#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TJAP1	93643	broad.mit.edu	37	6	43471425	43471425	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:43471425G>A	ENST00000372445.5	+	10	936	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	TJAP1_ENST00000438588.2_Missense_Mutation_p.R187Q|TJAP1_ENST00000259751.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000372444.2_Missense_Mutation_p.R177Q|TJAP1_ENST00000372452.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.R187Q|TJAP1_ENST00000436109.2_Missense_Mutation_p.R177Q	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	187					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCACTTCCGAAACCACAAG	0.562																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(529-531)cGa>cAa		tight junction associated protein 1 (peripheral)							80.0	78.0	79.0					6																	43471425		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43471425G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.560G>A	6.37:g.43471425G>A	ENSP00000361522:p.Arg187Gln					TJAP1_ENST00000372452.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000372445.5_Missense_Mutation_p.R187Q|TJAP1_ENST00000372449.1_Missense_Mutation_p.R187Q|TJAP1_ENST00000438588.2_Missense_Mutation_p.R187Q|TJAP1_ENST00000436109.2_Missense_Mutation_p.R177Q|TJAP1_ENST00000259751.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000483640.1_3'UTR	p.R177Q	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		10	963	+	all_lung(25;0.00536)		187					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.530G>A	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715034	0.96830	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.65	5.65	0.86999	.	0.044332	0.85682	D	0.000000	T	0.68265	0.2982	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.68202	-0.5471	10	0.49607	T	0.09	-18.0977	17.901	0.88904	0.0:0.0:1.0:0.0	.	187;177	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	Q	177;187;177;187;177;177;177;187;187	ENSP00000361521:R177Q;ENSP00000361522:R187Q;ENSP00000407080:R177Q;ENSP00000390981:R187Q;ENSP00000259751:R177Q;ENSP00000361530:R177Q;ENSP00000361527:R187Q;ENSP00000408769:R187Q	ENSP00000259751:R177Q	R	+	2	0	TJAP1	43579403	1.000000	0.71417	0.976000	0.42696	0.942000	0.58702	9.495000	0.97964	2.671000	0.90904	0.462000	0.41574	CGA		0.562	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		8	36	0	0	0	0.047766	0	8	36				
SERPINF1	5176	broad.mit.edu	37	17	1675210	1675210	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:1675210T>C	ENST00000254722.4	+	5	647	c.484T>C	c.(484-486)Tat>Cat	p.Y162H	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	162					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGAAAAGTCATATGGGACCAG	0.567																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(484-486)Tat>Cat		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							52.0	51.0	51.0					17																	1675210		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1675210T>C	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.484T>C	17.37:g.1675210T>C	ENSP00000254722:p.Tyr162His					SERPINF1_ENST00000571870.1_3'UTR	p.Y162H	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			5	647	+			162					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.484T>C	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494062	0.84962	.	.	ENSG00000132386	ENST00000254722	D	0.87412	-2.25	5.79	5.79	0.91817	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94093	0.7355	10	0.62326	D	0.03	.	16.1189	0.81329	0.0:0.0:0.0:1.0	.	162	P36955	PEDF_HUMAN	H	162	ENSP00000254722:Y162H	ENSP00000254722:Y162H	Y	+	1	0	SERPINF1	1621960	1.000000	0.71417	0.898000	0.35279	0.709000	0.40893	6.493000	0.73658	2.208000	0.71279	0.459000	0.35465	TAT		0.567	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		7	33	0	0	0	0.029380	0	7	33				
GUCY2D	3000	broad.mit.edu	37	17	7910382	7910382	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7910382G>A	ENST00000254854.4	+	5	1533	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	461					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CTTCAGGACTGGAGCCGGGCC	0.602																																						ENST00000254854.4																			0				skin(1)	1						c.(1381-1383)ctG>ctA		guanylate cyclase 2D, membrane (retina-specific)							82.0	74.0	77.0					17																	7910382		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7910382G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1383G>A	17.37:g.7910382G>A							p.L461L	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			5	1533	+		Prostate(122;0.157)	461					Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1383G>A	CCDS11127.1																																																																																				0.602	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			14	59	0	0	0	0.160694	0	14	59				
TMED8	283578	broad.mit.edu	37	14	77809654	77809654	+	Silent	SNP	C	C	A	rs147229178	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:77809654C>A	ENST00000216468.7	-	5	682	c.627G>T	c.(625-627)gcG>gcT	p.A209A		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	209	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTCATCGGTCGCAAACTCCC	0.522																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(625-627)gcG>gcT		transmembrane emp24 protein transport domain containing 8							112.0	87.0	96.0					14																	77809654		2203	4300	6503	SO:0001819	synonymous_variant	283578				transport	integral to membrane		g.chr14:77809654C>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.627G>T	14.37:g.77809654C>A							p.A209A	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	5	682	-			209			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	c.627G>T	CCDS32125.1																																																																																				0.522	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		4	122	1	0	0.150653	0.150653	0.168732	4	122				
ATP2A3	489	broad.mit.edu	37	17	3850835	3850835	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3850835G>A	ENST00000352011.3	-	8	999	c.945C>T	c.(943-945)atC>atT	p.I315I	ATP2A3_ENST00000397041.3_Silent_p.I315I|ATP2A3_ENST00000397043.3_Silent_p.I315I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Silent_p.I315I|ATP2A3_ENST00000359983.3_Silent_p.I315I|ATP2A3_ENST00000397035.3_Silent_p.I315I			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	315					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCATGTAGTGATGACAGCCG	0.682																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(943-945)atC>atT		ATPase, Ca++ transporting, ubiquitous							49.0	45.0	47.0					17																	3850835		2203	4298	6501	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850835G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.945C>T	17.37:g.3850835G>A						ATP2A3_ENST00000352011.3_Silent_p.I315I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.I315I|ATP2A3_ENST00000397035.3_Silent_p.I315I|ATP2A3_ENST00000359983.3_Silent_p.I315I|ATP2A3_ENST00000397043.3_Silent_p.I315I	p.I315I	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1095	-			315					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.945C>T	CCDS11041.1																																																																																				0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		53	28	0	0	0	0.139131	0	53	28				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	92	0	0	0	0.029380	0	4	92				
GSAP	54103	broad.mit.edu	37	7	76984647	76984647	+	Silent	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:76984647C>A	ENST00000257626.7	-	16	1299	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	407					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ACTGGCTGAGCAGTGCTCTAT	0.473																																						ENST00000257626.7																			0											c.(1219-1221)ctG>ctT		gamma-secretase activating protein							103.0	110.0	107.0					7																	76984647		2203	4300	6503	SO:0001819	synonymous_variant	54103							g.chr7:76984647C>A		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1221G>T	7.37:g.76984647C>A							p.L407L	NM_017439.3	NP_059135.2					16	1299	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.1221G>T	CCDS34672.2																																																																																				0.473	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		21	70	1	0	3.10358e-05	0.069288	3.86223e-05	21	70				
