#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
FLG	2312	broad.mit.edu	37	1	152280065	152280065	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:152280065T>C	ENST00000368799.1	-	3	7332	c.7297A>G	c.(7297-7299)Acc>Gcc	p.T2433A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2433	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTGCTGGTCCCGGTCCGT	0.597									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7297-7299)Acc>Gcc		Homo sapiens filaggrin (FLG), mRNA.							269.0	247.0	254.0					1																	152280065		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280065T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7297A>G	1.37:g.152280065T>C	ENSP00000357789:p.Thr2433Ala						p.T2433A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	7333	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2433			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7297A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	t	8.399	0.841621	0.16963	.	.	ENSG00000143631	ENST00000368799	T	0.01584	4.75	4.17	-3.5	0.04710	.	.	.	.	.	T	0.00412	0.0013	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.48854	-0.8998	9	0.08837	T	0.75	.	0.8295	0.01127	0.3025:0.3256:0.2113:0.1606	.	2433	P20930	FILA_HUMAN	A	2433	ENSP00000357789:T2433A	ENSP00000357789:T2433A	T	-	1	0	FLG	150546689	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.568000	0.05909	-0.452000	0.07087	-1.256000	0.01477	ACC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
HMCN1	83872	broad.mit.edu	37	1	186057366	186057366	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:186057366C>T	ENST00000271588.4	+	62	9764	c.9535C>T	c.(9535-9537)Cca>Tca	p.P3179S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3179S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3179	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTGGGATCCCACCTCCCAC	0.438																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9535-9537)Cca>Tca		Homo sapiens hemicentin 1 (HMCN1), mRNA.							97.0	85.0	89.0					1																	186057366		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057366C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9535C>T	1.37:g.186057366C>T	ENSP00000271588:p.Pro3179Ser					MIR548F1_uc021pgf.1_Intron	p.P3179S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			61	9764	+			3179			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9535C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220730	0.95139	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80393	-1.37;-1.37	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94161	0.7414	10	0.54805	T	0.06	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	3179	Q96RW7	HMCN1_HUMAN	S	3179	ENSP00000271588:P3179S;ENSP00000356462:P3179S	ENSP00000271588:P3179S	P	+	1	0	HMCN1	184323989	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.710000	0.84655	2.644000	0.89710	0.563000	0.77884	CCA		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PTEN	5728	broad.mit.edu	37	10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	rs121913294		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:89711900G>A	ENST00000371953.3	+	6	1875	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.R173H(23)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R173P(1)|p.R172fs*5(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)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	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	R173H(RL952_ENDOMETRIUM)	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"""		80	Whole gene deletion(37)|Substitution - Missense(24)|Deletion - Frameshift(11)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)	central_nervous_system(32)|prostate(17)|skin(8)|endometrium(5)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|testis(1)|soft_tissue(1)|urinary_tract(1)|kidney(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	GRCh37	CM074465	PTEN	M	rs121913294	c.(517-519)cGc>cAc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							129.0	132.0	131.0					10																	89711900		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.chr10:89711900G>A	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.518G>A	10.37:g.89711900G>A	ENSP00000361021:p.Arg173His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R173H	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)	5	1550	+		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)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.518G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478054	0.96291	.	.	ENSG00000171862	ENST00000371953	D	0.98889	-5.21	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99162	0.9710	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.99533	1.0961	9	.	.	.	0.9169	19.9308	0.97118	0.0:0.0:1.0:0.0	.	173	P60484	PTEN_HUMAN	H	173	ENSP00000361021:R173H	.	R	+	2	0	PTEN	89701880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)																														uc001ktg.1																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1090-1092)cGc>cAc	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	89.0		1091,815,1091	1.1	0.7	10	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense,missense	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	364/576,272/484,364/576	103342623	1,13005	2203	4300	6503	SO:0001583	missense	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103342623C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1091G>A	10.37:g.103342623C>T	ENSP00000359181:p.Arg364His					DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001ktj.2_Missense_Mutation_p.R364H|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R272H|POLL_uc001kti.2_Missense_Mutation_p.R364H|POLL_uc001ktl.3_Missense_Mutation_p.R276H|POLL_uc001ktm.3_Missense_Mutation_p.R364H|POLL_uc010qqc.2_Missense_Mutation_p.R56H|POLL_uc010qqa.2_Missense_Mutation_p.R103H	p.R364H	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	5	1857	-		Colorectal(252;0.234)	364					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	c.1091G>A	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259113	0.59321	2.27E-4	0.0	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.61	1.09	0.20402	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.162814	0.56097	N	0.000024	T	0.67683	0.2919	M	0.89840	3.065	0.80722	D	1	P;D;D;D;D;D	0.76494	0.929;0.981;0.996;0.998;0.999;0.959	B;B;P;P;P;B	0.60949	0.388;0.42;0.727;0.605;0.881;0.42	T	0.73726	-0.3892	10	0.72032	D	0.01	-29.7121	11.8579	0.52449	0.0:0.7193:0.0:0.2807	.	87;101;89;364;272;37	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	H	364;364;364;87;276;37;364;89;364;101;272;87	ENSP00000299206:R364H;ENSP00000359188:R364H;ENSP00000343102:R87H;ENSP00000359191:R276H;ENSP00000359187:R37H;ENSP00000359181:R364H;ENSP00000359177:R89H;ENSP00000390810:R101H;ENSP00000400676:R272H;ENSP00000406791:R87H	ENSP00000299206:R364H	R	-	2	0	POLL	103332613	1.000000	0.71417	0.691000	0.30163	0.953000	0.61014	1.076000	0.30729	0.307000	0.22880	0.555000	0.69702	CGC		0.552	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274	
