80357	0.612000	0.37316	2.923000	0.48868	2.633000	0.89246	0.555000	0.69702	CGC		0.627	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
LILRA5	353514	broad.mit.edu	37	19	54823150	54823150	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:54823150C>T	ENST00000301219.3	-	4	512	c.393G>A	c.(391-393)ctG>ctA	p.L131L	LILRA5_ENST00000446712.3_Silent_p.L119L|LILRA5_ENST00000432233.3_Silent_p.L131L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Silent_p.L119L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	131	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACCAGCTCCAGGGGGTCGC	0.622																																						uc002qfe.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(391-393)ctG>ctA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.							111.0	107.0	108.0					19																	54823150		2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823150C>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.393G>A	19.37:g.54823150C>T						LILRA5_uc002qff.3_Silent_p.L119L|LILRA5_uc010yev.2_Silent_p.L131L|LILRA5_uc010yew.2_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L|LILRA5_uc002qfh.1_Silent_p.L119L	p.L131L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	513	-	Ovarian(34;0.19)		131			Ig-like C2-type 1.		A6NHI3	Silent	SNP	ENST00000301219.3	37	c.393G>A	CCDS12888.1																																																																																				0.622	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	
NLRP13	126204	broad.mit.edu	37	19	56422072	56422072	+	Silent	SNP	G	G	A	rs185367421		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:56422072G>A	ENST00000342929.3	-	6	2138	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000588751.1_Silent_p.H713H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463																																						uc010ygg.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2137-2139)caC>caT		Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.							170.0	148.0	155.0					19																	56422072		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56422072G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2139C>T	19.37:g.56422072G>A							p.H713H	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2164	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	713					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2139C>T	CCDS33119.1																																																																																				0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
CAD	790	broad.mit.edu	37	2	27449783	27449783	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:27449783A>G	ENST00000403525.1	+	14	2195	c.2051A>G	c.(2050-2052)aAg>aGg	p.K684R	CAD_ENST00000264705.4_Missense_Mutation_p.K747R			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTTAGCAAGTTCCTGCGA	0.562																																						uc002rji.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2239-2241)aAg>aGg		Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						123.0	125.0	124.0					2																	27449783		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449783A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2051A>G	2.37:g.27449783A>G	ENSP00000384510:p.Lys684Arg					CAD_uc010eyw.3_Missense_Mutation_p.K684R	p.K747R	NM_004341	NP_004332	P27708	PYR1_HUMAN			14	2402	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		747			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2240A>G		.	.	.	.	.	.	.	.	.	.	A	17.15	3.314902	0.60524	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96073	-3.9;-3.9	4.38	4.38	0.52667	ATP-grasp fold, subdomain 2 (1);	0.047350	0.85682	N	0.000000	D	0.97682	0.9240	M	0.88775	2.98	0.80722	D	1	D;B	0.89917	1.0;0.017	D;B	0.97110	1.0;0.024	D	0.97679	1.0171	10	0.45353	T	0.12	1.0823	12.5967	0.56474	1.0:0.0:0.0:0.0	.	684;747	F8VPD4;P27708	.;PYR1_HUMAN	R	747;684	ENSP00000264705:K747R;ENSP00000384510:K684R	ENSP00000264705:K747R	K	+	2	0	CAD	27303287	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.673000	0.68109	1.849000	0.53698	0.397000	0.26171	AAG		0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
DPP10	57628	broad.mit.edu	37	2	116548668	116548668	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:116548668T>A	ENST00000410059.1	+	18	2023	c.1543T>A	c.(1543-1545)Ttg>Atg	p.L515M	DPP10_ENST00000409163.1_Missense_Mutation_p.L465M|DPP10_ENST00000393147.2_Missense_Mutation_p.L519M|DPP10_ENST00000310323.8_Missense_Mutation_p.L508M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	515						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTTTATATTGGAAAGCAA	0.328																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1555-1557)Ttg>Atg		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							54.0	56.0	56.0					2																	116548668		2201	4297	6498	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548668T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1543T>A	2.37:g.116548668T>A	ENSP00000386565:p.Leu515Met					DPP10_uc002tla.2_Missense_Mutation_p.L515M|DPP10_uc002tlb.2_Missense_Mutation_p.L465M|DPP10_uc002tlc.2_Missense_Mutation_p.L511M|DPP10_uc002tlf.2_Missense_Mutation_p.L508M	p.L519M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			17	1576	+			515					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1555T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484716	0.63962	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.54	4.39	0.52855	.	0.358790	0.26616	N	0.023381	T	0.55689	0.1936	M	0.71036	2.16	0.42581	D	0.993217	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.994	T	0.56896	-0.7903	10	0.54805	T	0.06	-11.9144	9.3771	0.38290	0.0:0.0796:0.0:0.9204	.	508;519;511;515	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	515;465;519;508;465	ENSP00000386565:L515M;ENSP00000387038:L465M;ENSP00000376855:L519M;ENSP00000309066:L508M	ENSP00000309066:L508M	L	+	1	2	DPP10	116265138	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.529000	0.35996	1.123000	0.41961	0.528000	0.53228	TTG		0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
MAP3K19	80122	broad.mit.edu	37	2	135744775	135744775	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:135744775G>A	ENST00000375845.3	-	7	1697	c.1667C>T	c.(1666-1668)aCt>aTt	p.T556I	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T443I|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.T573I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	556							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGGACCTTCAGTAGAAATCAC	0.428																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1666-1668)aCt>aTt		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							122.0	123.0	122.0					2																	135744775		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744775G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1667C>T	2.37:g.135744775G>A	ENSP00000365005:p.Thr556Ile					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T284I|YSK4_uc002tui.4_Missense_Mutation_p.T573I	p.T556I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1698	-			556					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1667C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.262738	0.00021	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.66815	-0.21;-0.23;2.15	5.28	-4.76	0.03229	.	1.265710	0.05530	N	0.563803	T	0.28566	0.0707	N	0.02011	-0.69	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.21449	-1.0245	10	0.06757	T	0.87	.	2.0362	0.03540	0.4088:0.1207:0.306:0.1645	.	443;573;556	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	556;443;573	ENSP00000365005:T556I;ENSP00000351140:T443I;ENSP00000376647:T573I	ENSP00000351140:T443I	T	-	2	0	YSK4	135461245	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.440000	0.02412	-1.152000	0.02832	-0.751000	0.03497	ACT		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
FAP	2191	broad.mit.edu	37	2	163055364	163055365	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:163055364_163055365GC>AA	ENST00000188790.4	-	16	1511_1512	c.1304_1305GC>TT	c.(1303-1305)aGC>aTT	p.S435I	FAP_ENST00000443424.1_Missense_Mutation_p.S410I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACACTTCTTGCTTGGAGGATA	0.371																																						uc002ucd.3																			0		p.P434P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1303-1305)agc>aTT		Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.																																				SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163055364_163055365GC>AA	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1304_1305delinsAA	2.37:g.163055364_163055365delinsAA	ENSP00000188790:p.Ser435Ile					FAP_uc010fpc.3_5'UTR|FAP_uc010zct.2_Missense_Mutation_p.S410I	p.S435I	NM_004460	NP_004451	Q12884	SEPR_HUMAN			15	1512_1513	-			435						Missense_Mutation	DNP	ENST00000188790.4	37	c.1304_1305GC>TT	CCDS33311.1																																																																																				0.371	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
TTN	7273	broad.mit.edu	37	2	179421857	179421857	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179421857C>T	ENST00000591111.1	-	280	83325	c.83101G>A	c.(83101-83103)Gtt>Att	p.V27701I	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20402I|TTN_ENST00000460472.2_Missense_Mutation_p.V20277I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20469I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V29342I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26774I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27701	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATACGAACATTTCTTGGG	0.403																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80320-80322)Gtt>Att		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							47.0	44.0	45.0					2																	179421857		1866	4101	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179421857C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83101G>A	2.37:g.179421857C>T	ENSP00000465570:p.Val27701Ile					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V20469I|TTN_uc021vta.1_Missense_Mutation_p.V20402I|TTN_uc021vtb.1_Missense_Mutation_p.V20277I	p.V26774I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		278	80545	-			27701			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80320G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531272	0.27387	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.81	3.01	0.34805	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39759	0.1090	N	0.25992	0.78	0.41900	D	0.990411	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.28073	-1.0055	9	0.87932	D	0	.	3.8534	0.08965	0.1233:0.5063:0.239:0.1314	.	20277;20402;20469;27701	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26774;20277;20469;20402;20274	ENSP00000343764:V26774I;ENSP00000434586:V20277I;ENSP00000340554:V20469I;ENSP00000352154:V20402I	ENSP00000340554:V20469I	V	-	1	0	TTN	179130103	0.011000	0.17503	0.996000	0.52242	0.998000	0.95712	-0.288000	0.08377	0.453000	0.26858	0.655000	0.94253	GTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179483569	179483569	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179483569T>A	ENST00000591111.1	-	201	42009	c.41785A>T	c.(41785-41787)Atc>Ttc	p.I13929F	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I6630F|TTN_ENST00000460472.2_Missense_Mutation_p.I6505F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I6697F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I15570F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13002F			Q8WZ42	TITIN_HUMAN	titin	13929	Ig-like 95.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTCTTGATTTTTGGTGCA	0.408																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39004-39006)Atc>Ttc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84.0	83.0	83.0					2																	179483569		1952	4139	6091	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483569T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41785A>T	2.37:g.179483569T>A	ENSP00000465570:p.Ile13929Phe					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I6697F|TTN_uc021vta.1_Missense_Mutation_p.I6630F|TTN_uc021vtb.1_Missense_Mutation_p.I6505F	p.I13002F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		199	39229	-			13929			Ig-like 86.