NOL9	79707	broad.mit.edu	37	1	6609659	6609659	+	Missense_Mutation	SNP	G	G	A	rs144983671	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:6609659G>A	ENST00000377705.5	-	3	748	c.716C>T	c.(715-717)cCg>cTg	p.P239L		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	239					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGAACCCGGATAGCTGGT	0.408																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(715-717)cCg>cTg		nucleolar protein 9		G	LEU/PRO	0,4406		0,0,2203	100.0	91.0	94.0		716	2.3	0.2	1	dbSNP_134	94	6,8594	5.7+/-21.5	0,6,4294	yes	missense	NOL9	NM_024654.4	98	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	239/703	6609659	6,13000	2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6609659G>A	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.716C>T	1.37:g.6609659G>A	ENSP00000366934:p.Pro239Leu						p.P239L	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	3	748	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	239					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.716C>T	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	9.713	1.157479	0.21454	0.0	6.98E-4	ENSG00000162408	ENST00000377705	T	0.17854	2.25	5.61	2.35	0.29111	.	0.271287	0.27906	N	0.017372	T	0.09730	0.0239	L	0.29908	0.895	0.09310	N	1	B	0.22541	0.071	B	0.14578	0.011	T	0.26467	-1.0102	10	0.25751	T	0.34	-8.8122	4.9023	0.13781	0.1065:0.0:0.5078:0.3857	.	239	Q5SY16	NOL9_HUMAN	L	239	ENSP00000366934:P239L	ENSP00000366934:P239L	P	-	2	0	NOL9	6532246	0.047000	0.20315	0.241000	0.24154	0.464000	0.32679	1.019000	0.30014	0.610000	0.30035	0.511000	0.50034	CCG		0.408	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		3	58	0	0	0	0.150653	0	3	58				
SATB2	23314	broad.mit.edu	37	2	200298060	200298060	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:200298060C>A	ENST00000417098.1	-	3	1163		c.e3+1		SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000457245.1_Splice_Site	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2						cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCATTAATACCTTGGGCCTG	0.498																																					Colon(30;262 767 11040 24421 36230)	ENST00000417098.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e3+1		SATB homeobox 2							61.0	63.0	62.0					2																	200298060		2203	4300	6503	SO:0001630	splice_region_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298060C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.346+1G>T	2.37:g.200298060C>A						SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000457245.1_Splice_Site|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000443023.1_Intron		NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN			3	1163	-								A8K5Z8|Q3ZB87|Q4V763	Splice_Site	SNP	ENST00000417098.1	37		CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842322	0.91197	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SATB2	200006305	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.625000	0.83145	2.772000	0.95346	0.650000	0.86243	.		0.498	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	Intron	12	27	1	0	0.00136819	0.093190	0.00166563	12	27				
DVL2	1856	broad.mit.edu	37	17	7132326	7132326	+	Silent	SNP	G	G	A	rs141544993		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7132326G>A	ENST00000005340.5	-	9	1278	c.996C>T	c.(994-996)gaC>gaT	p.D332D	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Silent_p.D326D	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	332	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCCGCACAGCGTCATCGTTGC	0.547																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(994-996)gaC>gaT		dishevelled segment polarity protein 2		G		1,4405	2.1+/-5.4	0,1,2202	129.0	109.0	116.0		996	-2.2	0.8	17	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	DVL2	NM_004422.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		332/737	7132326	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7132326G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.996C>T	17.37:g.7132326G>A						DVL2_ENST00000575458.1_Silent_p.D326D	p.D332D	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			9	1278	-			332			PDZ.		D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.996C>T	CCDS11091.1																																																																																				0.547	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		46	21	0	0	0	0.139131	0	46	21				
CCDC38	120935	broad.mit.edu	37	12	96288808	96288808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:96288808G>T	ENST00000344280.3	-	8	1288	c.731C>A	c.(730-732)tCa>tAa	p.S244*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	244										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTACTTTTTGATGCCTGTGC	0.343																																						ENST00000344280.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(730-732)tCa>tAa		coiled-coil domain containing 38							252.0	245.0	248.0					12																	96288808		2201	4300	6501	SO:0001587	stop_gained	120935							g.chr12:96288808G>T	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.731C>A	12.37:g.96288808G>T	ENSP00000345470:p.Ser244*					SNRPF_ENST00000552085.1_Intron	p.S244*	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN			8	1288	-			244					Q8N835	Nonsense_Mutation	SNP	ENST00000344280.3	37	c.731C>A	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	G	38	6.840938	0.97877	.	.	ENSG00000165972	ENST00000344280	.	.	.	5.23	2.14	0.27477	.	2.332070	0.01935	N	0.041517	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	0.9774	5.7034	0.17895	0.0931:0.0:0.4468:0.4601	.	.	.	.	X	244	.	ENSP00000345470:S244X	S	-	2	0	CCDC38	94812939	0.021000	0.18746	0.008000	0.14137	0.044000	0.14063	0.596000	0.24044	1.293000	0.44690	0.491000	0.48974	TCA		0.343	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		46	82	1	0	1.61004e-24	0.139131	2.19908e-24	46	82				
DOCK7	85440	broad.mit.edu	37	1	63027310	63027310	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:63027310G>A	ENST00000340370.5	-	19	2194	c.2177C>T	c.(2176-2178)gCt>gTt	p.A726V	DOCK7_ENST00000251157.5_Missense_Mutation_p.A726V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	726	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGACGAAACAGCAACAACTTC	0.289																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2176-2178)gCt>gTt		dedicator of cytokinesis 7							70.0	76.0	74.0					1																	63027310		2203	4296	6499	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63027310G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2177C>T	1.37:g.63027310G>A	ENSP00000340742:p.Ala726Val					DOCK7_ENST00000340370.5_Missense_Mutation_p.A726V	p.A726V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			19	2210	-			726			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2177C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166845	0.78339	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.37584	1.19;1.19	4.55	4.55	0.56014	.	0.202800	0.42682	D	0.000671	T	0.46151	0.1378	L	0.38692	1.165	0.58432	D	0.999997	P;B;B;B	0.38280	0.625;0.141;0.384;0.314	P;B;P;B	0.51866	0.682;0.341;0.506;0.248	T	0.43015	-0.9417	10	0.51188	T	0.08	.	17.8654	0.88794	0.0:0.0:1.0:0.0	.	726;726;726;726	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	V	726	ENSP00000251157:A726V;ENSP00000340742:A726V	ENSP00000251157:A726V	A	-	2	0	DOCK7	62799898	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.657000	0.98554	2.543000	0.85770	0.484000	0.47621	GCT		0.289	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		3	56	0	0	0	0.115264	0	3	56				