CCDC172	374355	broad.mit.edu	37	10	118084588	118084588	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:118084588G>A	ENST00000333254.3	+	2	316	c.65G>A	c.(64-66)cGt>cAt	p.R22H	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	22								p.R22H(1)									GAGAGTCGCCGTTTGATGCGA	0.557																																						uc001lck.3																			1	Substitution - Missense(1)	p.R22H(2)	large_intestine(1)	kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18						c.(64-66)cGt>cAt		Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.							129.0	135.0	133.0					10																	118084588		2203	4300	6503	SO:0001583	missense	374355							g.chr10:118084588G>A	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.65G>A	10.37:g.118084588G>A	ENSP00000329860:p.Arg22His						p.R22H	NM_198515	NP_940917	P0C7W6	CJ096_HUMAN		all cancers(201;0.014)	1	316	+		Lung NSC(174;0.204)|all_lung(145;0.248)	22						Missense_Mutation	SNP	ENST00000333254.3	37	c.65G>A	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292799	0.40594	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	4.51	0.55191	.	0.304896	0.28847	N	0.013958	T	0.46833	0.1413	M	0.72118	2.19	0.27722	N	0.94508	B	0.25169	0.119	B	0.23574	0.047	T	0.50474	-0.8824	9	0.72032	D	0.01	-9.5535	10.2069	0.43118	0.0918:0.0:0.9082:0.0	.	22	P0C7W6	CJ096_HUMAN	H	22	.	ENSP00000329860:R22H	R	+	2	0	C10orf96	118074578	0.914000	0.31030	0.043000	0.18650	0.079000	0.17450	3.570000	0.53834	1.271000	0.44313	0.655000	0.94253	CGT		0.557	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
LPXN	9404	broad.mit.edu	37	11	58318640	58318640	+	Silent	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:58318640C>T	ENST00000395074.2	-	5	472	c.384G>A	c.(382-384)ctG>ctA	p.L128L	LPXN_ENST00000528954.1_Silent_p.L133L|LPXN_ENST00000528489.1_Silent_p.L108L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	128					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCATTGAGTCCAGGGAGGCCT	0.557																																						uc001nmw.3																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(382-384)ctG>ctA		Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.							103.0	83.0	90.0					11																	58318640		2201	4295	6496	SO:0001819	synonymous_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58318640C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.384G>A	11.37:g.58318640C>T						LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.L133L|LPXN_uc010rkk.2_Silent_p.L108L|LPXN_uc010rkl.2_Non-coding_Transcript	p.L128L	NM_004811	NP_004802	O60711	LPXN_HUMAN			4	529	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	128					B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	ENST00000395074.2	37	c.384G>A	CCDS7969.1																																																																																				0.557	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811	
AHNAK	79026	broad.mit.edu	37	11	62296010	62296010	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:62296010A>G	ENST00000378024.4	-	5	6153	c.5879T>C	c.(5878-5880)gTg>gCg	p.V1960A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1960					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)	p.V1960A(1)		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)				AACATCAGGCACCTCCACACC	0.507																																						uc001ntl.3																			1	Substitution - Missense(1)	p.V1960A(2)	large_intestine(1)	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.(5878-5880)gTg>gCg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							191.0	201.0	197.0					11																	62296010		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296010A>G	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.5879T>C	11.37:g.62296010A>G	ENSP00000367263:p.Val1960Ala					AHNAK_uc001ntk.1_Intron	p.V1960A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	6179	-		Melanoma(852;0.155)	1960					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5879T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.339541	0.00017	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00840	5.63	3.2	-5.97	0.02227	.	.	.	.	.	T	0.00496	0.0016	N	0.11789	0.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46721	-0.9171	9	0.02654	T	1	.	6.5769	0.22571	0.2874:0.3589:0.3537:0.0	.	1960	Q09666	AHNK_HUMAN	A	49;1960	ENSP00000367263:V1960A	ENSP00000244934:V49A	V	-	2	0	AHNAK	62052586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.507000	0.00448	-0.951000	0.03654	-1.436000	0.01078	GTG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
C11orf65	160140	broad.mit.edu	37	11	108302505	108302505	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:108302505G>A	ENST00000529391.1	-	2	151	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.R48C			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACTATCTGACGTGGTTCTCCT	0.299																																						uc001pkh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(142-144)Cgt>Tgt		Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.							177.0	181.0	179.0					11																	108302505		2201	4295	6496	SO:0001583	missense	160140							g.chr11:108302505G>A	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.142C>T	11.37:g.108302505G>A	ENSP00000436400:p.Arg48Cys					C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	p.R48C	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	212	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	48					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.142C>T	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981569	0.53827	.	.	ENSG00000166323	ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.34275	1.37;1.37;1.37	5.73	4.82	0.62117	.	0.231873	0.35970	N	0.002878	T	0.36276	0.0961	M	0.64404	1.975	0.44976	D	0.997993	B	0.18610	0.029	B	0.16722	0.016	T	0.24941	-1.0146	10	0.72032	D	0.01	-2.4624	10.6225	0.45489	0.088:0.0:0.912:0.0	.	48	Q8NCR3	CK065_HUMAN	C	48	ENSP00000436400:R48C;ENSP00000376799:R48C;ENSP00000434500:R48C	ENSP00000376799:R48C	R	-	1	0	C11orf65	107807715	0.622000	0.27085	0.981000	0.43875	0.382000	0.30200	3.196000	0.51020	1.442000	0.47568	0.650000	0.86243	CGT		0.299	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587	
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:124180280C>T	ENST00000357821.2	-	1	453	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(382-384)aGc>aAc		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							84.0	74.0	77.0					11																	124180280		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180280C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.383G>A	11.37:g.124180280C>T	ENSP00000350474:p.Ser128Asn						p.S128N	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	383	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	128					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.383G>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	0.350	-0.945224	0.02304	.	.	ENSG00000196341	ENST00000357821	T	0.00481	7.11	4.07	-4.71	0.03279	GPCR, rhodopsin-like superfamily (1);	0.637592	0.12880	U	0.431525	T	0.00109	0.0003	N	0.00566	-1.37	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35176	-0.9799	10	0.02654	T	1	.	2.6152	0.04902	0.1209:0.1369:0.2403:0.5018	.	128	Q8WZ84	OR8D1_HUMAN	N	128	ENSP00000350474:S128N	ENSP00000350474:S128N	S	-	2	0	OR8D1	123685490	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.052000	0.11865	-0.893000	0.03930	-0.363000	0.07495	AGC		0.498	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917	