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39004A>T		.	.	.	.	.	.	.	.	.	.	T	16.31	3.088335	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.48	5.48	0.80851	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75693	0.3884	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.78201	-0.2296	9	0.87932	D	0	.	15.8734	0.79141	0.0:0.0:0.0:1.0	.	6505;6630;6697;13929	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	13002;6505;6697;6630;6505	ENSP00000343764:I13002F;ENSP00000434586:I6505F;ENSP00000340554:I6697F;ENSP00000352154:I6630F	ENSP00000340554:I6697F	I	-	1	0	TTN	179191814	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.606000	0.82863	2.204000	0.70986	0.528000	0.53228	ATC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179485012	179485012	+	Silent	SNP	G	G	A	rs368200299		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179485012G>A	ENST00000591111.1	-	198	41537	c.41313C>T	c.(41311-41313)tgC>tgT	p.C13771C	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.C6472C|TTN_ENST00000460472.2_Silent_p.C6347C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.C6539C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.C15412C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.C12844C			Q8WZ42	TITIN_HUMAN	titin	13771	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGAGCTGGCAGGAGAAGA	0.418																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(38530-38532)tgC>tgT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	0,3736		0,0,1868	94.0	92.0	93.0		19041,38532,19416,19617	2.7	1.0	2		93	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	,,,	6347/26927,12844/33424,6472/27052,6539/27119	179485012	1,11955	1868	4110	5978	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485012G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41313C>T	2.37:g.179485012G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.C6539C|TTN_uc021vta.1_Silent_p.C6472C|TTN_uc021vtb.1_Silent_p.C6347C	p.C12844C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		196	38757	-			13771			Ig-like 85.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.38532C>T																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CPXM1	56265	broad.mit.edu	37	20	2776322	2776322	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:2776322C>T	ENST00000380605.2	-	11	1707	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	548					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCAGGGTCGGCGGCTGGTGTC	0.622																																						uc002wgu.3																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1642-1644)cGc>cAc		Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.							53.0	46.0	48.0					20																	2776322		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776322C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1643G>A	20.37:g.2776322C>T	ENSP00000369979:p.Arg548His					CPXM1_uc010gas.3_Intron	p.R548H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			10	1717	-			548					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1643G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629673	0.67015	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03330	3.97	5.15	4.21	0.49690	Peptidase M14, carboxypeptidase A (2);	0.097230	0.64402	D	0.000001	T	0.06005	0.0156	L	0.42008	1.315	0.50313	D	0.999869	D	0.56968	0.978	P	0.47251	0.542	T	0.35226	-0.9797	10	0.54805	T	0.06	-17.8386	11.4444	0.50114	0.0:0.9128:0.0:0.0872	.	548	Q96SM3	CPXM1_HUMAN	H	548;244	ENSP00000369979:R548H	ENSP00000369979:R548H	R	-	2	0	CPXM1	2724322	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	4.754000	0.62191	1.413000	0.46997	0.563000	0.77884	CGC		0.622	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
LZTS3	9762	broad.mit.edu	37	20	3146165	3146165	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:3146165C>T	ENST00000329152.3	-	2	2698	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.R388Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.R388Q			O60299	LZTS3_HUMAN		434						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TTCCTCTATCCGGGGCAGGAA	0.662																																						uc002wia.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1300-1302)cGg>cAg		Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.							24.0	27.0	26.0					20																	3146165		2195	4294	6489	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146165C>T																												ENST00000329152.3:c.1301G>A	20.37:g.3146165C>T	ENSP00000332123:p.Arg434Gln					ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	p.R434Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	2699	-			434					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1301G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244381	0.79912	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.36340	1.26;1.29;1.29	4.73	3.78	0.43462	.	0.157950	0.48286	D	0.000199	T	0.38134	0.1029	L	0.46157	1.445	0.39475	D	0.967785	D;D	0.67145	0.996;0.992	P;P	0.57204	0.815;0.558	T	0.24368	-1.0162	10	0.25106	T	0.35	-26.9098	4.4603	0.11663	0.0:0.6669:0.0:0.3331	.	388;434	O60299-2;O60299	.;PRIP1_HUMAN	Q	434;388;388	ENSP00000332123:R434Q;ENSP00000353496:R388Q;ENSP00000338166:R388Q	ENSP00000332123:R434Q	R	-	2	0	RP5-1187M17.10	3094165	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.901000	0.48695	2.180000	0.69256	0.561000	0.74099	CGG		0.662	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2		
CRLS1	54675	broad.mit.edu	37	20	5996124	5996124	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:5996124G>T	ENST00000378863.4	+	3	719	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	CRLS1_ENST00000378868.4_Missense_Mutation_p.D89Y|CRLS1_ENST00000452938.1_Missense_Mutation_p.D188Y	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	188					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						GACCTATGCAGATCTTATTCC	0.383																																						uc002wmn.4																			0				lung(3)|ovary(1)	4						c.(562-564)Gat>Tat		Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA.							117.0	103.0	108.0					20																	5996124		2203	4300	6503	SO:0001583	missense	54675				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr20:5996124G>T	AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.562G>T	20.37:g.5996124G>T	ENSP00000368140:p.Asp188Tyr					CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	p.D188Y	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN			2	716	+			188					D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	ENST00000378863.4	37	c.562G>T	CCDS13096.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768176	0.49680	.	.	ENSG00000088766	ENST00000378863;ENST00000452938;ENST00000378868	T	0.40225	1.04	6.03	5.08	0.68730	.	0.288717	0.43579	D	0.000557	T	0.44307	0.1287	N	0.21583	0.68	0.35890	D	0.82957	D;B;P	0.58970	0.984;0.318;0.619	P;B;P	0.61874	0.895;0.298;0.51	T	0.53279	-0.8461	10	0.72032	D	0.01	-19.4811	8.9702	0.35901	0.2043:0.0:0.7957:0.0	.	188;89;188	Q6NTG3;Q9UJA2-2;Q9UJA2	.;.;CRLS1_HUMAN	Y	188;188;89	ENSP00000416770:D188Y	ENSP00000368140:D188Y	D	+	1	0	CRLS1	5944124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.836000	0.55813	2.880000	0.98712	0.650000	0.86243	GAT		0.383	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095	
SALL4	57167	broad.mit.edu	37	20	50401201	50401201	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:50401201G>A	ENST00000217086.4	-	4	2876	c.2765C>T	c.(2764-2766)gCg>gTg	p.A922V	SALL4_ENST00000371539.3_Missense_Mutation_p.A145V|SALL4_ENST00000395997.3_Missense_Mutation_p.A485V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	922					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A922V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATTGTTCGCCCCGTGTGT	0.468																																						uc002xwh.4																			1	Substitution - Missense(1)	p.A922V(2)|p.G921W(1)	large_intestine(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2764-2766)gCg>gTg		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							81.0	72.0	75.0					20																	50401201		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401201G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2765C>T	20.37:g.50401201G>A	ENSP00000217086:p.Ala922Val					SALL4_uc010gii.3_Missense_Mutation_p.A485V|SALL4_uc002xwi.4_Missense_Mutation_p.A145V	p.A922V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			3	2866	-			922					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2765C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901649	0.33535	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.35048	3.0;3.0;1.33	3.56	3.56	0.40772	Zinc finger, C2H2 (1);	0.000000	0.42821	D	0.000641	T	0.42359	0.1199	L	0.36672	1.1	0.30361	N	0.783777	D;P;P	0.76494	0.999;0.783;0.527	D;B;B	0.70716	0.97;0.058;0.054	T	0.18116	-1.0347	10	0.13108	T	0.6	-22.8172	10.9269	0.47195	0.0:0.0:1.0:0.0	.	485;145;922	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	V	922;485;145	ENSP00000217086:A922V;ENSP00000379319:A485V;ENSP00000360594:A145V	ENSP00000217086:A922V	A	-	2	0	SALL4	49834608	1.000000	0.71417	0.873000	0.34254	0.681000	0.39784	2.406000	0.44557	2.303000	0.77524	0.561000	0.74099	GCG		0.468	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
LZTR1	8216	broad.mit.edu	37	22	21345975	21345975	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr22:21345975C>A	ENST00000215739.8	+	9	1209	c.850C>A	c.(850-852)Cgc>Agc	p.R284S	LZTR1_ENST00000389355.3_Missense_Mutation_p.R265S|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	284					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCAGCGGCGCTACGGGCA	0.632																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(850-852)Cgc>Agc		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							33.0	31.0	32.0					22																	21345975		2200	4295	6495	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21345975C>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.850C>A	22.37:g.21345975C>A	ENSP00000215739:p.Arg284Ser					LZTR1_uc002ztn.3_Missense_Mutation_p.R243S|LZTR1_uc011ahy.2_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	p.R284S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		8	953	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	284					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.850C>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671032	0.88348	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	D;D	0.85629	-2.01;-2.01	5.24	4.14	0.48551	Kelch-type beta propeller (1);	0.052090	0.85682	D	0.000000	D	0.94450	0.8214	H	0.95850	3.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.99	D;D;D;P	0.83275	0.966;0.996;0.966;0.869	D	0.95647	0.8703	10	0.72032	D	0.01	-34.3649	14.1064	0.65093	0.1609:0.8391:0.0:0.0	.	265;243;284;243	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	S	243;284;265	ENSP00000215739:R284S;ENSP00000374006:R265S	ENSP00000215739:R284S	R	+	1	0	LZTR1	19675975	0.991000	0.36638	1.000000	0.80357	0.978000	0.69477	2.945000	0.49043	2.444000	0.82710	0.462000	0.41574	CGC		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1417-1419)Gcg>Acg		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							42.0	47.0	45.0					3																	14861995		1988	4153	6141	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861995G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1417G>A	3.37:g.14861995G>A	ENSP00000285046:p.Ala473Thr					FGD5_uc011avk.2_Missense_Mutation_p.A473T	p.A473T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1527	+			473					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1417G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113079	0.20795	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.74315	-0.83;-0.69	5.01	-5.58	0.02512	.	2.684210	0.01577	N	0.020854	T	0.40694	0.1127	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33854	-0.9852	10	0.44086	T	0.13	2.2389	2.6615	0.05028	0.4363:0.301:0.1636:0.0991	.	232;473	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	473;232	ENSP00000285046:A473T;ENSP00000445949:A232T	ENSP00000285046:A473T	A	+	1	0	FGD5	14836999	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.245000	0.08890	-1.022000	0.03346	-0.218000	0.12543	GCG		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