OR4K15	81127	broad.mit.edu	37	14	20444186	20444186	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:20444186T>C	ENST00000305051.5	+	1	584	c.509T>C	c.(508-510)cTc>cCc	p.L170P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGCTCGTCCTCATTTCATGG	0.448																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(508-510)cTc>cCc		olfactory receptor, family 4, subfamily K, member 15							154.0	151.0	152.0					14																	20444186		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444186T>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.509T>C	14.37:g.20444186T>C	ENSP00000304077:p.Leu170Pro						p.L170P	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	584	+	all_cancers(95;0.00108)		170					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.509T>C	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.782184	0.31502	.	.	ENSG00000169488	ENST00000305051	T	0.42513	0.97	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	1.260600	0.05674	N	0.589114	T	0.64011	0.2560	M	0.89840	3.065	0.19775	N	0.999952	P	0.45428	0.858	P	0.53266	0.722	T	0.49031	-0.8981	10	0.72032	D	0.01	.	5.9251	0.19108	0.0:0.1182:0.0:0.8818	.	170	Q8NH41	OR4KF_HUMAN	P	170	ENSP00000304077:L170P	ENSP00000304077:L170P	L	+	2	0	OR4K15	19514026	0.000000	0.05858	0.008000	0.14137	0.283000	0.27025	0.056000	0.14256	1.661000	0.50771	0.477000	0.44152	CTC		0.448	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			3	93	0	0	0	0.115264	0	3	93				
FNDC1	84624	broad.mit.edu	37	6	159653380	159653380	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:159653380G>A	ENST00000297267.9	+	11	2036	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A	FNDC1_ENST00000340366.6_Silent_p.A549A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	612					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAGGGGCGCCCCCCTCGG	0.687																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1834-1836)gcG>gcA		fibronectin type III domain containing 1							19.0	24.0	22.0					6																	159653380		1983	4145	6128	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653380G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1836G>A	6.37:g.159653380G>A						FNDC1_ENST00000340366.6_Silent_p.A549A	p.A612A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2036	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	612					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1836G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075885	0.08485	.	.	ENSG00000164694	ENST00000329629	T	0.03413	3.94	3.86	-7.71	0.01254	.	0.903009	0.09298	N	0.821384	T	0.00496	0.0016	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36261	-0.9755	7	0.26408	T	0.33	-0.156	0.8964	0.01264	0.1924:0.2593:0.2953:0.253	.	.	.	.	T	508	ENSP00000333297:A508T	ENSP00000333297:A508T	A	+	1	0	FNDC1	159573370	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.648000	0.00859	-4.048000	0.00078	-1.322000	0.01289	GCC		0.687	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		11	28	0	0	0	0.160694	0	11	28				
NALCN	259232	broad.mit.edu	37	13	101759893	101759893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr13:101759893G>A	ENST00000251127.6	-	22	2605	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	842					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGTGTTCTCGCCCGACAATG	0.498																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2524-2526)Cga>Tga		sodium leak channel, non-selective							146.0	128.0	134.0					13																	101759893		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759893G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2524C>T	13.37:g.101759893G>A	ENSP00000251127:p.Arg842*						p.R842*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			22	2605	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		842					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.2524C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	38	7.023439	0.98010	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.61	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3965	0.87446	0.0:0.0:0.7713:0.2287	.	.	.	.	X	842	.	ENSP00000251127:R842X	R	-	1	2	NALCN	100557894	1.000000	0.71417	0.037000	0.18230	0.468000	0.32798	3.039000	0.49791	0.296000	0.22592	-0.824000	0.03097	CGA		0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		15	35	0	0	0	0.132662	0	15	35				
SIDT2	51092	broad.mit.edu	37	11	117054508	117054508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:117054508C>T	ENST00000324225.4	+	7	1247	c.716C>T	c.(715-717)cCc>cTc	p.P239L	SIDT2_ENST00000431081.2_Missense_Mutation_p.P239L|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	239					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AAAGACTTCCCCAGCAACAGC	0.473																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(715-717)cCc>cTc		SID1 transmembrane family, member 2							78.0	78.0	78.0					11																	117054508		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117054508C>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.716C>T	11.37:g.117054508C>T	ENSP00000314023:p.Pro239Leu					SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.P239L	p.P239L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	7	1247	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	239					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.716C>T	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966307	0.92855	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.46	5.46	0.80206	.	0.061993	0.64402	D	0.000003	T	0.52789	0.1756	M	0.84326	2.69	0.80722	D	1	P;P;P;P	0.45126	0.558;0.741;0.754;0.851	P;B;P;P	0.56474	0.579;0.326;0.799;0.704	T	0.55101	-0.8193	10	0.72032	D	0.01	-32.3596	19.0823	0.93187	0.0:1.0:0.0:0.0	.	239;239;239;239	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	L	239;239;239;89	ENSP00000314023:P239L;ENSP00000278951:P239L;ENSP00000399635:P239L;ENSP00000436983:P89L	ENSP00000278951:P239L	P	+	2	0	SIDT2	116559718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.464000	0.66719	2.840000	0.97914	0.596000	0.82720	CCC		0.473	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		12	37	0	0	0	0.119110	0	12	37				
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	RNA	SNP	T	T	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr3:75476630T>G	ENST00000459803.1	-	0	726					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582																																						ENST00000459803.1																			2	Substitution - coding silent(2)	p.V229V(2)	urinary_tract(1)|prostate(1)																																																692099							g.chr3:75476630T>G	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476630T>G								NR_024241.1						0	726	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.582	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	34	0	0	0	0.021553	0	5	34				
KRT85	3891	broad.mit.edu	37	12	52758101	52758101	+	Missense_Mutation	SNP	C	C	T	rs141072357		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:52758101C>T	ENST00000257901.3	-	3	754	c.679G>A	c.(679-681)Gtt>Att	p.V227I	KRT85_ENST00000544265.1_Intron	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	227	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTTAGAACGACAAACTCA	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18957	0.0		0.0	False		,,,				2504	0.0					ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(679-681)Gtt>Att		keratin 85		C	ILE/VAL	10,4396	16.8+/-37.8	0,10,2193	100.0	99.0	99.0		679	3.7	1.0	12	dbSNP_134	99	0,8600		0,0,4300	yes	missense	KRT85	NM_002283.3	29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	possibly-damaging	227/508	52758101	10,12996	2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758101C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.679G>A	12.37:g.52758101C>T	ENSP00000257901:p.Val227Ile					KRT85_ENST00000544265.1_Intron	p.V227I	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	3	754	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		227			Coil 1B.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.679G>A	CCDS8824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.19	2.462171	0.43736	0.00227	0.0	ENSG00000135443	ENST00000257901	D	0.88201	-2.35	4.62	3.71	0.42584	Filament (1);	0.400893	0.21229	N	0.078005	D	0.85801	0.5781	L	0.60067	1.865	0.80722	D	1	B	0.13594	0.008	B	0.19666	0.026	D	0.83465	0.0056	10	0.49607	T	0.09	.	10.6494	0.45638	0.0:0.8485:0.0:0.1515	.	227	P78386	KRT85_HUMAN	I	227	ENSP00000257901:V227I	ENSP00000257901:V227I	V	-	1	0	KRT85	51044368	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	0.563000	0.23547	2.409000	0.81822	0.561000	0.74099	GTT		0.572	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		14	44	0	0	0	0.175082	0	14	44				