ZBTB39	9880	broad.mit.edu	37	12	57396726	57396726	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:57396726A>G	ENST00000300101.2	-	2	2061	c.1976T>C	c.(1975-1977)cTc>cCc	p.L659P		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCGGTACATGAGGGCCCCCGA	0.557																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1975-1977)cTc>cCc		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							142.0	109.0	120.0					12																	57396726		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396726A>G	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1976T>C	12.37:g.57396726A>G	ENSP00000300101:p.Leu659Pro					ZBTB39_uc021qzg.1_Missense_Mutation_p.L659P	p.L659P	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	2129	-			659					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1976T>C	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110784	0.56398	.	.	ENSG00000166860	ENST00000300101	T	0.15139	2.45	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06499	-1.0823	10	0.66056	D	0.02	-18.3326	13.4556	0.61197	1.0:0.0:0.0:0.0	.	659	O15060	ZBT39_HUMAN	P	659	ENSP00000300101:L659P	ENSP00000300101:L659P	L	-	2	0	ZBTB39	55682993	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.113000	0.71553	2.062000	0.61559	0.533000	0.62120	CTC		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
CUX2	23316	broad.mit.edu	37	12	111748209	111748209	+	Silent	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:111748209C>T	ENST00000261726.6	+	15	1777	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	541					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGGTGGGGGCGGAGCGGCGG	0.721																																						uc001tsa.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1621-1623)ggC>ggT		Homo sapiens cut-like homeobox 2 (CUX2), mRNA.							11.0	14.0	13.0					12																	111748209		1761	3873	5634	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748209C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1623C>T	12.37:g.111748209C>T							p.G541G	NM_015267	NP_056082	O14529	CUX2_HUMAN			14	1777	+			541					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1623C>T	CCDS41837.1																																																																																				0.721	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
RIMBP2	23504	broad.mit.edu	37	12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:130898833C>T	ENST00000261655.4	-	14	2652	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	830					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572																																						uc001uil.2																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2488-2490)cGc>cAc		Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.							60.0	68.0	65.0					12																	130898833		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130898833C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2489G>A	12.37:g.130898833C>T	ENSP00000261655:p.Arg830His						p.R830H	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	13	2705	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	830					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2489G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	9.777	1.174325	0.21704	.	.	ENSG00000060709	ENST00000261655	T	0.21191	2.02	4.49	1.61	0.23674	.	0.463790	0.20860	N	0.084374	T	0.09247	0.0228	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.26121	-1.0112	10	0.16420	T	0.52	-7.1662	8.0071	0.30332	0.0:0.5343:0.0:0.4657	.	830	O15034	RIMB2_HUMAN	H	830	ENSP00000261655:R830H	ENSP00000261655:R830H	R	-	2	0	RIMBP2	129464786	0.011000	0.17503	0.469000	0.27204	0.517000	0.34286	0.136000	0.15974	0.093000	0.17368	0.650000	0.86243	CGC		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
NID2	22795	broad.mit.edu	37	14	52507433	52507433	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:52507433G>A	ENST00000216286.5	-	8	1961	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y	NID2_ENST00000541773.1_Silent_p.Y601Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	654	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTGCTGAGACGTAAGGCACCT	0.498																																						uc001wzo.3																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1960-1962)taC>taT		Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.							325.0	274.0	291.0					14																	52507433		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52507433G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1962C>T	14.37:g.52507433G>A						NID2_uc010tqs.2_Silent_p.Y654Y|NID2_uc010tqt.1_Silent_p.Y654Y|NID2_uc001wzp.3_Silent_p.Y654Y	p.Y654Y	NM_007361	NP_031387	Q14112	NID2_HUMAN			7	2196	-	Breast(41;0.0639)|all_epithelial(31;0.123)		654			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.1962C>T	CCDS9706.1																																																																																				0.498	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
RBM25	58517	broad.mit.edu	37	14	73578303	73578303	+	Silent	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:73578303T>C	ENST00000261973.7	+	16	2370	c.2085T>C	c.(2083-2085)ttT>ttC	p.F695F	RBM25_ENST00000527432.1_Silent_p.F695F|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	695					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAGTGTCTTTAACAAATTTG	0.403																																						uc010ttu.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2083-2085)ttT>ttC		Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.							105.0	103.0	104.0					14																	73578303		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578303T>C	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2085T>C	14.37:g.73578303T>C						RBM25_uc001xno.3_Silent_p.F695F|RBM25_uc001xnp.3_Silent_p.F490F	p.F695F	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	16	2361	+			695					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2085T>C	CCDS32113.1																																																																																				0.403	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