ZBED2	79413	broad.mit.edu	37	3	111312849	111312849	+	Missense_Mutation	SNP	C	C	T	rs370143176		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:111312849C>T	ENST00000317012.4	-	2	1208	c.200G>A	c.(199-201)cGt>cAt	p.R67H	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	67							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						GTGCCCAGCACGAGCAGGAGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19447	0.0		0.0	False		,,,				2504	0.001					uc003dxy.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(199-201)cGt>cAt		Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.		C	,HIS/ARG,	0,4406		0,0,2203	112.0	111.0	111.0		,200,	-1.2	0.2	3		111	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	CD96,ZBED2	NM_005816.4,NM_024508.4,NM_198196.2	,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,	,67/219,	111312849	1,13005	2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312849C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.200G>A	3.37:g.111312849C>T	ENSP00000321370:p.Arg67His					CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R67H	p.R67H	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN			1	1101	-			67					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.200G>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413531	0.62511	0.0	1.16E-4	ENSG00000177494	ENST00000317012	.	.	.	4.26	-1.19	0.09585	Zinc finger, BED-type predicted (3);	0.000000	0.43260	U	0.000600	T	0.21921	0.0528	N	0.24115	0.695	0.09310	N	1	B	0.15930	0.015	B	0.08055	0.003	T	0.11817	-1.0572	9	0.72032	D	0.01	-3.8444	3.9546	0.09383	0.0:0.3225:0.1883:0.4892	.	67	Q9BTP6	ZBED2_HUMAN	H	67	.	ENSP00000321370:R67H	R	-	2	0	ZBED2	112795539	0.000000	0.05858	0.231000	0.23993	0.936000	0.57629	-0.557000	0.05985	0.166000	0.19597	0.563000	0.77884	CGT		0.612	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508	
MFI2	4241	broad.mit.edu	37	3	196735736	196735736	+	Silent	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:196735736G>C	ENST00000296350.5	-	12	1739	c.1626C>G	c.(1624-1626)cgC>cgG	p.R542R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	542	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACACTTGTTGCGGCCCTGCT	0.642																																						uc003fxk.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1624-1626)cgC>cgG		Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.							106.0	95.0	99.0					3																	196735736		2203	4300	6503	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735736G>C		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1626C>G	3.37:g.196735736G>C							p.R542R	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	11	1740	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		542			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1626C>G	CCDS3325.1																																																																																				0.642	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1		
ARAP2	116984	broad.mit.edu	37	4	36231022	36231022	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:36231022C>G	ENST00000303965.4	-	2	576	c.87G>C	c.(85-87)gaG>gaC	p.E29D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	29	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAACCAGACTCATGGAAAT	0.393																																						uc003gsq.2																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(85-87)gaG>gaC		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.							69.0	73.0	72.0					4																	36231022		2202	4300	6502	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36231022C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.87G>C	4.37:g.36231022C>G	ENSP00000302895:p.Glu29Asp					ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	p.E29D	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			1	425	-			29			SAM.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.87G>C	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	7.489	0.650183	0.14516	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.71103	-0.54;-0.54	5.79	0.726	0.18248	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	1.059750	0.07321	N	0.877607	T	0.61788	0.2375	L	0.44542	1.39	0.24776	N	0.992846	B	0.06786	0.001	B	0.12156	0.007	T	0.53287	-0.8460	10	0.72032	D	0.01	.	6.7595	0.23532	0.0:0.3489:0.3548:0.2963	.	29	Q8WZ64	ARAP2_HUMAN	D	29	ENSP00000302895:E29D;ENSP00000422731:E29D	ENSP00000302895:E29D	E	-	3	2	ARAP2	35907417	0.534000	0.26362	0.736000	0.30914	0.205000	0.24178	-0.293000	0.08320	0.036000	0.15547	0.644000	0.83932	GAG		0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
RBM47	54502	broad.mit.edu	37	4	40440160	40440160	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:40440160G>A	ENST00000381793.2	-	3	1147	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RBM47_ENST00000381795.6_Missense_Mutation_p.R251C|RBM47_ENST00000514014.1_Missense_Mutation_p.R213C|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R251C|RBM47_ENST00000319592.4_Missense_Mutation_p.R251C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	251	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGAGGTTGCGCACGTAGAGG	0.617																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(751-753)Cgc>Tgc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							128.0	108.0	115.0					4																	40440160		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440160G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.751C>T	4.37:g.40440160G>A	ENSP00000371212:p.Arg251Cys					RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	p.R251C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1461	-			251			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.751C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280965	0.59758	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.58	3.65	0.41850	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.095361	0.64402	D	0.000002	D	0.85613	0.5737	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88054	0.2789	10	0.87932	D	0	-18.7614	15.0807	0.72113	0.0:0.0:0.6753:0.3247	.	251;251	A0AV96-2;A0AV96	.;RBM47_HUMAN	C	251;251;251;251;213	ENSP00000320108:R251C;ENSP00000371212:R251C;ENSP00000371214:R251C;ENSP00000295971:R251C;ENSP00000423243:R213C	ENSP00000295971:R251C	R	-	1	0	RBM47	40134917	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.377000	0.44300	1.348000	0.45733	0.462000	0.41574	CGC		0.617	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
UBA6	55236	broad.mit.edu	37	4	68543331	68543331	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:68543331G>T	ENST00000322244.5	-	6	522	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	UBA6_ENST00000420827.2_Missense_Mutation_p.Q155K	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	155					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTACTAACCTGGTATTTATCT	0.308																																						uc003hdg.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(463-465)Cag>Aag		Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.							117.0	114.0	115.0					4																	68543331		2203	4300	6503	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68543331G>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.463C>A	4.37:g.68543331G>T	ENSP00000313454:p.Gln155Lys					UBA6_uc003hdi.3_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	p.Q155K	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			5	515	-			155					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.463C>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702267	0.68501	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.62788	0.0;0.0	5.16	5.16	0.70880	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.67569	2.06	0.80722	D	1	B;P;P	0.40970	0.175;0.734;0.716	B;B;B	0.35470	0.084;0.203;0.194	T	0.64317	-0.6436	10	0.38643	T	0.18	-17.9719	18.4271	0.90612	0.0:0.0:1.0:0.0	.	155;155;155	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	K	155	ENSP00000313454:Q155K;ENSP00000399234:Q155K	ENSP00000313454:Q155K	Q	-	1	0	UBA6	68225926	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.108000	0.89559	2.661000	0.90470	0.655000	0.94253	CAG		0.308	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
TMPRSS11E	28983	broad.mit.edu	37	4	69344650	69344650	+	Missense_Mutation	SNP	G	G	A	rs552753190		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:69344650G>A	ENST00000305363.4	+	9	1115	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	351	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAATGACGCCATAACTCC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.0		0.0	False		,,,				2504	0.001					uc003hdz.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1051-1053)Gcc>Acc		Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.							170.0	163.0	166.0					4																	69344650		2203	4300	6503	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344650G>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1051G>A	4.37:g.69344650G>A	ENSP00000307519:p.Ala351Thr						p.A351T	NM_014058	NP_054777	Q9UL52	TM11E_HUMAN			8	1115	+			351			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.1051G>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	G	6.950	0.545103	0.13312	.	.	ENSG00000087128	ENST00000305363	D	0.88201	-2.35	5.31	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.293000	0.24016	N	0.042327	T	0.74191	0.3684	N	0.21240	0.645	0.09310	N	0.999999	B	0.33807	0.426	B	0.21151	0.033	T	0.60332	-0.7284	10	0.14252	T	0.57	.	6.0653	0.19860	0.1696:0.1546:0.6758:0.0	.	351	Q9UL52	TM11E_HUMAN	T	351	ENSP00000307519:A351T	ENSP00000307519:A351T	A	+	1	0	TMPRSS11E	69027245	0.030000	0.19436	0.980000	0.43619	0.019000	0.09904	1.480000	0.35464	0.738000	0.32606	0.655000	0.94253	GCC		0.388	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058	
PTPN13	5783	broad.mit.edu	37	4	87671855	87671855	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:87671855A>G	ENST00000411767.2	+	18	2946	c.2883A>G	c.(2881-2883)gaA>gaG	p.E961E	PTPN13_ENST00000511467.1_Silent_p.E961E|PTPN13_ENST00000427191.2_Silent_p.E961E|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000436978.1_Silent_p.E961E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	961					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGGGAGGAAAAGCCTAGAG	0.438																																						uc003hpz.3																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2881-2883)gaA>gaG		Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.							52.0	49.0	50.0					4																	87671855		1898	4122	6020	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87671855A>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2883A>G	4.37:g.87671855A>G						PTPN13_uc003hpy.3_Silent_p.E961E|PTPN13_uc003hqa.3_Silent_p.E961E|PTPN13_uc003hqb.3_Intron	p.E961E	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	17	3363	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	961					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.2883A>G	CCDS47094.1																																																																																				0.438	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
CCNA2	890	broad.mit.edu	37	4	122744710	122744710	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:122744710G>A	ENST00000274026.5	-	1	377	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	25					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTCTTGGAGCGCCGTCTGCTG	0.692																																						uc003iec.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(73-75)gCg>gTg		Homo sapiens cyclin A2 (CCNA2), mRNA.							13.0	18.0	17.0					4																	122744710		2165	4286	6451	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122744710G>A		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.74C>T	4.37:g.122744710G>A	ENSP00000274026:p.Ala25Val						p.A25V	NM_001237	NP_001228	P20248	CCNA2_HUMAN			0	379	-			25					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.74C>T	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243814	0.22796	.	.	ENSG00000145386	ENST00000274026	T	0.13307	2.6	3.66	1.86	0.25419	.	1.608960	0.03033	N	0.152403	T	0.10423	0.0255	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29150	-1.0021	10	0.31617	T	0.26	.	5.2141	0.15332	0.1192:0.2096:0.6712:0.0	.	25	P20248	CCNA2_HUMAN	V	25	ENSP00000274026:A25V	ENSP00000274026:A25V	A	-	2	0	CCNA2	122964160	0.001000	0.12720	0.022000	0.16811	0.123000	0.20343	-0.161000	0.10026	0.319000	0.23209	0.655000	0.94253	GCG		0.692	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237	