ADCY10	55811	broad.mit.edu	37	1	167868860	167868860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:167868860G>A	ENST00000367851.4	-	6	627	c.443C>T	c.(442-444)gCt>gTt	p.A148V	ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_Missense_Mutation_p.A56V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	148	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGGCCAGCAGCCAGTCCTGG	0.493																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(166-168)gCt>gTt		adenylate cyclase 10 (soluble)							48.0	42.0	44.0					1																	167868860		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167868860G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.443C>T	1.37:g.167868860G>A	ENSP00000356825:p.Ala148Val					ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A148V	p.A56V			Q96PN6	ADCYA_HUMAN			6	664	-			148			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.167C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561256	0.86335	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	D;T	0.81579	-1.51;1.4	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.322809	0.26654	N	0.023194	T	0.75451	0.3851	L	0.46157	1.445	0.30867	N	0.732842	P;P	0.43938	0.787;0.822	B;P	0.47941	0.426;0.562	T	0.80139	-0.1507	9	0.66056	D	0.02	-6.497	14.8509	0.70295	0.0:0.0:1.0:0.0	.	56;148	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	V	148;56	ENSP00000356825:A148V;ENSP00000356822:A56V	ENSP00000356822:A56V	A	-	2	0	ADCY10	166135484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.056000	0.64287	2.630000	0.89119	0.650000	0.86243	GCT		0.493	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	20	0	0	0	0.047766	0	9	20				
VWF	7450	broad.mit.edu	37	12	6076766	6076766	+	Silent	SNP	G	G	T	rs375117638		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:6076766G>T	ENST00000261405.5	-	47	8027	c.7773C>A	c.(7771-7773)ccC>ccA	p.P2591P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2591	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCTTCCCGGGCTGGAAGC	0.622																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(7771-7773)ccC>ccA		von Willebrand factor	Antihemophilic Factor(DB00025)						123.0	115.0	118.0					12																	6076766		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6076766G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7773C>A	12.37:g.6076766G>T							p.P2591P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			47	8027	-			2591			VWFC 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.7773C>A	CCDS8539.1																																																																																				0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	125	1	0	0.014758	0.014758	0.017584	4	125				
PLPPR1	54886	broad.mit.edu	37	9	104048520	104048520	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:104048520T>A	ENST00000374874.3	+	4	824		c.e4+2		LPPR1_ENST00000395056.2_Splice_Site	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN							nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										GATTCACAGGTGAGTACAAGA	0.373																																						ENST00000374874.3																			0											c.e4+2									82.0	76.0	78.0					9																	104048520		2203	4300	6503	SO:0001630	splice_region_variant	54886					integral to membrane	catalytic activity	g.chr9:104048520T>A																												ENST00000374874.3:c.385+2T>A	9.37:g.104048520T>A						LPPR1_ENST00000395056.2_Splice_Site		NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			4	824	+								Q5VX23|Q9NXE2	Splice_Site	SNP	ENST00000374874.3	37		CCDS6751.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999987	0.74818	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-35N6.1	103088341	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.441000	0.80485	2.258000	0.74832	0.533000	0.62120	.		0.373	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1		Intron	13	38	0	0	0	0.146539	0	13	38				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	16	0	0	0	0.160694	0	13	16				
ITFG3	83986	broad.mit.edu	37	16	312195	312195	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr16:312195C>A	ENST00000399932.3	+	7	1263	c.812C>A	c.(811-813)aCa>aAa	p.T271K	ITFG3_ENST00000442458.2_Missense_Mutation_p.T271K|ITFG3_ENST00000600536.1_Missense_Mutation_p.T271K|ITFG3_ENST00000301679.2_Missense_Mutation_p.T271K|ITFG3_ENST00000301678.3_Missense_Mutation_p.T271K|ITFG3_ENST00000450082.2_Missense_Mutation_p.T271K	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	271						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTCACCAGGACAGGTGCCCAC	0.622																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(811-813)aCa>aAa		integrin alpha FG-GAP repeat containing 3							57.0	63.0	61.0					16																	312195		2170	4271	6441	SO:0001583	missense	83986					integral to membrane		g.chr16:312195C>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.812C>A	16.37:g.312195C>A	ENSP00000382814:p.Thr271Lys					ITFG3_ENST00000600536.1_Missense_Mutation_p.T271K|ITFG3_ENST00000301678.3_Missense_Mutation_p.T271K|ITFG3_ENST00000301679.2_Missense_Mutation_p.T271K|ITFG3_ENST00000442458.2_Missense_Mutation_p.T271K|ITFG3_ENST00000450082.2_Missense_Mutation_p.T271K	p.T271K			Q9H0X4	ITFG3_HUMAN			7	1263	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	271					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.812C>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	6.945	0.544078	0.13312	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.87	2.92	0.33932	Quinonprotein alcohol dehydrogenase-like (1);	1.125280	0.06415	N	0.721304	T	0.41143	0.1146	L	0.42245	1.32	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.18561	0.022;0.013	T	0.29941	-0.9995	10	0.06365	T	0.9	-12.7505	7.6558	0.28375	0.0:0.803:0.0:0.197	.	271;271	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	K	271	ENSP00000382814:T271K;ENSP00000301679:T271K;ENSP00000397477:T271K;ENSP00000301678:T271K;ENSP00000411394:T271K	ENSP00000301678:T271K	T	+	2	0	ITFG3	252196	0.000000	0.05858	0.019000	0.16419	0.755000	0.42902	0.742000	0.26216	0.595000	0.29777	0.462000	0.41574	ACA		0.622	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		3	26	1	0	1.024e-07	0.014758	1.30327e-07	3	26				
PRSS1	5644	broad.mit.edu	37	7	142459656	142459656	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:142459656A>G	ENST00000311737.7	+	3	238	c.232A>G	c.(232-234)Atc>Gtc	p.I78V	PRSS1_ENST00000486171.1_Missense_Mutation_p.I92V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	78	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AGAGCACAACATCGAAGTCCT	0.552																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(274-276)Atc>Gtc		protease, serine, 1 (trypsin 1)							189.0	180.0	183.0					7																	142459656		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459656A>G	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.232A>G	7.37:g.142459656A>G	ENSP00000308720:p.Ile78Val					PRSS1_ENST00000311737.7_Missense_Mutation_p.I78V	p.I92V			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	291	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	78			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.274A>G	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	A	8.835	0.940909	0.18281	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88896	-2.44;-2.44;-2.44	3.28	1.94	0.25998	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.046563	0.85682	D	0.000000	T	0.81437	0.4822	N	0.21097	0.63	0.48341	D	0.999638	B;B	0.24368	0.102;0.102	B;B	0.34385	0.181;0.181	T	0.77611	-0.2523	10	0.49607	T	0.09	.	8.472	0.32991	0.8042:0.1958:0.0:0.0	.	92;78	E7EQ64;P07477	.;TRY1_HUMAN	V	92;78;78;28	ENSP00000417854:I92V;ENSP00000308720:I78V;ENSP00000419912:I28V	ENSP00000308720:I78V	I	+	1	0	PRSS1	142139230	1.000000	0.71417	0.957000	0.39632	0.093000	0.18481	3.245000	0.51407	1.459000	0.47892	0.327000	0.21459	ATC		0.552	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			7	132	0	0	0	0.029380	0	7	132				