ADAM10	102	broad.mit.edu	37	15	58904096	58904096	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:58904096A>C	ENST00000260408.3	-	12	2049	c.1606T>G	c.(1606-1608)Tgt>Ggt	p.C536G	ADAM10_ENST00000396140.2_Missense_Mutation_p.C235G|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	536	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AAGCCATTACATATTCCTTCC	0.448																																						uc002afd.1																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1606-1608)Tgt>Ggt		Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.							162.0	128.0	139.0					15																	58904096		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58904096A>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1606T>G	15.37:g.58904096A>C	ENSP00000260408:p.Cys536Gly					ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.C235G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C73G	p.C536G	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	11	2050	-			536			Disintegrin.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1606T>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403694	0.62288	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.64438	-0.1;-0.1	5.92	5.92	0.95590	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	H	0.98996	4.395	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	0.92825	0.6275	10	0.87932	D	0	-19.2504	16.3678	0.83341	1.0:0.0:0.0:0.0	.	235;355;536	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	G	536;355;235	ENSP00000260408:C536G;ENSP00000379444:C235G	ENSP00000260408:C536G	C	-	1	0	ADAM10	56691388	1.000000	0.71417	0.901000	0.35422	0.202000	0.24057	8.962000	0.93254	2.254000	0.74563	0.528000	0.53228	TGT		0.448	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	RNA	SNP	C	C	T	rs74969461	byFrequency	TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:102515257C>T	ENST00000557932.1	+	0	1103				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647																																						uc002cdi.3																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(481-483)Cgg>Tgg		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515257C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515257C>T						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.R161W							8	1901	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.481C>T		.	.	.	.	.	.	.	.	.	.	N	0.940	-0.709821	0.03230	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.058881	0.64402	N	0.000002	T	0.35508	0.0934	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32719	-0.9896	4	.	.	.	-10.605	4.2952	0.10897	0.3925:0.6075:0.0:0.0	.	.	.	.	W	369;360	.	.	R	+	1	2	WASH3P	100332780	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.970000	0.49240	0.863000	0.35553	0.184000	0.17185	CGG		0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
SNX29	92017	broad.mit.edu	37	16	12220512	12220512	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:12220512G>A	ENST00000566228.1	+	12	1494	c.1425G>A	c.(1423-1425)gtG>gtA	p.V475V	SNX29_ENST00000306030.3_Silent_p.V90V|SNX29_ENST00000323433.4_Silent_p.V90V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	475						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGCCACTGTGGCCATGATGA	0.488																																						uc002dby.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(268-270)gtG>gtA		Homo sapiens sorting nexin 29 (SNX29), mRNA.							127.0	128.0	128.0					16																	12220512		2010	4182	6192	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12220512G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1425G>A	16.37:g.12220512G>A						SNX29_uc010uyx.1_Silent_p.V117V	p.V90V	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN			11	1487	+			90					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.270G>A	CCDS10553.2																																																																																				0.488	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
GTF3C1	2975	broad.mit.edu	37	16	27480738	27480738	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:27480738C>T	ENST00000356183.4	-	32	4963	c.4948G>A	c.(4948-4950)Ggc>Agc	p.G1650S	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1650S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1650					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGTAGTAGCCCCTCATCAGC	0.602																																						uc002dov.2																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4948-4950)Ggc>Agc		Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.							151.0	115.0	127.0					16																	27480738		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480738C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4948G>A	16.37:g.27480738C>T	ENSP00000348510:p.Gly1650Ser					GTF3C1_uc002dou.3_Missense_Mutation_p.G1650S	p.G1650S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			31	4988	-			1650					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4948G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395837	0.96009	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.37752	1.18	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	M	0.77616	2.38	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.97110	0.988;1.0	T	0.67921	-0.5545	10	0.66056	D	0.02	-13.7291	16.7036	0.85366	0.0:1.0:0.0:0.0	.	1650;1650	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1650;1646	ENSP00000348510:G1650S	ENSP00000348510:G1650S	G	-	1	0	GTF3C1	27388239	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.114000	0.77103	2.266000	0.75297	0.491000	0.48974	GGC		0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	134	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637																																						uc002hwb.3																			2	Substitution - Missense(2)	p.S134Y(4)	lung(1)|central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(400-402)tCt>tAt		Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.							22.0	21.0	22.0					17																	39305619		2194	4283	6477	SO:0001583	missense	85289					keratin filament		g.chr17:39305619G>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.401C>A	17.37:g.39305619G>T	ENSP00000340546:p.Ser134Tyr						p.S134Y	NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	436	-		Breast(137;0.000496)	139			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.401C>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.535	0.659572	0.14645	.	.	ENSG00000198271	ENST00000343246	T	0.01446	4.88	3.31	-2.73	0.05950	.	0.818375	0.09819	U	0.751710	T	0.08626	0.0214	M	0.94021	3.485	0.09310	N	1	P	0.48998	0.918	P	0.49853	0.624	T	0.17531	-1.0366	10	0.52906	T	0.07	.	14.3902	0.66973	0.0:0.5611:0.4389:0.0	.	139	Q9BYR2	KRA45_HUMAN	Y	134	ENSP00000340546:S134Y	ENSP00000340546:S134Y	S	-	2	0	KRTAP4-5	36559145	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.079000	0.03410	-0.156000	0.11079	0.563000	0.77884	TCT		0.637	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1		
CTAGE1	64693	broad.mit.edu	37	18	19997766	19997766	+	5'Flank	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:19997766G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.P3P			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.P3P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAGAATCGGGTCTCATAC	0.507																																						uc002ktv.1																			1	Substitution - coding silent(1)	p.P3P(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(7-9)ccC>ccT		Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							75.0	67.0	70.0					18																	19997766		2203	4300	6503	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997766G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997766G>A	Exception_encountered						p.P3P	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			0	113	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		3					B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.9C>T																																																																																					0.507	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