SMARCA5	8467	broad.mit.edu	37	4	144461639	144461639	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:144461639A>T	ENST00000283131.3	+	14	2356	c.1894A>T	c.(1894-1896)Att>Ttt	p.I632F		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	632	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTCAATAGTCATTCAACAAGG	0.363																																						uc003ijg.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1894-1896)Att>Ttt		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.							80.0	78.0	79.0					4																	144461639		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144461639A>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1894A>T	4.37:g.144461639A>T	ENSP00000283131:p.Ile632Phe						p.I632F	NM_003601	NP_003592	O60264	SMCA5_HUMAN			13	2356	+	all_hematologic(180;0.158)		632			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000283131.3	37	c.1894A>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.007008	0.93287	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.76968	-1.06	5.72	5.72	0.89469	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.73598	2.24	0.80722	D	1	D	0.62365	0.991	D	0.75020	0.985	D	0.89028	0.3440	10	0.87932	D	0	-14.9108	16.0135	0.80420	1.0:0.0:0.0:0.0	.	632	O60264	SMCA5_HUMAN	F	632;575;575	ENSP00000283131:I632F	ENSP00000283131:I632F	I	+	1	0	SMARCA5	144681089	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.240000	0.95396	2.183000	0.69458	0.460000	0.39030	ATT		0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
C4orf45	152940	broad.mit.edu	37	4	159881481	159881481	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:159881481G>T	ENST00000434826.2	-	3	397	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	C4orf45_ENST00000508011.1_Intron	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	105										large_intestine(2)|lung(3)	5						AGAGAAGCTTGACTTAGTTCT	0.308																																						uc003iqf.1																			0				large_intestine(2)|lung(3)	5						c.(313-315)Caa>Aaa		Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.							54.0	54.0	54.0					4																	159881481		1798	4064	5862	SO:0001583	missense	152940							g.chr4:159881481G>T		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.313C>A	4.37:g.159881481G>T	ENSP00000412215:p.Gln105Lys					C4orf45_uc010iqt.1_Intron	p.Q105K	NM_152543	NP_689756	Q96LM5	CD045_HUMAN			2	398	-			105					A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	c.313C>A	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	G	3.068	-0.191668	0.06299	.	.	ENSG00000164123	ENST00000434826	T	0.14391	2.51	5.18	0.544	0.17185	.	1.794950	0.02635	N	0.104770	T	0.15219	0.0367	L	0.52364	1.645	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.31308	-0.9948	9	.	.	.	-3.5676	7.9387	0.29946	0.0:0.1416:0.322:0.5364	.	105	Q96LM5	CD045_HUMAN	K	105	ENSP00000412215:Q105K	.	Q	-	1	0	C4orf45	160100931	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.416000	0.21198	0.243000	0.21327	0.655000	0.94253	CAA		0.308	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543	
PLEKHG4B	153478	broad.mit.edu	37	5	140833	140833	+	Splice_Site	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140833T>G	ENST00000283426.6	+	1	459		c.e1+2		CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAGGAAGGTAAATGCTCCC	0.642																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.e1+2		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							16.0	21.0	19.0					5																	140833		2175	4263	6438	SO:0001630	splice_region_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140833T>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.409+2T>G	5.37:g.140833T>G							p.D137_splice	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	459	+			137						Splice_Site	SNP	ENST00000283426.6	37	c.409_splice	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	t	7.270	0.606862	0.14002	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	2.2	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3973	0.21618	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG4B	193833	0.020000	0.18652	0.042000	0.18584	0.051000	0.14879	-0.328000	0.07945	0.766000	0.33244	0.157000	0.16456	.		0.642	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	Intron
CTNND2	1501	broad.mit.edu	37	5	11199757	11199757	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:11199757C>T	ENST00000304623.8	-	11	1967	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CTNND2_ENST00000359640.2_Missense_Mutation_p.G593D|CTNND2_ENST00000511377.1_Missense_Mutation_p.G502D|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G256D|CTNND2_ENST00000458100.2_Missense_Mutation_p.G160D	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	593					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						GAGCTGGATGCCTCCTTGTCT	0.473																																						uc003jfa.1																			0				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						c.(1777-1779)gGc>gAc		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							90.0	85.0	87.0					5																	11199757		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.chr5:11199757C>T	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.1778G>A	5.37:g.11199757C>T	ENSP00000307134:p.Gly593Asp					CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	p.G593D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1923	-			593					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1778G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942453	0.92526	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	M	0.90082	3.085	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	0.89542	0.3793	10	0.87932	D	0	-24.4281	20.0474	0.97616	0.0:1.0:0.0:0.0	.	256;160;593	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	D	593;593;502;160;256	ENSP00000307134:G593D;ENSP00000352661:G593D;ENSP00000426510:G502D;ENSP00000391155:G160D;ENSP00000426887:G256D	ENSP00000307134:G593D	G	-	2	0	CTNND2	11252757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GGC		0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
PTGER4	5734	broad.mit.edu	37	5	40681332	40681332	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:40681332G>A	ENST00000302472.3	+	2	1261	c.237G>A	c.(235-237)acG>acA	p.T79T	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	79					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CCATCGCCACGTACATGAAGG	0.607											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(235-237)acG>acA		Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.							69.0	68.0	68.0					5																	40681332		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681332G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.237G>A	5.37:g.40681332G>A			OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.T79T	NM_000958	NP_000949	P35408	PE2R4_HUMAN			1	829	+			79					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.237G>A	CCDS3930.1																																																																																				0.607	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958	
THBS4	7060	broad.mit.edu	37	5	79373950	79373950	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:79373950A>G	ENST00000350881.2	+	17	2355	c.2165A>G	c.(2164-2166)aAc>aGc	p.N722S	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.N631S|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	722					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGCCCAGAGAACGCAGAGGTC	0.592																																						uc021yaw.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(2164-2166)aAc>aGc		Homo sapiens thrombospondin 4 (THBS4), mRNA.							100.0	79.0	86.0					5																	79373950		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79373950A>G		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2165A>G	5.37:g.79373950A>G	ENSP00000339730:p.Asn722Ser					BC047373_uc003kgi.4_Intron	p.N722S	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2356	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	722					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.2165A>G	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323437	0.81580	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.97870	-4.58;-4.58	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.97835	0.9289	L	0.48218	1.51	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.97530	1.0079	10	0.33141	T	0.24	-37.8274	15.5832	0.76462	1.0:0.0:0.0:0.0	.	722	P35443	TSP4_HUMAN	S	722;631	ENSP00000339730:N722S;ENSP00000422298:N631S	ENSP00000339730:N722S	N	+	2	0	THBS4	79409706	1.000000	0.71417	0.980000	0.43619	0.964000	0.63967	9.135000	0.94478	2.315000	0.78130	0.533000	0.62120	AAC		0.592	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
GPR98	84059	broad.mit.edu	37	5	90021005	90021005	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:90021005C>A	ENST00000405460.2	+	47	10105	c.10009C>A	c.(10009-10011)Ctt>Att	p.L3337I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3337					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGCCTTCTCTTAACAGTGT	0.264																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10009-10011)Ctt>Att		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							22.0	21.0	22.0					5																	90021005		1790	4019	5809	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021005C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10009C>A	5.37:g.90021005C>A	ENSP00000384582:p.Leu3337Ile					GPR98_uc003kjt.3_Missense_Mutation_p.L1043I|GPR98_uc003kjv.3_Missense_Mutation_p.L937I	p.L3337I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	46	10105	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3337					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10009C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081339	0.08533	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26957	1.7	5.15	-0.394	0.12434	.	0.755390	0.12946	N	0.426235	T	0.09598	0.0236	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37337	-0.9710	10	0.05959	T	0.93	.	5.1758	0.15133	0.3533:0.2826:0.3642:0.0	.	3337;3337	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	3337	ENSP00000384582:L3337I	ENSP00000296619:L3337I	L	+	1	0	GPR98	90056761	0.015000	0.18098	0.716000	0.30569	0.857000	0.48899	0.388000	0.20735	0.210000	0.20664	-0.357000	0.07601	CTT		0.264	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHB1	29930	broad.mit.edu	37	5	140432384	140432384	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140432384C>T	ENST00000306549.3	+	1	1406	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	443	Cadherin 4. {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)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAATATCCGACGTTAATG	0.448																																						uc003lik.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1327-1329)tcC>tcT		Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.							93.0	92.0	92.0					5																	140432384		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432384C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1329C>T	5.37:g.140432384C>T							p.S443S	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1406	+			443			Cadherin 4.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.1329C>T	CCDS4243.1																																																																																				0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