FILIP1	27145	broad.mit.edu	37	6	76023395	76023395	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:76023395C>T	ENST00000237172.7	-	5	2483	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	FILIP1_ENST00000393004.2_Missense_Mutation_p.R718Q|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R619Q	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	718										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTAAGTCTCGACTTTTAGC	0.403																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2152-2154)cGa>cAa		filamin A interacting protein 1							140.0	147.0	144.0					6																	76023395		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023395C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2153G>A	6.37:g.76023395C>T	ENSP00000237172:p.Arg718Gln					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R619Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.R718Q	p.R718Q			Q7Z7B0	FLIP1_HUMAN			5	2374	-			718					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2153G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226055	0.39300	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20463	2.07;2.07;2.07	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.07728	0.0194	L	0.51422	1.61	0.53005	D	0.99996	P;P;P	0.42456	0.78;0.598;0.474	B;B;B	0.31495	0.084;0.062;0.131	T	0.11203	-1.0597	10	0.14252	T	0.57	-10.0104	13.5736	0.61862	0.0:0.9257:0.0:0.0743	.	718;718;718	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	718;718;619	ENSP00000376728:R718Q;ENSP00000237172:R718Q;ENSP00000359037:R619Q	ENSP00000237172:R718Q	R	-	2	0	FILIP1	76080115	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.280000	0.51677	2.561000	0.86390	0.563000	0.77884	CGA		0.403	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		36	77	0	0	0	0.064281	0	36	77				
NEDD4	4734	broad.mit.edu	37	15	56142797	56142797	+	Silent	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr15:56142797C>T	ENST00000508342.1	-	10	2846	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	849	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGGTGCATGCCGGACTTCCC	0.453																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2545-2547)cgG>cgA		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							175.0	186.0	182.0					15																	56142797		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142797C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2547G>A	15.37:g.56142797C>T						NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R|NEDD4_ENST00000338963.2_Silent_p.R777R	p.R849R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2846	-			849			Mediates interaction with TNIK (By similarity).|WW 3.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2547G>A		.	.	.	.	.	.	.	.	.	.	C	0.614	-0.823869	0.02755	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.45	-0.523	0.11924	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37596	-0.9699	4	.	.	.	.	5.4306	0.16450	0.0:0.3682:0.2525:0.3793	.	.	.	.	D	440	.	.	G	-	2	0	NEDD4	53930089	0.974000	0.33945	0.982000	0.44146	0.001000	0.01503	0.073000	0.14640	-0.121000	0.11787	-1.151000	0.01829	GGC		0.453	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	161	0	0	0	0.150653	0	4	161				
DCC	1630	broad.mit.edu	37	18	50832067	50832067	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr18:50832067C>A	ENST00000442544.2	+	13	2647	c.2031C>A	c.(2029-2031)aaC>aaA	p.N677K	DCC_ENST00000581580.1_Missense_Mutation_p.N332K|DCC_ENST00000412726.1_Missense_Mutation_p.N525K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	677	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGCCAAACAACCTCTGGT	0.423																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2029-2031)aaC>aaA		deleted in colorectal carcinoma							99.0	104.0	102.0					18																	50832067		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50832067C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2031C>A	18.37:g.50832067C>A	ENSP00000389140:p.Asn677Lys					DCC_ENST00000581580.1_Missense_Mutation_p.N332K|DCC_ENST00000412726.1_Missense_Mutation_p.N525K	p.N677K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	13	2647	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	677			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2031C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888406	0.33348	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.56444	0.46;0.46	5.58	1.83	0.25207	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.38838	1.175	0.44816	D	0.997824	P;P;P	0.51933	0.685;0.685;0.949	P;P;P	0.59889	0.865;0.821;0.788	T	0.51718	-0.8670	10	0.59425	D	0.04	.	9.39	0.38367	0.0:0.7002:0.0:0.2998	.	525;525;677	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	677;610;525	ENSP00000389140:N677K;ENSP00000397322:N525K	ENSP00000304146:N610K	N	+	3	2	DCC	49086065	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	2.362000	0.44169	0.114000	0.18032	-0.136000	0.14681	AAC		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	49	1	0	9.16793e-09	0.160694	1.19396e-08	15	49				
FRMD3	257019	broad.mit.edu	37	9	85950554	85950554	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:85950554G>A	ENST00000304195.3	-	6	679	c.473C>T	c.(472-474)gCt>gTt	p.A158V	FRMD3_ENST00000376438.1_Splice_Site_p.A158V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	158	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ACCAAGCTCAGCTGTAATGAG	0.413																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.e6-1		FERM domain containing 3							77.0	66.0	69.0					9																	85950554		1852	4100	5952	SO:0001630	splice_region_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85950554G>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.473-1C>T	9.37:g.85950554G>A						FRMD3_ENST00000376438.1_Splice_Site_p.A158_splice	p.A158_splice	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			6	679	-			158			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Splice_Site	SNP	ENST00000304195.3	37	c.472_splice	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100374	0.94245	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.77877	-1.13;-1.13	5.16	5.16	0.70880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88194	0.6371	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.89317	0.3637	10	0.87932	D	0	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	158;158	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	V	158;158;54	ENSP00000365621:A158V;ENSP00000303508:A158V	ENSP00000303508:A158V	A	-	2	0	FRMD3	85140374	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.648000	0.83479	2.568000	0.86640	0.591000	0.81541	GCT		0.413	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	Missense_Mutation	10	23	0	0	0	0.069234	0	10	23				
MICAL2	9645	broad.mit.edu	37	11	12278373	12278373	+	Silent	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:12278373C>T	ENST00000256194.4	+	24	3285	c.2997C>T	c.(2995-2997)agC>agT	p.S999S	MICAL2_ENST00000537344.1_Silent_p.S809S|MICAL2_ENST00000379612.3_Silent_p.S773S|MICAL2_ENST00000342902.5_Silent_p.S978S|MICAL2_ENST00000527546.1_Silent_p.S809S	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	999					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGAGGCAGCGACACGTGTT	0.537																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2995-2997)agC>agT		microtubule associated monooxygenase, calponin and LIM domain containing 2							127.0	102.0	110.0					11																	12278373		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278373C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2997C>T	11.37:g.12278373C>T						MICAL2_ENST00000342902.5_Silent_p.S978S|MICAL2_ENST00000379612.3_Silent_p.S773S|MICAL2_ENST00000527546.1_Silent_p.S809S|MICAL2_ENST00000537344.1_Silent_p.S809S	p.S999S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	24	3285	+			999					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.2997C>T	CCDS7809.1																																																																																				0.537	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		11	43	0	0	0	0.069234	0	11	43				