SERPINB3	6317	broad.mit.edu	37	18	61325755	61325755	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:61325755T>A	ENST00000283752.5	-	5	604	c.461A>T	c.(460-462)cAa>cTa	p.Q154L	SERPINB3_ENST00000332821.8_Missense_Mutation_p.Q154L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	154					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCATTCGTTTGACTTTCCAC	0.448																																						uc002lji.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(460-462)cAa>cTa		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.							106.0	95.0	98.0					18																	61325755		2203	4298	6501	SO:0001583	missense	6318				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61325755T>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.461A>T	18.37:g.61325755T>A	ENSP00000283752:p.Gln154Leu					SERPINB3_uc002ljg.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqa.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqb.3_3'UTR	p.Q154L	NM_006919	NP_008850	P29508	SPB3_HUMAN			4	605	-			154					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.461A>T	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118833	0.56505	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.85702	-2.02;-2.02	2.97	2.97	0.34412	Serpin domain (3);	0.000000	0.37348	N	0.002130	D	0.91389	0.7283	M	0.85542	2.76	0.38851	D	0.956272	D;D;D	0.69078	0.997;0.997;0.997	D;P;P	0.66979	0.948;0.891;0.891	D	0.92843	0.6290	10	0.87932	D	0	.	11.271	0.49138	0.0:0.0:0.0:1.0	.	154;154;154	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	L	154	ENSP00000283752:Q154L;ENSP00000329498:Q154L	ENSP00000283752:Q154L	Q	-	2	0	SERPINB3	59476735	1.000000	0.71417	0.374000	0.26016	0.614000	0.37383	4.628000	0.61282	1.615000	0.50252	0.374000	0.22700	CAA		0.448	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
OR7A5	26659	broad.mit.edu	37	19	14938368	14938368	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:14938368G>A	ENST00000322301.3	-	2	773	c.686C>T	c.(685-687)tCa>tTa	p.S229L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.S229L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	229					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CTGAGCTGATGAGATTGCATG	0.448																																						uc002mzw.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(685-687)tCa>tTa		Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.							82.0	73.0	76.0					19																	14938368		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938368G>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.686C>T	19.37:g.14938368G>A	ENSP00000316955:p.Ser229Leu					OR7A5_uc010xoa.2_Missense_Mutation_p.S229L	p.S229L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			0	909	-			229					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.686C>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.550147	0.45383	.	.	ENSG00000188269	ENST00000322301	T	0.39229	1.09	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.51702	0.1690	M	0.83118	2.625	0.09310	N	1	B	0.30563	0.285	B	0.40477	0.33	T	0.53019	-0.8497	9	0.72032	D	0.01	.	7.8129	0.29241	0.0:0.0:0.7516:0.2483	.	229	Q15622	OR7A5_HUMAN	L	229	ENSP00000316955:S229L	ENSP00000316955:S229L	S	-	2	0	OR7A5	14799368	0.000000	0.05858	0.020000	0.16555	0.254000	0.26022	-0.609000	0.05635	1.803000	0.52742	0.121000	0.15741	TCA		0.448	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506	
HIPK4	147746	broad.mit.edu	37	19	40890043	40890043	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:40890043T>C	ENST00000291823.2	-	2	753	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCGAAGTCAATCACCTGTCGG	0.627																																						uc002onp.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(469-471)Att>Gtt		Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.							47.0	50.0	49.0					19																	40890043		2203	4299	6502	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40890043T>C	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.469A>G	19.37:g.40890043T>C	ENSP00000291823:p.Ile157Val						p.I157V	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	754	-			157			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.469A>G	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464236	0.43736	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.21543	2.0	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	T	0.34658	0.0905	L	0.60957	1.885	0.33177	D	0.549094	P	0.47409	0.895	P	0.54100	0.742	T	0.49380	-0.8946	10	0.45353	T	0.12	.	12.6085	0.56538	0.0:0.0:0.0:1.0	.	157	Q8NE63	HIPK4_HUMAN	V	157;122	ENSP00000291823:I157V	ENSP00000291823:I157V	I	-	1	0	HIPK4	45581883	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	2.939000	0.48995	2.234000	0.73211	0.460000	0.39030	ATT		0.627	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685	
SPTBN4	57731	broad.mit.edu	37	19	41060491	41060491	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:41060491G>A	ENST00000352632.3	+	24	5109	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	SPTBN4_ENST00000392023.1_Missense_Mutation_p.E351K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1675K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1675K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1675K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E418K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1675					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAACTACGAGGAAAGCATCGC	0.662																																						uc002ony.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5023-5025)Gaa>Aaa		Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.							20.0	19.0	19.0					19																	41060491		2196	4294	6490	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41060491G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5023G>A	19.37:g.41060491G>A	ENSP00000263373:p.Glu1675Lys					SPTBN4_uc002onx.3_Missense_Mutation_p.E1675K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1675K|SPTBN4_uc010egx.3_Missense_Mutation_p.E418K|SPTBN4_uc010egy.1_Missense_Mutation_p.E351K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E351K	p.E1675K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		23	5109	+			1675					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5023G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694885	0.68386	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000005	T	0.50718	0.1632	L	0.45352	1.415	0.47341	D	0.999392	D;D;B;D;D	0.76494	0.99;0.99;0.313;0.999;0.975	P;P;B;D;P	0.74348	0.843;0.87;0.124;0.983;0.876	T	0.42189	-0.9466	10	0.30078	T	0.28	.	16.2547	0.82505	0.0:0.0:1.0:0.0	.	418;418;351;1675;1675	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	K	1675;1675;1675;418;351	ENSP00000263373:E1675K;ENSP00000340345:E1675K;ENSP00000375879:E418K;ENSP00000375877:E351K	ENSP00000340345:E1675K	E	+	1	0	SPTBN4	45752331	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.632000	0.61311	2.121000	0.65114	0.313000	0.20887	GAA		0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