FAM71B	153745	broad.mit.edu	37	5	156589852	156589852	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:156589852T>C	ENST00000302938.4	-	2	1519	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	475						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTCTCGTGTTTTTATGGCC	0.527																																						uc003lwn.3																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1423-1425)aAc>aGc		Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.							206.0	199.0	201.0					5																	156589852		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589852T>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1424A>G	5.37:g.156589852T>C	ENSP00000305596:p.Asn475Ser						p.N475S	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1524	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	475					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1424A>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	0.219	-1.030024	0.02045	.	.	ENSG00000170613	ENST00000302938	T	0.17854	2.25	3.57	7.36E-4	0.14043	.	0.999425	0.08093	N	0.999024	T	0.12732	0.0309	L	0.51422	1.61	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.42932	-0.9422	10	0.08599	T	0.76	-4.8034	4.6693	0.12682	0.0:0.1206:0.3683:0.5111	.	475	Q8TC56	FA71B_HUMAN	S	475	ENSP00000305596:N475S	ENSP00000305596:N475S	N	-	2	0	FAM71B	156522430	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.179000	0.16840	-0.006000	0.14370	0.533000	0.62120	AAC		0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
GABRA6	2559	broad.mit.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:161128598C>T	ENST00000274545.5	+	9	1614	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_ENST00000523217.1_Missense_Mutation_p.A384V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	394					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1180-1182)gCg>gTg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	106.0	108.0					5																	161128598		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128598C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1181C>T	5.37:g.161128598C>T	ENSP00000274545:p.Ala394Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	p.A394V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1519	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	394					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1181C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058849	0.01950	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.203	0.13204	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.119710	0.06693	N	0.770002	T	0.62744	0.2453	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47182	-0.9137	10	0.30078	T	0.28	.	2.5722	0.04798	0.3645:0.3806:0.1184:0.1366	.	394	Q16445	GBRA6_HUMAN	V	394;384	ENSP00000274545:A394V;ENSP00000430527:A384V	ENSP00000274545:A394V	A	+	2	0	GABRA6	161061176	0.001000	0.12720	0.026000	0.17262	0.022000	0.10575	-0.310000	0.08135	-0.032000	0.13758	0.655000	0.94253	GCG		0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
MDC1	9656	broad.mit.edu	37	6	30675376	30675376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:30675376C>A	ENST00000376406.3	-	8	3627	c.2980G>T	c.(2980-2982)Gga>Tga	p.G994*	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	994				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACTGGGGATCCCCTTCCACCT	0.637								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(2980-2982)Gga>Tga	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							105.0	117.0	113.0					6																	30675376		1509	2707	4216	SO:0001587	stop_gained	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675376C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2980G>T	6.37:g.30675376C>A	ENSP00000365588:p.Gly994*					MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	p.G994*	NM_014641	NP_055456	Q14676	MDC1_HUMAN			7	3420	-			994	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	ENST00000376406.3	37	c.2980G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	45	12.018219	0.99627	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	.	.	.	3.61	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.36723	D	0.881299	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	0.0288	7.4517	0.27242	0.0:0.8709:0.0:0.1291	.	.	.	.	X	994	.	ENSP00000365588:G994X	G	-	1	0	MDC1	30783355	0.068000	0.21057	0.210000	0.23637	0.527000	0.34593	0.979000	0.29500	0.800000	0.34041	0.443000	0.29094	GGA		0.637	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
DST	667	broad.mit.edu	37	6	56476386	56476386	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:56476386A>G	ENST00000361203.3	-	34	4441	c.4434T>C	c.(4432-4434)agT>agC	p.S1478S	DST_ENST00000370788.2_Silent_p.S1478S|DST_ENST00000370754.5_Silent_p.S1656S|DST_ENST00000446842.2_Silent_p.S1152S|DST_ENST00000370769.4_Silent_p.S1478S|DST_ENST00000244364.6_Silent_p.S1152S|DST_ENST00000421834.2_Silent_p.S1478S|DST_ENST00000312431.6_Silent_p.S1478S			Q03001	DYST_HUMAN	dystonin	1478					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTCCTCACTGGAAATCT	0.333																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3454-3456)agT>agC		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							103.0	97.0	99.0					6																	56476386		1808	4073	5881	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56476386A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4434T>C	6.37:g.56476386A>G						DST_uc021zax.1_Silent_p.S1152S	p.S1152S	NM_015548	NP_056363	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3564	-	Lung NSC(77;0.103)		3556					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.3456T>C																																																																																					0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
PTP4A1	7803	broad.mit.edu	37	6	64289185	64289185	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:64289185C>A	ENST00000370651.3	+	5	1506	c.353C>A	c.(352-354)gCa>gAa	p.A118E	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	118	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			GTTGCCCTAGCATTAATTGAA	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)	uc003pek.3																			0				large_intestine(3)|lung(4)|skin(1)	8						c.(352-354)gCa>gAa		Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.							117.0	110.0	112.0					6																	64289185		2203	4300	6503	SO:0001583	missense	7803				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity	g.chr6:64289185C>A	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.353C>A	6.37:g.64289185C>A	ENSP00000359685:p.Ala118Glu					PTP4A1_uc003pel.3_Missense_Mutation_p.A118E|PTP4A1_uc021zbm.1_Non-coding_Transcript	p.A118E	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)		6	1339	+	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		118			Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.		B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	ENST00000370651.3	37	c.353C>A	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507125	0.96386	.	.	ENSG00000112245	ENST00000370651	D	0.85411	-1.98	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90761	0.4665	10	0.87932	D	0	-16.9852	20.394	0.98981	0.0:1.0:0.0:0.0	.	118	Q93096	TP4A1_HUMAN	E	118	ENSP00000359685:A118E	ENSP00000359685:A118E	A	+	2	0	PTP4A1	64347144	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.033000	0.70925	2.830000	0.97506	0.585000	0.79938	GCA		0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2		
CEP57L1	285753	broad.mit.edu	37	6	109480497	109480497	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:109480497T>C	ENST00000517392.1	+	9	1274	c.848T>C	c.(847-849)aTc>aCc	p.I283T	CEP57L1_ENST00000368968.2_Missense_Mutation_p.I283T|CEP57L1_ENST00000523787.1_Missense_Mutation_p.I286T|CEP57L1_ENST00000368970.2_Missense_Mutation_p.I300T|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000407272.1_Missense_Mutation_p.I283T|CEP57L1_ENST00000521522.1_Intron|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000359793.3_Missense_Mutation_p.I283T	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	283					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GACCCACATATCCTTCAGAAA	0.433																																						uc010kdk.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(847-849)aTc>aCc		Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.							107.0	97.0	101.0					6																	109480497		2203	4300	6503	SO:0001583	missense	285753					microtubule|microtubule organizing center		g.chr6:109480497T>C	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.848T>C	6.37:g.109480497T>C	ENSP00000427844:p.Ile283Thr					CEP57L1_uc003psx.4_Missense_Mutation_p.I283T|CEP57L1_uc010kdl.3_Missense_Mutation_p.I283T|CEP57L1_uc003psy.4_Missense_Mutation_p.I283T	p.I283T	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN			10	1425	+			283					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.848T>C	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	T	9.562	1.118634	0.20877	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000368968;ENST00000522490;ENST00000368970;ENST00000523787;ENST00000359793;ENST00000523174	T;T;T;T;T;T;T	0.48836	0.92;0.92;0.93;0.8;0.93;0.92;0.92	4.86	-4.86	0.03132	.	0.899723	0.09241	N	0.829204	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33548	-0.9864	10	0.16420	T	0.52	18.1687	7.2812	0.26312	0.1358:0.4557:0.0:0.4085	.	283;283	Q8IYX8;G5E992	CE57L_HUMAN;.	T	283;283;283;162;300;286;283;64	ENSP00000427844:I283T;ENSP00000383936:I283T;ENSP00000357964:I283T;ENSP00000429957:I162T;ENSP00000357966:I300T;ENSP00000430529:I286T;ENSP00000352841:I283T	ENSP00000352841:I283T	I	+	2	0	CEP57L1	109587190	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.246000	0.08878	-1.199000	0.02666	-0.911000	0.02809	ATC		0.433	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830	
TBC1D32	221322	broad.mit.edu	37	6	121433663	121433663	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:121433663C>G	ENST00000398212.2	-	29	3361	c.3312G>C	c.(3310-3312)agG>agC	p.R1104S	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R1145S|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1104					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AAATATGTAGCCTTGGCAACC	0.338																																						uc003pyo.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55						c.(3310-3312)agG>agC		Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.							86.0	86.0	86.0					6																	121433663		1810	4069	5879	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121433663C>G	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3312G>C	6.37:g.121433663C>G	ENSP00000381270:p.Arg1104Ser						p.R1104S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	28	3380	-			1104					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.3312G>C	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044002	0.36085	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26223	1.75;1.75	5.98	0.93	0.19454	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.72894	2.215	0.49798	D	0.999824	D	0.89917	1.0	D	0.91635	0.999	T	0.07102	-1.0790	10	0.46703	T	0.11	.	5.4878	0.16759	0.0:0.2199:0.1364:0.6437	.	1104	Q96NH3	BROMI_HUMAN	S	1145;1104	ENSP00000275159:R1145S;ENSP00000381270:R1104S	ENSP00000275159:R1145S	R	-	3	2	C6orf170	121475362	1.000000	0.71417	0.959000	0.39883	0.047000	0.14425	0.462000	0.21956	0.157000	0.19338	-0.324000	0.08512	AGG		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
GRM1	2911	broad.mit.edu	37	6	146708084	146708084	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:146708084A>T	ENST00000282753.1	+	6	1896	c.1661A>T	c.(1660-1662)gAa>gTa	p.E554V	GRM1_ENST00000392299.2_Missense_Mutation_p.E554V|GRM1_ENST00000507907.1_Missense_Mutation_p.E554V|GRM1_ENST00000492807.2_Missense_Mutation_p.E554V|GRM1_ENST00000361719.2_Missense_Mutation_p.E554V|GRM1_ENST00000355289.4_Missense_Mutation_p.E554V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	554					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AAAGAGAATGAATATGTGCAA	0.438																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1660-1662)gAa>gTa		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						152.0	143.0	146.0					6																	146708084		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146708084A>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1661A>T	6.37:g.146708084A>T	ENSP00000282753:p.Glu554Val					GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	p.E554V	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	6	2131	+		Ovarian(120;0.0387)	554					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1661A>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643063	0.87859	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.27	5.27	0.74061	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.962;0.999;0.991	D	0.97845	1.0271	10	0.87932	D	0	.	14.859	0.70366	1.0:0.0:0.0:0.0	.	554;554;554	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	V	554	ENSP00000354896:E554V;ENSP00000376119:E554V;ENSP00000424095:E554V;ENSP00000282753:E554V;ENSP00000347437:E554V;ENSP00000425599:E554V	ENSP00000282753:E554V	E	+	2	0	GRM1	146749777	1.000000	0.71417	0.885000	0.34714	0.966000	0.64601	8.635000	0.91006	1.963000	0.57068	0.477000	0.44152	GAA		0.438	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