KCNA4	3739	broad.mit.edu	37	11	30032556	30032556	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:30032556G>A	ENST00000328224.6	-	2	2903	c.1670C>T	c.(1669-1671)cCa>cTa	p.P557L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	557					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACAATCACTGGCACTGGCAA	0.498																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1669-1671)cCa>cTa		potassium voltage-gated channel, shaker-related subfamily, member 4							71.0	76.0	74.0					11																	30032556		2141	4273	6414	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032556G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1670C>T	11.37:g.30032556G>A	ENSP00000328511:p.Pro557Leu						p.P557L	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2903	-			557						Missense_Mutation	SNP	ENST00000328224.6	37	c.1670C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039255	0.75617	.	.	ENSG00000182255	ENST00000328224	D	0.98455	-4.94	5.69	5.69	0.88448	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98507	1.0617	10	0.87932	D	0	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	557	P22459	KCNA4_HUMAN	L	557	ENSP00000328511:P557L	ENSP00000328511:P557L	P	-	2	0	KCNA4	29989132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.679000	0.91253	0.650000	0.86243	CCA		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		25	25	0	0	0	0.083992	0	25	25				
NYAP2	57624	broad.mit.edu	37	2	226447697	226447697	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:226447697C>T	ENST00000272907.6	+	4	1977	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	522					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R522C(1)									CTCCTCCGGCCGCAGCCTGCT	0.701																																						ENST00000272907.6																			1	Substitution - Missense(1)	p.R522C(1)	lung(1)								c.(1564-1566)Cgc>Tgc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							11.0	14.0	13.0					2																	226447697		1881	4036	5917	SO:0001583	missense	57624							g.chr2:226447697C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1564C>T	2.37:g.226447697C>T	ENSP00000272907:p.Arg522Cys					NYAP2_ENST00000409269.2_Intron	p.R522C	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1977	+			522					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1564C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222109	0.39300	.	.	ENSG00000144460	ENST00000272907	T	0.42513	0.97	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.62534	-0.6834	10	0.87932	D	0	-28.4297	14.5363	0.67963	0.1463:0.8537:0.0:0.0	.	36;522	Q9P242-3;Q9P242	.;K1486_HUMAN	C	522	ENSP00000272907:R522C	ENSP00000272907:R522C	R	+	1	0	KIAA1486	226155941	0.963000	0.33076	0.178000	0.23040	0.056000	0.15407	2.180000	0.42537	2.652000	0.90054	0.655000	0.94253	CGC		0.701	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		6	10	0	0	0	0.029380	0	6	10				
KCNK17	89822	broad.mit.edu	37	6	39271892	39271892	+	Missense_Mutation	SNP	G	G	A	rs566450809		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:39271892G>A	ENST00000373231.4	-	4	761	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	KCNK17_ENST00000453413.2_Missense_Mutation_p.R177W	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	177					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCCAGCCACCGCGCCTTGTCA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15731	0.0		0.0	False		,,,				2504	0.001					ENST00000453413.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(529-531)Cgg>Tgg		potassium channel, subfamily K, member 17							32.0	36.0	34.0					6																	39271892		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39271892G>A	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.529C>T	6.37:g.39271892G>A	ENSP00000362328:p.Arg177Trp					KCNK17_ENST00000373231.4_Missense_Mutation_p.R177W	p.R177W	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN			4	669	-			177					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.529C>T	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861699	0.51482	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.49432	1.72;0.78	4.21	1.24	0.21308	.	1.184070	0.06502	N	0.736528	T	0.44871	0.1314	M	0.82517	2.595	0.09310	N	1	D;D	0.71674	0.998;0.986	P;P	0.55260	0.772;0.582	T	0.19778	-1.0295	10	0.72032	D	0.01	.	3.8901	0.09114	0.1871:0.0:0.465:0.3479	.	177;177	E9PB46;Q96T54	.;KCNKH_HUMAN	W	177	ENSP00000362328:R177W;ENSP00000401271:R177W	ENSP00000362328:R177W	R	-	1	2	KCNK17	39379870	0.001000	0.12720	0.005000	0.12908	0.010000	0.07245	0.805000	0.27112	0.034000	0.15491	0.561000	0.74099	CGG		0.672	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		8	32	0	0	0	0.105934	0	8	32				
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Silent	SNP	C	C	T	rs143281239		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr4:96761394C>T	ENST00000295266.4	+	1	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	31					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.D31E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCTCAAATGACGCTACATTTG	0.502																																						ENST00000295266.4																			1	Substitution - Missense(1)	p.D31E(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(91-93)gaC>gaT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)	C		1,4405	2.1+/-5.4	0,1,2202	58.0	58.0	58.0		93	-9.3	0.0	4	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	PDHA2	NM_005390.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		31/389	96761394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761394C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.93C>T	4.37:g.96761394C>T							p.D31D	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	156	+		Hepatocellular(203;0.114)	31					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.93C>T	CCDS3644.1																																																																																				0.502	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			4	21	0	0	0	0.150653	0	4	21				
OR52N1	79473	broad.mit.edu	37	11	5809766	5809766	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:5809766A>G	ENST00000317078.1	-	1	280	c.281T>C	c.(280-282)aTt>aCt	p.I94T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTAAAATCAATCTCCTTGAG	0.502																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(280-282)aTt>aCt		olfactory receptor, family 52, subfamily N, member 1							145.0	137.0	139.0					11																	5809766		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809766A>G	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.281T>C	11.37:g.5809766A>G	ENSP00000322823:p.Ile94Thr					TRIM5_ENST00000380027.1_Intron	p.I94T	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	280	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	94					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.281T>C	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570818	0.45798	.	.	ENSG00000181001	ENST00000317078	T	0.00605	6.27	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.125160	0.35436	N	0.003206	T	0.01835	0.0058	H	0.94925	3.6	0.33950	D	0.644367	B	0.18968	0.032	B	0.23716	0.048	T	0.00525	-1.1689	10	0.72032	D	0.01	.	13.2255	0.59912	1.0:0.0:0.0:0.0	.	94	Q8NH53	O52N1_HUMAN	T	94	ENSP00000322823:I94T	ENSP00000322823:I94T	I	-	2	0	OR52N1	5766342	0.996000	0.38824	0.938000	0.37757	0.875000	0.50365	4.824000	0.62701	2.044000	0.60594	0.496000	0.49642	ATT		0.502	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		24	95	0	0	0	0.083992	0	24	95				
NOTCH1	4851	broad.mit.edu	37	9	139393579	139393579	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:139393579C>T	ENST00000277541.6	-	32	6142	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2023					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCATCTACGGCGTTGACGTCG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6067-6069)Gcc>Acc		notch 1							81.0	92.0	89.0					9																	139393579		2202	4299	6501	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393579C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6067G>A	9.37:g.139393579C>T	ENSP00000277541:p.Ala2023Thr	HNSCC(8;0.001)					p.A2023T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	32	6142	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2023					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6067G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563567	0.65651	.	.	ENSG00000148400	ENST00000277541	T	0.55760	0.5	5.07	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67130	-0.5748	10	0.87932	D	0	.	17.7871	0.88541	0.0:1.0:0.0:0.0	.	2023	P46531	NOTC1_HUMAN	T	2023	ENSP00000277541:A2023T	ENSP00000277541:A2023T	A	-	1	0	NOTCH1	138513400	1.000000	0.71417	0.958000	0.39756	0.003000	0.03518	7.243000	0.78219	2.512000	0.84698	0.561000	0.74099	GCC		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		44	33	0	0	0	0.139131	0	44	33				