KLK13	26085	broad.mit.edu	37	19	51563780	51563780	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:51563780T>C	ENST00000595793.1	-	2	191	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	KLK13_ENST00000595547.1_Missense_Mutation_p.Q50R|KLK13_ENST00000596955.1_Missense_Mutation_p.Q50R|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	50	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TAGGGCAGCCTGCCAGGGCTG	0.602																																						uc002pvn.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(148-150)cAg>cGg		Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.							84.0	87.0	86.0					19																	51563780		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563780T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.149A>G	19.37:g.51563780T>C	ENSP00000470555:p.Gln50Arg					KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.Q50R|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.Q50R	p.Q50R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	1	192	-		all_neural(266;0.026)	50			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.149A>G	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.026139	0.75390	.	.	ENSG00000167759	ENST00000156476	D	0.90620	-2.7	3.88	3.88	0.44766	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44902	D	0.000402	D	0.96386	0.8821	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	D	0.96728	0.9537	10	0.87932	D	0	.	10.9303	0.47213	0.0:0.0:0.0:1.0	.	50;50;50	Q86VI7;B5BUM9;Q9UKR3	.;.;KLK13_HUMAN	R	50	ENSP00000156476:Q50R	ENSP00000156476:Q50R	Q	-	2	0	KLK13	56255592	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.797000	0.69087	1.756000	0.51951	0.496000	0.49642	CAG		0.602	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596	
NLRP4	147945	broad.mit.edu	37	19	56372800	56372800	+	Silent	SNP	C	C	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:56372800C>A	ENST00000301295.6	+	4	2327	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	NLRP4_ENST00000587891.1_Silent_p.T560T|NLRP4_ENST00000346986.5_Silent_p.T635T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	635					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTGCTCACCACCAGCGGGC	0.592																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1903-1905)acC>acA		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							115.0	92.0	100.0					19																	56372800		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56372800C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1905C>A	19.37:g.56372800C>A						NLRP4_uc002qmf.3_Silent_p.T560T|NLRP4_uc010etf.3_Silent_p.T466T	p.T635T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2327	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	635					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1905C>A	CCDS12936.1																																																																																				0.592	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
LRPPRC	10128	broad.mit.edu	37	2	44203309	44203309	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:44203309G>A	ENST00000260665.7	-	6	767	c.710C>T	c.(709-711)gCc>gTc	p.A237V	LRPPRC_ENST00000409946.1_Missense_Mutation_p.A237V|LRPPRC_ENST00000409659.1_Missense_Mutation_p.A237V	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	237					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCACAAGGGCACTGAATAC	0.398																																						uc002rtr.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(709-711)gCc>gTc		Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.							84.0	81.0	82.0					2																	44203309		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44203309G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.710C>T	2.37:g.44203309G>A	ENSP00000260665:p.Ala237Val					LRPPRC_uc010yob.1_Missense_Mutation_p.A137V|LRPPRC_uc010faw.1_Missense_Mutation_p.A211V	p.A237V	NM_133259	NP_573566	P42704	LPPRC_HUMAN			5	768	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	237					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.710C>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837396	0.50951	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.67345	0.35;0.3;0.31;-0.26	5.29	5.29	0.74685	.	0.363251	0.31268	N	0.007958	T	0.58836	0.2150	L	0.27053	0.805	0.35950	D	0.833853	B;B;P	0.36683	0.433;0.143;0.565	B;B;B	0.42625	0.318;0.219;0.393	T	0.63010	-0.6732	10	0.21014	T	0.42	-10.141	15.5457	0.76097	0.0:0.1479:0.8521:0.0	.	137;211;237	F5H4J6;C9JCA9;P42704	.;.;LPPRC_HUMAN	V	137;237;237;237;211	ENSP00000260665:A237V;ENSP00000386234:A237V;ENSP00000386562:A237V;ENSP00000403637:A211V	ENSP00000260665:A237V	A	-	2	0	LRPPRC	44056813	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	6.528000	0.73807	2.452000	0.82932	0.650000	0.86243	GCC		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
TTN	7273	broad.mit.edu	37	2	179633437	179633437	+	Silent	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:179633437A>G	ENST00000591111.1	-	38	9350	c.9126T>C	c.(9124-9126)gcT>gcC	p.A3042A	TTN_ENST00000589042.1_Silent_p.A3042A|TTN_ENST00000342992.6_Silent_p.A3042A|TTN_ENST00000460472.2_Silent_p.A2996A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A2996A|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Silent_p.A3042A|TTN_ENST00000359218.5_Silent_p.A2996A			Q8WZ42	TITIN_HUMAN	titin	13374	Ig-like 17.				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)			TTGCTTTTCCAGCCACAAAGG	0.388																																						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.(9124-9126)gcT>gcC		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							95.0	85.0	88.0					2																	179633437		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633437A>G	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.9126T>C	2.37:g.179633437A>G						TTN_uc021vsz.1_Silent_p.A2996A|TTN_uc021vta.1_Silent_p.A2996A|TTN_uc021vtb.1_Silent_p.A2996A|TTN_uc002unb.2_Silent_p.A3042A	p.A3042A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9351	-			3042			Ig-like 17.		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.9126T>C																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MUC4	4585	broad.mit.edu	37	3	195516052	195516052	+	Missense_Mutation	SNP	G	G	A	rs142259629	byFrequency	TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr3:195516052G>A	ENST00000463781.3	-	2	2858	c.2399C>T	c.(2398-2400)gCg>gTg	p.A800V	MUC4_ENST00000475231.1_Missense_Mutation_p.A800V|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	805	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTGTGCCCGCTGAGGTGGT	0.587													.|||	4	0.000798722	0.0	0.0	5008	,	,		18898	0.004		0.0	False		,,,				2504	0.0					uc021xjp.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2398-2400)gCg>gTg		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.			