PLEKHG1	57480	broad.mit.edu	37	6	151117039	151117039	+	Splice_Site	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:151117039G>T	ENST00000358517.2	+	5	840		c.e5+1		PLEKHG1_ENST00000367328.1_Splice_Site			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTATCCAAGGTATGGATCGA	0.403																																						uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.e5+1		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							156.0	143.0	147.0					6																	151117039		2203	4300	6503	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151117039G>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.629+1G>T	6.37:g.151117039G>T						PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc003qny.1_Splice_Site_p.R210_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice	p.R269_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	5	894	+			210			DH.		Q5T1F2	Splice_Site	SNP	ENST00000358517.2	37	c.806_splice	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208149	0.79240	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5735	0.95432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG1	151158732	1.000000	0.71417	0.981000	0.43875	0.783000	0.44284	9.414000	0.97362	2.636000	0.89361	0.655000	0.94253	.		0.403	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		Intron
SYNE1	23345	broad.mit.edu	37	6	152792795	152792795	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:152792795C>T	ENST00000367255.5	-	16	2170	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SYNE1_ENST00000413186.2_Silent_p.L523L|SYNE1_ENST00000367253.4_Silent_p.L523L|SYNE1_ENST00000466159.2_Silent_p.L523L|SYNE1_ENST00000495090.2_Silent_p.L90L|SYNE1_ENST00000341594.5_Silent_p.L530L|SYNE1_ENST00000367248.3_Silent_p.L513L|SYNE1_ENST00000265368.4_Silent_p.L523L|SYNE1_ENST00000423061.1_Silent_p.L530L|SYNE1_ENST00000448038.1_Silent_p.L530L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	523					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L523L(2)|p.L530L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGACTTCAGCTTTGACT	0.438										HNSCC(10;0.0054)																												uc021zhb.1																			3	Substitution - coding silent(3)	p.L523L(3)|p.L530L(1)	lung(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1567-1569)ctG>ctA		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							148.0	141.0	144.0					6																	152792795		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152792795C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1569G>A	6.37:g.152792795C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.4_Silent_p.L530L|SYNE1_uc003qou.4_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L	p.L523L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	13	1792	-		Ovarian(120;0.0955)	523					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.1569G>A	CCDS5236.2																																																																																				0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SLC29A4	222962	broad.mit.edu	37	7	5330388	5330388	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:5330388C>T	ENST00000396872.3	+	3	356	c.195C>T	c.(193-195)gaC>gaT	p.D65D	SLC29A4_ENST00000406453.3_Silent_p.D65D|SLC29A4_ENST00000297195.4_Silent_p.D65D			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	65					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGCCCGATGACCGTTATCACG	0.587																																						uc003sod.3																			0		p.D64N(4)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(193-195)gaC>gaT		Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.							106.0	79.0	88.0					7																	5330388		2203	4300	6503	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330388C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.195C>T	7.37:g.5330388C>T						SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.D65D|SLC29A4_uc003soe.3_Silent_p.D65D	p.D65D	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	2	356	+		Ovarian(82;0.0175)	65					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.195C>T	CCDS5340.1																																																																																				0.587	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247	
CPVL	54504	broad.mit.edu	37	7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:29134756G>A	ENST00000409850.1	-	9	1052	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	CPVL_ENST00000396276.3_Missense_Mutation_p.R136C|CPVL_ENST00000265394.5_Missense_Mutation_p.R136C|CPVL_ENST00000488891.2_5'Flank			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	136						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCTGTCACGCACTGTGAAA	0.547																																						uc003szv.3																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(406-408)Cgt>Tgt		Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.							131.0	108.0	116.0					7																	29134756		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29134756G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.406C>T	7.37:g.29134756G>A	ENSP00000387164:p.Arg136Cys					CPVL_uc003szw.3_Missense_Mutation_p.R136C|CPVL_uc003szx.3_Missense_Mutation_p.R136C	p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			4	525	-			136					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.406C>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577178	0.28092	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.31	2.5	0.30297	.	0.454964	0.26863	N	0.022116	T	0.80352	0.4607	L	0.54323	1.7	0.32437	N	0.54725	B	0.19331	0.035	B	0.14578	0.011	T	0.74615	-0.3606	10	0.38643	T	0.18	-5.9473	4.6742	0.12703	0.2324:0.3185:0.449:0.0	.	136	Q9H3G5	CPVL_HUMAN	C	136;136;136;20;66;20;66	ENSP00000265394:R136C;ENSP00000379572:R136C;ENSP00000387164:R136C;ENSP00000409036:R66C;ENSP00000417015:R20C;ENSP00000395690:R66C	ENSP00000265394:R136C	R	-	1	0	CPVL	29101281	0.407000	0.25352	0.512000	0.27736	0.049000	0.14656	0.849000	0.27723	0.619000	0.30197	0.561000	0.74099	CGT		0.547	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
RABGEF1	27342	broad.mit.edu	37	7	66270262	66270262	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:66270262T>C	ENST00000284957.5	+	8	1033	c.956T>C	c.(955-957)cTc>cCc	p.L319P	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L319P|KCTD7_ENST00000451741.2_Missense_Mutation_p.L319P|KCTD7_ENST00000510829.2_Missense_Mutation_p.L319P|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L332P|KCTD7_ENST00000380828.2_Missense_Mutation_p.L359P|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L333P			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	536					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCCCCACCCTCATCTACATT	0.522																																						uc003tvf.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						c.(574-576)cTc>cCc		Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							137.0	111.0	119.0					7																	66270262		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66270262T>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.956T>C	7.37:g.66270262T>C	ENSP00000284957:p.Leu319Pro					RABGEF1_uc003tvg.3_Missense_Mutation_p.L127P|RABGEF1_uc003tvh.3_Missense_Mutation_p.L319P|RABGEF1_uc010lag.3_Missense_Mutation_p.L319P|RABGEF1_uc011kee.2_Missense_Mutation_p.L333P|RABGEF1_uc003tvi.3_Missense_Mutation_p.L153P	p.L192P	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			11	1791	+			536			Interaction with ubiquitinated proteins.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.575T>C	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628572	0.87560	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.6	5.6	0.85130	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	H	0.97874	4.095	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	0.90450	0.4438	10	0.87932	D	0	-13.7905	14.9658	0.71193	0.0:0.0:0.0:1.0	.	333;153;536	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	P	403;359;319;319;235;319;319;332;333	ENSP00000370208:L359P;ENSP00000421124:L319P;ENSP00000398177:L319P;ENSP00000284957:L319P;ENSP00000415815:L319P;ENSP00000403429:L332P;ENSP00000390480:L333P	ENSP00000370207:L403P	L	+	2	0	RABGEF1;KCTD7	65907697	1.000000	0.71417	0.988000	0.46212	0.933000	0.57130	7.564000	0.82326	2.135000	0.66039	0.533000	0.62120	CTC		0.522	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
RBM48	84060	broad.mit.edu	37	7	92158936	92158936	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92158936T>C	ENST00000265732.5	+	2	299	c.258T>C	c.(256-258)ttT>ttC	p.F86F	PEX1_ENST00000428214.1_5'Flank|PEX1_ENST00000248633.4_5'Flank|RBM48_ENST00000481551.1_Silent_p.F86F|PEX1_ENST00000438045.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	86	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)										CAGAAGACTTTACTGAAGTTT	0.353																																						uc003uma.3																			0											c.(256-258)ttT>ttC		Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.							86.0	81.0	83.0					7																	92158936		1827	4083	5910	SO:0001819	synonymous_variant	84060						nucleotide binding	g.chr7:92158936T>C	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.258T>C	7.37:g.92158936T>C						PEX1_uc003uly.3_5'Flank|PEX1_uc011khr.2_5'Flank|PEX1_uc010ley.3_5'Flank|PEX1_uc011khs.2_5'Flank|RBM48_uc011khu.1_Silent_p.F86F|RBM48_uc003ulz.3_Silent_p.F86F	p.F86F			Q5RL73	CG064_HUMAN			1	299	+			86					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	c.258T>C	CCDS43615.1																																																																																				0.353	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
HEPACAM2	253012	broad.mit.edu	37	7	92821587	92821587	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92821587G>A	ENST00000394468.2	-	9	1442	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P435L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Silent_p.A443A|HEPACAM2_ENST00000453812.2_Silent_p.A478A	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	455					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTGCTGCTGGGCAGGGATGT	0.453																																						uc011khy.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1432-1434)gcC>gcT		Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.							142.0	119.0	127.0					7																	92821587		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92821587G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1365C>T	7.37:g.92821587G>A						HEPACAM2_uc003uml.3_Silent_p.A443A|HEPACAM2_uc010lff.3_Missense_Mutation_p.P435L|HEPACAM2_uc003umm.3_Silent_p.A455A	p.A478A	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN			9	1457	-			455					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.1434C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717269	0.30413	.	.	ENSG00000188175	ENST00000440868	T	0.60920	0.15	4.55	0.241	0.15494	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36744	-0.9735	8	0.59425	D	0.04	-8.4356	0.1217	0.00065	0.2669:0.1994:0.2667:0.2669	.	435	C9JN07	.	L	435	ENSP00000389592:P435L	ENSP00000389592:P435L	P	-	2	0	HEPACAM2	92659523	0.469000	0.25846	0.998000	0.56505	0.450000	0.32258	-0.655000	0.05348	0.209000	0.20645	0.563000	0.77884	CCC		0.453	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