DENND2A	27147	broad.mit.edu	37	7	140301371	140301371	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:140301371G>A	ENST00000275884.6	-	2	1244	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	276					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTTCTCCGGCATGTTTGAA	0.582																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(826-828)gCc>gTc		DENN/MADD domain containing 2A							117.0	125.0	123.0					7																	140301371		1959	4145	6104	SO:0001583	missense	27147							g.chr7:140301371G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.827C>T	7.37:g.140301371G>A	ENSP00000275884:p.Ala276Val					DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V	p.A276V			Q9ULE3	DEN2A_HUMAN			2	1244	-	Melanoma(164;0.00956)		276					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.827C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950901	0.34471	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10099	3.61;3.61;3.61;2.91	4.85	3.83	0.44106	.	1.035520	0.07631	N	0.928591	T	0.09730	0.0239	N	0.22421	0.69	0.29365	N	0.86438	B;B	0.32283	0.362;0.037	B;B	0.31869	0.137;0.028	T	0.26985	-1.0087	10	0.54805	T	0.06	-3.1772	10.5809	0.45255	0.0:0.0:0.2762:0.7238	.	276;276	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	V	276	ENSP00000275884:A276V;ENSP00000442245:A276V;ENSP00000419654:A276V;ENSP00000419464:A276V	ENSP00000275884:A276V	A	-	2	0	DENND2A	139947840	0.995000	0.38212	0.360000	0.25837	0.386000	0.30323	3.235000	0.51328	1.084000	0.41184	0.462000	0.41574	GCC		0.582	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		4	185	0	0	0	0.150653	0	4	185				
ZNF512	84450	broad.mit.edu	37	2	27822848	27822848	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:27822848C>T	ENST00000355467.4	+	5	468	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ZNF512_ENST00000413371.2_Missense_Mutation_p.R52W|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128W|ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Silent_p.N39N	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					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)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCAACGGCCTAAAAC	0.478																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(385-387)Cgg>Tgg		zinc finger protein 512							122.0	106.0	112.0					2																	27822848		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822848C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.385C>T	2.37:g.27822848C>T	ENSP00000347648:p.Arg129Trp					ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000556601.1_Silent_p.N39N|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128W|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52W|ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA	p.R129W			Q96ME7	ZN512_HUMAN			5	468	+	Acute lymphoblastic leukemia(172;0.155)		129					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.385C>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385176	0.82792	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000413371	.	.	.	5.87	4.99	0.66335	.	0.092424	0.48286	D	0.000196	T	0.66005	0.2746	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.64321	0.924	T	0.69343	-0.5170	9	0.72032	D	0.01	-19.2832	13.9819	0.64310	0.1512:0.8488:0.0:0.0	.	129	Q96ME7	ZN512_HUMAN	W	128;129;52	.	ENSP00000347648:R129W	R	+	1	2	ZNF512	27676352	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	2.608000	0.46308	1.601000	0.50113	0.655000	0.94253	CGG		0.478	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		15	15	0	0	0	0.160694	0	15	15				
IGLV10-54	28772	broad.mit.edu	37	22	22569614	22569614	+	RNA	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr22:22569614C>A	ENST00000390287.2	+	0	319									immunoglobulin lambda variable 10-54																		AGCCTGAGGACGAGGCTGACT	0.542																																						ENST00000390287.2																			0																				55.0	57.0	56.0					22																	22569614		2022	4185	6207			28772							g.chr22:22569614C>A	Z73676		22q11.2	2012-02-08			ENSG00000211642	ENSG00000211642		"""Immunoglobulins / IGL locus"""	5884	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150993		22.37:g.22569614C>A														0	319	+									RNA	SNP	ENST00000390287.2	37																																																																																						0.542	IGLV10-54-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320858.1	NG_000002		3	35	1	0	0.115264	0.115264	0.134475	3	35				
PCDHGA5	56110	broad.mit.edu	37	5	140745185	140745185	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr5:140745185C>A	ENST00000518069.1	+	1	1288	c.1288C>A	c.(1288-1290)Ccg>Acg	p.P430T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGAACCCCGCCCCTCTC	0.458																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1288-1290)Ccg>Acg									94.0	99.0	98.0					5																	140745185		1902	4107	6009	SO:0001583	missense	56110							g.chr5:140745185C>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1288C>A	5.37:g.140745185C>A	ENSP00000429834:p.Pro430Thr					PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.P430T	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1288	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1288C>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	16.43	3.119936	0.56613	.	.	ENSG00000253485	ENST00000518069	T	0.56275	0.47	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87414	0.6171	H	0.99942	5.005	0.37767	D	0.926531	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94247	0.7490	9	0.87932	D	0	.	19.4222	0.94726	0.0:1.0:0.0:0.0	.	430;430	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	T	430	ENSP00000429834:P430T	ENSP00000429834:P430T	P	+	1	0	PCDHGA5	140725369	1.000000	0.71417	0.961000	0.40146	0.736000	0.42039	7.383000	0.79741	2.756000	0.94617	0.563000	0.77884	CCG		0.458	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		25	62	1	0	6.32553e-13	0.099896	8.43404e-13	25	62				
OR3A2	4995	broad.mit.edu	37	17	3181737	3181737	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3181737C>T	ENST00000408891.2	-	1	531	c.493G>A	c.(493-495)Gca>Aca	p.A165T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	165					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						TGGGTCAGTGCGTTGGTGAAG	0.582																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	ENST00000408891.2																			0				ovary(1)	1						c.(493-495)Gca>Aca		olfactory receptor, family 3, subfamily A, member 2							151.0	138.0	143.0					17																	3181737		2203	4300	6503	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181737C>T	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.493G>A	17.37:g.3181737C>T	ENSP00000386180:p.Ala165Thr						p.A165T	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN			1	531	-			165					Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.493G>A	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825663	0.32237	.	.	ENSG00000221882	ENST00000408891	T	0.39056	1.1	4.3	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000132	T	0.38931	0.1059	L	0.42245	1.32	0.25848	N	0.98398	P	0.49635	0.926	P	0.46208	0.507	T	0.29058	-1.0024	10	0.66056	D	0.02	-16.0424	10.4909	0.44750	0.4595:0.5405:0.0:0.0	.	165	P47893	OR3A2_HUMAN	T	165	ENSP00000386180:A165T	ENSP00000386180:A165T	A	-	1	0	OR3A2	3128487	0.001000	0.12720	0.998000	0.56505	0.019000	0.09904	-0.146000	0.10250	1.403000	0.46800	0.556000	0.70494	GCA		0.582	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			21	89	0	0	0	0.091800	0	21	89				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	64	0	0	0	0.038147	0	4	64				