,,VAL/ALA	0,4360		0,0,2180	101.0	113.0	109.0		,,2399	-3.8	0.0	3	dbSNP_134	109	1,8547		0,1,4273	no	intron,intron,missense	MUC4	NM_004532.5,NM_138297.4,NM_018406.6	,,64	0,1,6453	AA,AG,GG		0.0117,0.0,0.0077	,,benign	,,800/5413	195516052	1,12907	2180	4274	6454	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516052G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2399C>T	3.37:g.195516052G>A	ENSP00000417498:p.Ala800Val					MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.A682V	p.A800V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	2555	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	805			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2399C>T	CCDS54700.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	-	6.015	0.371143	0.11409	0.0	1.17E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.49432	0.78;0.8	2.99	-3.84	0.04256	.	1024.780000	0.00628	N	0.000469	T	0.18882	0.0453	N	0.14661	0.345	0.09310	N	1	B;B	0.26363	0.147;0.003	B;B	0.16289	0.015;0.001	T	0.04128	-1.0975	10	0.27785	T	0.31	0.4823	3.7945	0.08734	0.2309:0.0:0.2436:0.5255	.	800;805	E7ESK3;Q99102	.;MUC4_HUMAN	V	800;800;774	ENSP00000417498:A800V;ENSP00000420243:A800V	ENSP00000376209:A774V	A	-	2	0	MUC4	197000447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.799000	0.00184	-0.831000	0.04256	-2.024000	0.00429	GCG		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
LIN54	132660	broad.mit.edu	37	4	83905798	83905798	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:83905798G>C	ENST00000340417.3	-	2	577	c.200C>G	c.(199-201)aCa>aGa	p.T67R	LIN54_ENST00000506560.1_Missense_Mutation_p.T67R|LIN54_ENST00000395283.2_Missense_Mutation_p.T67R|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000505397.1_Missense_Mutation_p.T67R|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.T67R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	67					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTGTACACTGTGATTGGTTC	0.428																																						uc003hnx.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(199-201)aCa>aGa		Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.							290.0	275.0	280.0					4																	83905798		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905798G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.200C>G	4.37:g.83905798G>C	ENSP00000341947:p.Thr67Arg					LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T67R|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	p.T67R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			1	578	-		Hepatocellular(203;0.114)	67					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.200C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306016	0.23736	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	4.52	0.55395	.	0.469539	0.23997	N	0.042516	T	0.43166	0.1235	N	0.19112	0.55	0.50467	D	0.999876	B;B	0.29716	0.255;0.072	B;B	0.25987	0.065;0.029	T	0.41466	-0.9507	9	0.59425	D	0.04	-9.1263	14.0787	0.64907	0.0728:0.0:0.9272:0.0	.	67;67	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	R	67	.	ENSP00000341947:T67R	T	-	2	0	LIN54	84124822	1.000000	0.71417	0.998000	0.56505	0.195000	0.23768	6.402000	0.73260	1.264000	0.44198	0.655000	0.94253	ACA		0.428	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282	
CLCN3	1182	broad.mit.edu	37	4	170610366	170610366	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:170610366C>G	ENST00000513761.1	+	5	1150	c.591C>G	c.(589-591)atC>atG	p.I197M	CLCN3_ENST00000360642.3_Missense_Mutation_p.I197M|CLCN3_ENST00000347613.4_Missense_Mutation_p.I197M|CLCN3_ENST00000504131.2_Missense_Mutation_p.I180M	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	197					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CAGAATTAATCATAGGTCAAG	0.353																																						uc003ish.3																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(589-591)atC>atG		Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.							115.0	112.0	113.0					4																	170610366		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170610366C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.591C>G	4.37:g.170610366C>G	ENSP00000424603:p.Ile197Met					CLCN3_uc003isi.3_Missense_Mutation_p.I197M|CLCN3_uc011cka.2_Missense_Mutation_p.I197M|CLCN3_uc011cjz.2_Missense_Mutation_p.I180M|CLCN3_uc003isj.2_Missense_Mutation_p.I170M	p.I197M	NM_173872	NP_776297	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	4	1150	+		Prostate(90;0.00601)|Renal(120;0.0183)	197					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.591C>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	9.479	1.097551	0.20552	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.89617	-2.52;-2.54;-2.49;-2.51;-2.37	5.36	4.5	0.54988	Chloride channel, core (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	N	0.13003	0.285	0.52099	D	0.999946	B;B;B;B;B	0.17852	0.014;0.014;0.014;0.014;0.024	B;B;B;B;B	0.18561	0.01;0.01;0.01;0.01;0.022	T	0.70952	-0.4732	9	.	.	.	-6.2814	12.4148	0.55488	0.4653:0.5347:0.0:0.0	.	197;180;170;197;197	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	M	197;197;197;180;170	ENSP00000424603:I197M;ENSP00000261514:I197M;ENSP00000353857:I197M;ENSP00000424540:I180M;ENSP00000425323:I170M	.	I	+	3	3	CLCN3	170846941	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	1.712000	0.37940	1.214000	0.43395	0.650000	0.86243	ATC		0.353	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
LRRC16A	55604	broad.mit.edu	37	6	25606465	25606465	+	Missense_Mutation	SNP	G	G	A	rs562410993		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr6:25606465G>A	ENST00000329474.6	+	35	4179	c.3811G>A	c.(3811-3813)Gtc>Atc	p.V1271I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1271					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACGGCCCGTCATCCCGCA	0.607																																						uc011djw.2																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3811-3813)Gtc>Atc		Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.							36.0	43.0	41.0					6																	25606465		1950	4146	6096	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25606465G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3811G>A	6.37:g.25606465G>A	ENSP00000331983:p.Val1271Ile					LRRC16A_uc010jpy.3_Missense_Mutation_p.V1265I	p.V1271I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			34	4179	+			1271					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3811G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015041	0.35511	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.14893	2.47	5.85	0.38	0.16222	.	0.534254	0.20328	N	0.094500	T	0.02230	0.0069	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.20887	0.012;0.049;0.039	B;B;B	0.17979	0.008;0.014;0.02	T	0.37619	-0.9698	10	0.39692	T	0.17	-3.0286	3.9524	0.09375	0.5183:0.0:0.1758:0.3059	.	1271;1265;1226	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	I	1271;1226	ENSP00000331983:V1271I	ENSP00000331983:V1271I	V	+	1	0	LRRC16A	25714444	0.002000	0.14202	0.943000	0.38184	0.560000	0.35617	1.393000	0.34497	0.033000	0.15463	-0.150000	0.13652	GTC		0.607	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