CALCR	799	broad.mit.edu	37	7	93055835	93055835	+	Missense_Mutation	SNP	G	G	A	rs567560525		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:93055835G>A	ENST00000394441.1	-	13	1573	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	CALCR_ENST00000426151.1_Missense_Mutation_p.R420C|CALCR_ENST00000360249.4_Missense_Mutation_p.R436C|CALCR_ENST00000421592.1_Missense_Mutation_p.R436C|CALCR_ENST00000359558.2_Missense_Mutation_p.R454C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	454					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGGAGGGGCGCCTCCCCCAA	0.557																																						uc003umv.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1360-1362)Cgc>Tgc		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						58.0	63.0	61.0					7																	93055835		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055835G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1258C>T	7.37:g.93055835G>A	ENSP00000377959:p.Arg420Cys					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C	p.R454C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1660	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		436					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1360C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342209	0.61073	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.92	0.834	0.18880	.	.	.	.	.	T	0.41627	0.1167	L	0.58101	1.795	0.09310	N	1	D;P	0.60575	0.988;0.918	P;P	0.54924	0.764;0.462	T	0.25502	-1.0130	9	0.66056	D	0.02	.	3.5976	0.08012	0.0895:0.3154:0.4327:0.1624	.	454;420	F5H605;A4D1G6	.;.	C	454;436;436;420;420	ENSP00000352561:R454C;ENSP00000353385:R436C;ENSP00000399552:R436C;ENSP00000377959:R420C;ENSP00000389295:R420C	ENSP00000352561:R454C	R	-	1	0	CALCR	92893771	0.918000	0.31147	0.000000	0.03702	0.007000	0.05969	1.194000	0.32174	0.041000	0.15688	0.585000	0.79938	CGC		0.557	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
ANKRD7	56311	broad.mit.edu	37	7	117864828	117864828	+	5'UTR	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:117864828C>T	ENST00000265224.4	+	0	99				ANKRD7_ENST00000433239.1_5'Flank|ANKRD7_ENST00000357099.4_5'UTR|ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000477532.1_Intron	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7						male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602																																						uc003vji.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29								Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.																																				SO:0001623	5_prime_UTR_variant	56311				male gonad development			g.chr7:117864828C>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.-57C>T	7.37:g.117864828C>T								NM_019644	NP_062618	Q92527	ANKR7_HUMAN			0		+								B4DYF5|Q96QN1|Q9UDM3	Translation_Start_Site	SNP	ENST00000265224.4	37		CCDS43638.1																																																																																				0.602	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
PLAT	5327	broad.mit.edu	37	8	42037449	42037449	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:42037449T>G	ENST00000220809.4	-	12	1614	c.1358A>C	c.(1357-1359)gAg>gCg	p.E453A	PLAT_ENST00000524009.1_Missense_Mutation_p.E364A|PLAT_ENST00000270189.6_Silent_p.R284R|PLAT_ENST00000519510.1_Missense_Mutation_p.E390A|PLAT_ENST00000429710.2_Missense_Mutation_p.E327A|PLAT_ENST00000429089.2_Missense_Mutation_p.E453A|PLAT_ENST00000352041.3_Missense_Mutation_p.E407A	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	453	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CTTACAGGCCTCATGCTTGCC	0.652																																						uc003xos.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1357-1359)gAg>gCg		Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						50.0	34.0	39.0					8																	42037449		2203	4299	6502	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42037449T>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1358A>C	8.37:g.42037449T>G	ENSP00000220809:p.Glu453Ala					PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	p.E453A	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		11	1567	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	453			Peptidase S1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.1358A>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077338	0.36662	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.39	5.39	0.77823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.280171	0.38897	N	0.001534	D	0.84946	0.5585	N	0.17594	0.5	0.80722	D	1	B;B;B;B;B;B	0.27732	0.104;0.048;0.057;0.187;0.045;0.187	B;B;B;B;B;B	0.39185	0.113;0.113;0.226;0.293;0.104;0.184	D	0.83720	0.0192	10	0.51188	T	0.08	.	15.7067	0.77588	0.0:0.0:0.0:1.0	.	327;364;390;453;407;453	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	A	453;453;407;390;327;364	ENSP00000392045:E453A;ENSP00000220809:E453A;ENSP00000270188:E407A;ENSP00000428886:E390A;ENSP00000407861:E327A;ENSP00000429401:E364A	ENSP00000220809:E453A	E	-	2	0	PLAT	42156606	0.960000	0.32886	0.916000	0.36221	0.231000	0.25187	3.889000	0.56212	2.168000	0.68352	0.533000	0.62120	GAG		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
CYP7B1	9420	broad.mit.edu	37	8	65517238	65517238	+	Splice_Site	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:65517238C>A	ENST00000310193.3	-	5	1407		c.e5+1		CYP7B1_ENST00000523954.1_Splice_Site	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTTTACTTACCTCTGGAGCT	0.493																																						uc003xvj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.e5+1		Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.							119.0	125.0	123.0					8																	65517238		2203	4300	6503	SO:0001630	splice_region_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517238C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1233+1G>T	8.37:g.65517238C>A							p.E411_splice	NM_004820	NP_004811	O75881	CP7B1_HUMAN			5	1437	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	411					B2RN07|Q9UNF5	Splice_Site	SNP	ENST00000310193.3	37	c.1233_splice	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536615	0.45176	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP7B1	65679792	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	.		0.493	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		Intron
TRAPPC9	83696	broad.mit.edu	37	8	141461384	141461384	+	Missense_Mutation	SNP	T	T	C	rs561185313		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:141461384T>C	ENST00000438773.2	-	2	222	c.89A>G	c.(88-90)aAc>aGc	p.N30S	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.N128S|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.N30S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	30					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTGAAGAAGTTCTCCTCGGA	0.567													T|||	1	0.000199681	0.0	0.0	5008	,	,		22270	0.0		0.001	False		,,,				2504	0.0					uc003yvh.2																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(382-384)aAc>aGc		Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.							42.0	41.0	41.0					8																	141461384		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461384T>C	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.89A>G	8.37:g.141461384T>C	ENSP00000405060:p.Asn30Ser					TRAPPC9_uc003yvj.2_Missense_Mutation_p.N30S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	p.N128S	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN			1	398	-			30					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.383A>G	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	6.611	0.481162	0.12581	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.26	5.26	0.73747	.	0.148573	0.64402	D	0.000011	T	0.19406	0.0466	N	0.11106	0.095	0.29167	N	0.877362	B;B;B	0.18461	0.005;0.002;0.028	B;B;B	0.14578	0.011;0.009;0.01	T	0.20605	-1.0270	9	0.07175	T	0.84	.	7.9639	0.30087	0.0:0.1235:0.0:0.8765	.	30;30;128	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	S	128;30;30	.	ENSP00000373978:N30S	N	-	2	0	TRAPPC9	141530566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.374000	0.52402	1.975000	0.57531	0.528000	0.53228	AAC		0.567	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
ZNF696	79943	broad.mit.edu	37	8	144378380	144378380	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:144378380A>G	ENST00000330143.3	+	3	944	c.535A>G	c.(535-537)Agg>Ggg	p.R179G		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	179					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGCGGGGAGAGGCCCTACGC	0.697																																						uc003yxy.4																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(535-537)Agg>Ggg		Homo sapiens zinc finger protein 696 (ZNF696), mRNA.							20.0	15.0	17.0					8																	144378380		2194	4295	6489	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378380A>G	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.535A>G	8.37:g.144378380A>G	ENSP00000328515:p.Arg179Gly						p.R179G	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	944	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		179					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.535A>G	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233623	0.39498	.	.	ENSG00000185730	ENST00000518575;ENST00000330143	T;T	0.19938	2.11;2.11	2.31	-0.827	0.10802	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	L	0.52206	1.635	0.80722	D	1	D	0.52996	0.957	P	0.49192	0.602	T	0.06789	-1.0807	8	.	.	.	.	7.231	0.26043	0.5567:0.4433:0.0:0.0	.	179	Q9H7X3	ZN696_HUMAN	G	179	ENSP00000427857:R179G;ENSP00000328515:R179G	.	R	+	1	2	ZNF696	144449755	0.000000	0.05858	0.022000	0.16811	0.118000	0.20060	-2.082000	0.01365	-0.297000	0.08934	0.450000	0.29827	AGG		0.697	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895	
ARHGAP39	80728	broad.mit.edu	37	8	145806268	145806268	+	Silent	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:145806268C>G	ENST00000276826.5	-	2	675	c.474G>C	c.(472-474)cgG>cgC	p.R158R	ARHGAP39_ENST00000540274.1_Silent_p.R158R|ARHGAP39_ENST00000377307.2_Silent_p.R158R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	158					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCCGCGGGCCGCCCGGCCC	0.721																																						uc003zds.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(472-474)cgG>cgC		Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.							11.0	13.0	12.0					8																	145806268		2104	4124	6228	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806268C>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.474G>C	8.37:g.145806268C>G						ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zdt.1_Silent_p.R158R	p.R158R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			3	1029	-			158					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.474G>C																																																																																					0.721	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1		
ARID3C	138715	broad.mit.edu	37	9	34623425	34623425	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:34623425T>C	ENST00000378909.2	-	4	954	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	288	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTCGCACCTTTCTTAATAGGG	0.592																																						uc011lon.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(862-864)Aaa>Gaa		Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.							60.0	64.0	63.0					9																	34623425		2200	4295	6495	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623425T>C		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.862A>G	9.37:g.34623425T>C	ENSP00000368189:p.Lys288Glu					DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	p.K288E	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	3	862	-	all_epithelial(49;0.102)		288			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.862A>G	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404966	0.62288	.	.	ENSG00000205143	ENST00000378909	T	0.47528	0.84	5.09	3.93	0.45458	.	0.303220	0.24056	N	0.041950	T	0.61664	0.2365	M	0.73598	2.24	0.31131	N	0.707769	D	0.63880	0.993	P	0.62298	0.9	T	0.65421	-0.6172	10	0.51188	T	0.08	.	9.0646	0.36455	0.0:0.086:0.0:0.914	.	288	A6NKF2	ARI3C_HUMAN	E	288	ENSP00000368189:K288E	ENSP00000368189:K288E	K	-	1	0	ARID3C	34613425	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.574000	0.53863	1.911000	0.55334	0.368000	0.22195	AAA		0.592	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061	