EMR1	2015	broad.mit.edu	37	19	6908712	6908712	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr19:6908712G>A	ENST00000312053.4	+	10	1088	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	EMR1_ENST00000381404.4_Missense_Mutation_p.A299T|EMR1_ENST00000381407.5_Missense_Mutation_p.A210T|EMR1_ENST00000450315.3_Missense_Mutation_p.A174T|EMR1_ENST00000250572.8_Missense_Mutation_p.A351T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	351	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTCCTTTTGTGCACAAATAAA	0.368																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1051-1053)Gca>Aca		egf-like module containing, mucin-like, hormone receptor-like 1							101.0	107.0	105.0					19																	6908712		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6908712G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1051G>A	19.37:g.6908712G>A	ENSP00000311545:p.Ala351Thr					EMR1_ENST00000450315.3_Missense_Mutation_p.A174T|EMR1_ENST00000381407.5_Missense_Mutation_p.A210T|EMR1_ENST00000250572.8_Missense_Mutation_p.A351T|EMR1_ENST00000381404.4_Missense_Mutation_p.A299T	p.A351T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			10	1088	+	all_hematologic(4;0.166)		351			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1051G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	4.695	0.129318	0.08981	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78595	-1.14;-1.15;-1.19;0.05;0.34	3.7	-1.6	0.08426	.	.	.	.	.	T	0.52933	0.1765	N	0.17723	0.515	0.09310	N	1	B;B;B;B;B	0.19583	0.028;0.005;0.037;0.006;0.022	B;B;B;B;B	0.14578	0.011;0.002;0.01;0.003;0.004	T	0.35400	-0.9790	9	0.08837	T	0.75	.	2.8736	0.05624	0.453:0.0:0.3408:0.2062	.	174;210;351;299;351	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	T	351;351;299;351;210;174	ENSP00000311545:A351T;ENSP00000370811:A299T;ENSP00000250572:A351T;ENSP00000370814:A210T;ENSP00000405974:A174T	ENSP00000250572:A351T	A	+	1	0	EMR1	6859712	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.389000	0.07342	-0.089000	0.12484	0.655000	0.94253	GCA		0.368	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			15	42	0	0	0	0.119110	0	15	42				
ADAM12	8038	broad.mit.edu	37	10	127724762	127724762	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr10:127724762C>T	ENST00000368679.4	-	21	2800	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	831					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTGGCAGGGACGCTAGGTGCA	0.562																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2491-2493)Gtc>Atc		ADAM metallopeptidase domain 12							52.0	53.0	53.0					10																	127724762		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127724762C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2491G>A	10.37:g.127724762C>T	ENSP00000357668:p.Val831Ile						p.V831I	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	21	2800	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	831					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.2491G>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826355	0.16749	.	.	ENSG00000148848	ENST00000368679	T	0.01505	4.82	5.16	3.31	0.37934	.	1.015590	0.07915	N	0.974967	T	0.01222	0.0040	N	0.14661	0.345	0.80722	D	1	P	0.49862	0.929	B	0.35971	0.215	T	0.64076	-0.6492	10	0.09590	T	0.72	.	11.2291	0.48901	0.0:0.8495:0.0:0.1505	.	831	O43184	ADA12_HUMAN	I	831	ENSP00000357668:V831I	ENSP00000357668:V831I	V	-	1	0	ADAM12	127714752	0.980000	0.34600	0.880000	0.34516	0.118000	0.20060	2.575000	0.46025	0.677000	0.31305	-0.140000	0.14226	GTC		0.562	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			4	43	0	0	0	0.150653	0	4	43				
MAGEF1	64110	broad.mit.edu	37	3	184428979	184428983	+	Frame_Shift_Del	DEL	TCGGA	TCGGA	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr3:184428979_184428983delTCGGA	ENST00000317897.3	-	1	853_857	c.627_631delTCCGA	c.(625-633)tatccgaagfs	p.YPK209fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	209	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			ATAAGCCTCTTCGGATACCCAAAGA	0.507																																						ENST00000317897.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(625-633)taagfs		melanoma antigen family F, 1																																				SO:0001589	frameshift_variant	64110							g.chr3:184428979_184428983delTCGGA	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.627_631delTCCGA	3.37:g.184428979_184428983delTCGGA	ENSP00000315064:p.Tyr209fs						p.YPK209fs	NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	853_857	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		209			MAGE.		Q9H215	Frame_Shift_Del	DEL	ENST00000317897.3	37	c.627_631delTCCGA	CCDS3269.1																																																																																				0.507	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		31	59						31	59	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		7	63						7	63	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs190828070|rs71454096|rs71025763|rs144216147|rs369130959	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggaggctgtgggggctgtggctccggctgtgcg>ggg	p.GCGGCGSGCA44del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-159)ggg>gg		keratin associated protein 5-5				1550,180,1680		393,53,711,32,63,453						3.0	0.7		dbSNP_130	23	2914,455,3725		670,91,1483,84,196,1023	no	codingComplex	KRTAP5-5	NM_001001480.2		1063,144,2194,116,259,1476	A1A1,A1A2,A1R,A2A2,A2R,RR		47.4908,50.7331,48.5434				4464,635,5405				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	11.37:g.1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENSP00000382584:p.Gly44_Ala53del						p.GGCGGCGSGCA43del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_196	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	CCDS41592.1																																																																																				0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			28	9						28	9	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121445040	121445050	+	Frame_Shift_Del	DEL	ACTGTGGAGAC	ACTGTGGAGAC	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:121445040_121445050delACTGTGGAGAC	ENST00000260197.7	+	24	3557_3567	c.3428_3438delACTGTGGAGAC	c.(3427-3438)gactgtggagacfs	p.DCGD1143fs	SORL1_ENST00000532694.1_5'Flank|SORL1_ENST00000534286.1_5'Flank|SORL1_ENST00000525532.1_Frame_Shift_Del_p.DCGD87fs	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1143	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTGAGGATGACTGTGGAGACAACAGTGATG	0.512																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(3427-3438)gfs		sortilin-related receptor, L(DLR class) A repeats containing																																				SO:0001589	frameshift_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121445040_121445050delACTGTGGAGAC	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3428_3438delACTGTGGAGAC	11.37:g.121445040_121445050delACTGTGGAGAC	ENSP00000260197:p.Asp1143fs					SORL1_ENST00000525532.1_Frame_Shift_Del_p.DCGD87fs	p.DCGD1143fs	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	24	3557_3567	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1143			LDL-receptor class A 2.		B2RNX7|Q92856	Frame_Shift_Del	DEL	ENST00000260197.7	37	c.3428_3438delACTGTGGAGAC	CCDS8436.1																																																																																				0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		8	99						8	99	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691797	106691799	+	RNA	DEL	TAA	TAA	-	rs538335553	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:106691797_106691799delTAA	ENST00000390607.2	-	0	303_305									immunoglobulin heavy variable 3-21																		GTAGTATATGTAACTACTACTAC	0.517																																						ENST00000390607.2																			0																																																			28444							g.chr14:106691797_106691799delTAA	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691797_106691799delTAA														0	303_305	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		17	270						17	270	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			388165							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		4	6						4	6	---	---	---	---