CHN2	1124	broad.mit.edu	37	7	29407575	29407575	+	Missense_Mutation	SNP	G	G	A	rs528035980		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:29407575G>A	ENST00000222792.6	+	3	646	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CHN2_ENST00000546235.1_Missense_Mutation_p.R24H|CHN2_ENST00000539389.1_Missense_Mutation_p.R39H|CHN2_ENST00000495789.2_Missense_Mutation_p.R52H|CHN2_ENST00000539406.1_Missense_Mutation_p.R114H|CHN2_ENST00000435288.2_Missense_Mutation_p.R39H	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	39					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCACCTCGTCCCAAGAGA	0.413																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0		p.R39C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(115-117)cGt>cAt		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							114.0	111.0	112.0					7																	29407575		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29407575G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.116G>A	7.37:g.29407575G>A	ENSP00000222792:p.Arg39His					CHN2_uc011jzs.2_Missense_Mutation_p.R114H|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R52H|CHN2_uc010kvd.3_Missense_Mutation_p.R39H|CHN2_uc011jzu.2_Missense_Mutation_p.R24H	p.R39H	NM_004067	NP_004058	P52757	CHIO_HUMAN			2	553	+			39					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.116G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018232	0.54576	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389;ENST00000546235	T;T;T;T;T;T;T;T	0.70516	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.49;-0.04	5.12	5.12	0.69794	.	0.122154	0.53938	N	0.000049	T	0.71584	0.3357	N	0.13043	0.29	0.80722	D	1	B;D;D;B;D	0.76494	0.106;0.998;0.999;0.243;0.998	B;D;D;B;D	0.80764	0.016;0.964;0.994;0.005;0.964	T	0.70684	-0.4804	10	0.26408	T	0.33	.	16.3346	0.83053	0.0:0.0:1.0:0.0	.	24;52;114;39;39	B7Z1W9;B7Z1V0;F5H003;B3VCG1;P52757	.;.;.;.;CHIO_HUMAN	H	114;114;39;39;52;52;39;24	ENSP00000409843:R114H;ENSP00000444063:R114H;ENSP00000222792:R39H;ENSP00000400282:R39H;ENSP00000386968:R52H;ENSP00000438587:R52H;ENSP00000440526:R39H;ENSP00000442812:R24H	ENSP00000222792:R39H	R	+	2	0	CHN2	29374100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.880000	0.75578	2.388000	0.81334	0.585000	0.79938	CGT		0.413	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
SAMD9	54809	broad.mit.edu	37	7	92731863	92731863	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:92731863G>A	ENST00000379958.2	-	3	3817	c.3548C>T	c.(3547-3549)cCg>cTg	p.P1183L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1183						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.P1183Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTGACTTCGGATACAATCT	0.378																																						uc003umf.3																			1	Substitution - Missense(1)	p.P1183Q(2)|p.P1183P(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3547-3549)cCg>cTg		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							205.0	206.0	206.0					7																	92731863		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731863G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3548C>T	7.37:g.92731863G>A	ENSP00000369292:p.Pro1183Leu					SAMD9_uc003umg.3_Missense_Mutation_p.P1183L|SAMD9_uc022ahg.1_Missense_Mutation_p.P1183L	p.P1183L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	3818	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1183					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3548C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	2.017	-0.425598	0.04701	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21191	2.02;2.83	4.54	2.13	0.27403	.	0.766887	0.11180	N	0.591031	T	0.09468	0.0233	N	0.08118	0	0.22835	N	0.998677	B	0.18461	0.028	B	0.12156	0.007	T	0.38045	-0.9679	10	0.23891	T	0.37	-0.7023	5.5193	0.16923	0.3017:0.0:0.1583:0.54	.	1183	Q5K651	SAMD9_HUMAN	L	1183	ENSP00000369292:P1183L;ENSP00000414529:P1183L	ENSP00000369292:P1183L	P	-	2	0	SAMD9	92569799	.	.	0.871000	0.34182	0.004000	0.04260	.	.	0.272000	0.22027	-1.660000	0.00751	CCG		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
BEND2	139105	broad.mit.edu	37	X	18195711	18195711	+	Silent	SNP	C	C	T	rs150572716		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:18195711C>T	ENST00000380033.4	-	10	1740	c.1608G>A	c.(1606-1608)ccG>ccA	p.P536P	BEND2_ENST00000380030.3_Silent_p.P445P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	536	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.P536P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATTTTGTTCGGGTCGAGGG	0.388																																						uc004cyj.4																			1	Substitution - coding silent(1)	p.P536Q(2)|p.P536P(2)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1606-1608)ccG>ccA		Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.		T	,	0,3835		0,0,0,1632,571	244.0	230.0	235.0		1335,1608	1.7	0.6	X	dbSNP_134	235	7,6721		0,6,1,2422,1871	no	coding-synonymous,coding-synonymous	BEND2	NM_001184767.1,NM_153346.4	,	0,6,1,4054,2442	TT,TC,T,CC,C		0.104,0.0,0.0663	,	445/646,536/800	18195711	7,10556	2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18195711C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1608G>A	X.37:g.18195711C>T						BEND2_uc010nfb.2_Silent_p.P445P	p.P536P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			9	1762	-			536			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.1608G>A	CCDS14184.1																																																																																				0.388	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
YY2	404281	broad.mit.edu	37	X	21875351	21875351	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:21875351C>T	ENST00000429584.2	+	1	1247	c.749C>T	c.(748-750)cCt>cTt	p.P250L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	250	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AAAGGAGAACCTCCCAAAACA	0.502																																						uc011mjp.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(748-750)cCt>cTt		Homo sapiens YY2 transcription factor (YY2), mRNA.							111.0	121.0	117.0					X																	21875351		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875351C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.749C>T	X.37:g.21875351C>T	ENSP00000389381:p.Pro250Leu					MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	p.P250L	NM_206923	NP_996806	O15391	TYY2_HUMAN			0	1247	+			250			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.749C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	7.681	0.689035	0.14973	.	.	ENSG00000230797	ENST00000429584	T	0.11385	2.78	4.67	-9.35	0.00633	.	0.537282	0.19381	N	0.115654	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	10	0.41790	T	0.15	.	3.0349	0.06118	0.0864:0.2873:0.2685:0.3578	.	250	O15391	TYY2_HUMAN	L	250	ENSP00000389381:P250L	ENSP00000389381:P250L	P	+	2	0	YY2	21785272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.952000	0.00677	-2.961000	0.00290	-2.103000	0.00360	CCT		0.502	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923	