SPATA31A6	389730	broad.mit.edu	37	9	43628658	43628658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:43628658G>A	ENST00000332857.6	-	3	312	c.284C>T	c.(283-285)tCg>tTg	p.S95L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	95					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAGAAGGTCCGAAGTCTCCTC	0.612																																						uc011lrb.2																			0				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						c.(283-285)tCg>tTg		Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.																																				SO:0001583	missense	389730					integral to membrane		g.chr9:43628658G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.284C>T	9.37:g.43628658G>A	ENSP00000329825:p.Ser95Leu						p.S95L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			2	313	-			95						Missense_Mutation	SNP	ENST00000332857.6	37	c.284C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.609414	0.00842	.	.	ENSG00000185775	ENST00000332857	T	0.03468	3.92	1.69	-3.38	0.04883	.	3.286340	0.00937	N	0.002794	T	0.01320	0.0043	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42732	-0.9434	10	0.25106	T	0.35	.	1.3825	0.02233	0.1598:0.1824:0.1589:0.499	.	95	Q5VVP1	F75A6_HUMAN	L	95	ENSP00000329825:S95L	ENSP00000329825:S95L	S	-	2	0	FAM75A6	43568654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.888000	0.00092	-2.257000	0.00695	-2.920000	0.00090	TCG		0.612	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
SLC28A3	64078	broad.mit.edu	37	9	86928326	86928326	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:86928326T>A	ENST00000376238.4	-	2	153	c.104A>T	c.(103-105)aAc>aTc	p.N35I	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	35					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCTTATTGAGTTGTTTCCTGA	0.418																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.3																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(103-105)aAc>aTc		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.							286.0	225.0	246.0					9																	86928326		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86928326T>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.104A>T	9.37:g.86928326T>A	ENSP00000365413:p.Asn35Ile					SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.3_5'UTR	p.N35I	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN			1	250	-			35					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.104A>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	8.997	0.979091	0.18812	.	.	ENSG00000197506	ENST00000376238	T	0.01613	4.73	3.31	1.02	0.19986	.	0.949940	0.08767	N	0.896855	T	0.01905	0.0060	L	0.40543	1.245	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.46803	-0.9165	10	0.38643	T	0.18	-2.4694	4.6915	0.12783	0.0:0.2728:0.0:0.7272	.	35	Q9HAS3	S28A3_HUMAN	I	35	ENSP00000365413:N35I	ENSP00000365413:N35I	N	-	2	0	SLC28A3	86118146	0.030000	0.19436	0.001000	0.08648	0.008000	0.06430	0.554000	0.23407	0.214000	0.20742	0.460000	0.39030	AAC		0.418	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
ROR2	4920	broad.mit.edu	37	9	94487296	94487296	+	Missense_Mutation	SNP	C	C	T	rs138310082	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:94487296C>T	ENST00000375708.3	-	9	1678	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	ROR2_ENST00000375715.1_Missense_Mutation_p.G354S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCAGGGCCGAACAGGTGA	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15866	0.0		0.0	False		,,,				2504	0.0					uc004arj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1480-1482)Ggc>Agc		Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.		C	SER/GLY	4,4402	8.1+/-20.4	0,4,2199	148.0	174.0	165.0		1480	4.5	0.4	9	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ROR2	NM_004560.3	56	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	494/944	94487296	5,13001	2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94487296C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1480G>A	9.37:g.94487296C>T	ENSP00000364860:p.Gly494Ser					ROR2_uc004ari.1_Missense_Mutation_p.G354S	p.G494S	NM_004560	NP_004551	Q01974	ROR2_HUMAN			8	1679	-			494			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1480G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063374	0.20067	9.08E-4	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.82803	-1.65;-1.65	4.47	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42964	D	0.000623	D	0.85102	0.5620	L	0.35723	1.085	0.80722	D	1	D;P	0.89917	1.0;0.944	D;B	0.87578	0.998;0.237	T	0.79220	-0.1893	10	0.06494	T	0.89	.	17.7014	0.88295	0.0:1.0:0.0:0.0	.	494;354	Q01974;B1APY4	ROR2_HUMAN;.	S	354;494	ENSP00000364867:G354S;ENSP00000364860:G494S	ENSP00000364860:G494S	G	-	1	0	ROR2	93527117	0.999000	0.42202	0.413000	0.26509	0.035000	0.12851	4.328000	0.59253	2.478000	0.83669	0.491000	0.48974	GGC		0.602	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
ZBTB34	403341	broad.mit.edu	37	9	129643102	129643102	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:129643102T>G	ENST00000373452.2	+	1	1476	c.1412T>G	c.(1411-1413)gTg>gGg	p.V471G	ZBTB34_ENST00000319119.4_Missense_Mutation_p.V475G			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATGTGTACGTGGAACAGAAA	0.507																																						uc022bnn.1																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(1411-1413)gTg>gGg		Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.							50.0	51.0	51.0					9																	129643102		2021	4192	6213	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129643102T>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.1412T>G	9.37:g.129643102T>G	ENSP00000362551:p.Val471Gly					ZBTB34_uc004bqm.4_Missense_Mutation_p.V471G	p.V471G	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			0	1412	+			471					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.1412T>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	T	2.190	-0.385594	0.04966	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.09350	2.99;2.99	5.63	0.45	0.16624	.	1.187540	0.05825	N	0.616407	T	0.07188	0.0182	N	0.19112	0.55	0.47094	D	0.999311	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	10	0.26408	T	0.33	.	5.8453	0.18663	0.0:0.2488:0.2406:0.5106	.	471	Q8NCN2	ZBT34_HUMAN	G	475;471	ENSP00000317534:V475G;ENSP00000362551:V471G	ENSP00000317534:V475G	V	+	2	0	ZBTB34	128682923	0.010000	0.17322	0.650000	0.29550	0.987000	0.75469	-0.030000	0.12308	0.080000	0.16959	0.459000	0.35465	GTG		0.507	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270	
PRDM12	59335	broad.mit.edu	37	9	133556658	133556658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:133556658G>A	ENST00000253008.2	+	5	766	c.706G>A	c.(706-708)Gcg>Acg	p.A236T		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	236					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCGGACTCGGCGGCTGGCCC	0.726																																						uc004bzt.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(706-708)Gcg>Acg		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							6.0	7.0	7.0					9																	133556658		1429	3221	4650	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133556658G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.706G>A	9.37:g.133556658G>A	ENSP00000253008:p.Ala236Thr						p.A236T	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	4	766	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	236					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.706G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387416	0.42308	.	.	ENSG00000130711	ENST00000253008	T	0.08807	3.05	4.31	4.31	0.51392	.	0.161004	0.40728	N	0.001025	T	0.07188	0.0182	L	0.39898	1.24	0.38069	D	0.936308	B	0.17038	0.02	B	0.14578	0.011	T	0.17623	-1.0363	10	0.10377	T	0.69	-32.2489	11.7762	0.51987	0.0:0.178:0.822:0.0	.	236	Q9H4Q4	PRD12_HUMAN	T	236	ENSP00000253008:A236T	ENSP00000253008:A236T	A	+	1	0	PRDM12	132546479	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.744000	0.55112	1.954000	0.56735	0.561000	0.74099	GCG		0.726	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	
ESX1	80712	broad.mit.edu	37	X	103495282	103495282	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:103495282G>A	ENST00000372588.4	-	4	931	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	283	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGCACAGGCGCCATGCGTGA	0.726																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.3																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(847-849)gCg>gTg		Homo sapiens ESX homeobox 1 (ESX1), mRNA.							33.0	35.0	34.0					X																	103495282		2202	4298	6500	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495282G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.848C>T	X.37:g.103495282G>A	ENSP00000361669:p.Ala283Val						p.A283V	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			3	917	-			283			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.848C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355408	0.11239	.	.	ENSG00000123576	ENST00000372588	T	0.75154	-0.91	2.0	-4.01	0.04045	.	.	.	.	.	T	0.56217	0.1970	L	0.42686	1.345	0.09310	N	1	B	0.24533	0.105	B	0.08055	0.003	T	0.33954	-0.9848	9	0.30078	T	0.28	.	2.7386	0.05247	0.4618:0.0:0.284:0.2542	.	283	Q8N693	ESX1_HUMAN	V	283	ENSP00000361669:A283V	ENSP00000361669:A283V	A	-	2	0	ESX1	103381938	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	1.102000	0.31050	-1.114000	0.02977	0.372000	0.22366	GCG		0.726	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
GPC3	2719	broad.mit.edu	37	X	133087081	133087081	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:133087081G>C	ENST00000370818.3	-	2	778	c.333C>G	c.(331-333)ttC>ttG	p.F111L	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.F111L	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	111					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTCACCTTGGAAAACCGCAG	0.373			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc010nrn.2			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(331-333)ttC>ttG		Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.							166.0	154.0	158.0					X																	133087081		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087081G>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.333C>G	X.37:g.133087081G>C	ENSP00000359854:p.Phe111Leu					GPC3_uc004exe.2_Missense_Mutation_p.F111L|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	p.F111L	NM_001164617	NP_001158089	P51654	GPC3_HUMAN			1	530	-	Acute lymphoblastic leukemia(192;0.000127)		111					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.333C>G	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680333	0.47886	.	.	ENSG00000147257	ENST00000370818;ENST00000394299	T;T	0.62788	0.0;0.0	5.5	2.72	0.32119	.	0.268842	0.39544	N	0.001334	T	0.61974	0.2390	M	0.67397	2.05	0.80722	D	1	B;P	0.44946	0.184;0.846	B;P	0.47786	0.17;0.557	T	0.60885	-0.7174	10	0.72032	D	0.01	.	5.3383	0.15969	0.2317:0.0:0.6277:0.1406	.	111;111	C9JLE3;P51654	.;GPC3_HUMAN	L	111	ENSP00000359854:F111L;ENSP00000377836:F111L	ENSP00000359854:F111L	F	-	3	2	GPC3	132914747	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.293000	0.51779	0.492000	0.27815	0.506000	0.49869	TTC		0.373	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	
NLGN4Y	22829	broad.mit.edu	37	Y	16952864	16952864	+	3'UTR	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrY:16952864C>G	ENST00000476359.1	+	0	2718							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CACTCACATCCAGAACGAAGA	0.547																																						uc011nas.1																			0				large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						c.(2233-2235)Cag>Gag		Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.																																				SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16952864C>G		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2715C>G	Y.37:g.16952864C>G						NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc004ftg.2_Missense_Mutation_p.Q725E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	p.Q745E	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN			6	2412	+			725					F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.2233C>G																																																																																					0.547	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893	
