#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
ZAP70	7535	broad.mit.edu	37	2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682																																						ENST00000264972.5																			1	Substitution - Missense(1)	p.P421Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1261-1263)cCg>cTg		zeta-chain (TCR) associated protein kinase 70kDa							73.0	77.0	75.0					2																	98351892		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351892C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1262C>T	2.37:g.98351892C>T	ENSP00000264972:p.Pro421Leu					ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR	p.P421L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1477	+			421			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1262C>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753255	0.69648	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62364	0.03;0.03;0.03	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	T	0.68815	0.3042	N	0.26042	0.785	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.65773	0.938;0.868	T	0.71616	-0.4539	10	0.87932	D	0	.	17.5952	0.88010	0.0:1.0:0.0:0.0	.	295;421	P43403-3;P43403	.;ZAP70_HUMAN	L	421;295;114	ENSP00000264972:P421L;ENSP00000411141:P295L;ENSP00000400475:P114L	ENSP00000264972:P421L	P	+	2	0	ZAP70	97718324	1.000000	0.71417	0.994000	0.49952	0.360000	0.29518	5.966000	0.70395	2.844000	0.97970	0.643000	0.83706	CCG		0.682	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			5	206	0	0	0	0.217242	0	5	206				
WASH6P	653440	broad.mit.edu	37	X	155254749	155254749	+	RNA	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:155254749G>A	ENST00000461007.1	+	0	3665				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TCAACAAGCTGGTCATGAGGC	0.572																																						ENST00000285718.7																			0																																																			0							g.chrX:155254749G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254749G>A						WASH6P_ENST00000461007.1_RNA								0	1194	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.572	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	17	0	0	0	0.248553	0	4	17				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	258	0	0	0	0.217242	0	5	258				
EIF2AK3	9451	broad.mit.edu	37	2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:88913315T>C	ENST00000303236.3	-	2	666	c.365A>G	c.(364-366)aAt>aGt	p.N122S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTTACCATGATTTTCAGGATC	0.358																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(364-366)aAt>aGt		eukaryotic translation initiation factor 2-alpha kinase 3							121.0	108.0	112.0					2																	88913315		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913315T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.365A>G	2.37:g.88913315T>C	ENSP00000307235:p.Asn122Ser					EIF2AK3_ENST00000419748.1_5'UTR	p.N122S	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			2	666	-			122					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.365A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564345	0.86335	.	.	ENSG00000172071	ENST00000303236	T	0.28666	1.6	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.64170	1.965	0.46317	D	0.998983	D	0.69078	0.997	D	0.75020	0.985	T	0.54721	-0.8251	10	0.59425	D	0.04	-21.6665	15.3963	0.74798	0.0:0.0:0.0:1.0	.	122	Q9NZJ5	E2AK3_HUMAN	S	122	ENSP00000307235:N122S	ENSP00000307235:N122S	N	-	2	0	EIF2AK3	88694430	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.597000	0.82733	2.028000	0.59812	0.533000	0.62120	AAT		0.358	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		94	128	0	0	0	0.870114	0	94	128				
ZFP37	7539	broad.mit.edu	37	9	115805120	115805120	+	Missense_Mutation	SNP	C	C	A	rs541249239		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:115805120C>A	ENST00000374227.3	-	4	1805	c.1778G>T	c.(1777-1779)cGa>cTa	p.R593L	ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L|ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTGTGGGATCGCTGATGTAT	0.368																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1777-1779)cGa>cTa		ZFP37 zinc finger protein							192.0	173.0	180.0					9																	115805120		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805120C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1778G>T	9.37:g.115805120C>A	ENSP00000363344:p.Arg593Leu					ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L|ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L	p.R593L			Q9Y6Q3	ZFP37_HUMAN			4	1805	-			593					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1778G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184556	0.57909	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.25085	1.82;1.82;1.82	4.25	3.35	0.38373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000447	T	0.43255	0.1239	L	0.57130	1.785	0.34892	D	0.745593	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.74348	0.983;0.973;0.955	T	0.57539	-0.7794	10	0.66056	D	0.02	-9.1634	10.5747	0.45221	0.0:0.9042:0.0:0.0958	.	594;608;593	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	L	593;594;608	ENSP00000363344:R593L;ENSP00000451310:R594L;ENSP00000452552:R608L	ENSP00000363344:R593L	R	-	2	0	ZFP37	114844941	0.003000	0.15002	0.999000	0.59377	0.932000	0.56968	1.891000	0.39738	1.381000	0.46364	0.655000	0.94253	CGA		0.368	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		4	150	1	0	0.150653	0.150653	0.154467	4	150				
CATSPERG	57828	broad.mit.edu	37	19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:38852407T>G	ENST00000409235.3	+	17	2115	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	667					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCGCCGCGCGTCCTGGAGCGC	0.667																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(1999-2001)gTc>gGc		catsper channel auxiliary subunit gamma							19.0	17.0	18.0					19																	38852407		2188	4276	6464	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38852407T>G	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2000T>G	19.37:g.38852407T>G	ENSP00000386962:p.Val667Gly					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G	p.V667G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			17	2115	+			667					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2000T>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395478	0.62066	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.42513	0.97;0.97	4.67	3.65	0.41850	.	1.595100	0.03897	N	0.279615	T	0.48390	0.1497	L	0.55481	1.735	0.19775	N	0.999955	P;D	0.53151	0.904;0.958	P;P	0.48227	0.525;0.571	T	0.24261	-1.0165	10	0.87932	D	0	-5.7195	6.6437	0.22923	0.0:0.1112:0.0:0.8888	.	667;627	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	G	627;667;667	ENSP00000387057:V627G;ENSP00000386962:V667G	ENSP00000386962:V667G	V	+	2	0	CATSPERG	43544247	0.019000	0.18553	0.000000	0.03702	0.051000	0.14879	2.309000	0.43699	0.655000	0.30866	0.334000	0.21626	GTC		0.667	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	24	0	0	0	0.184627	0	5	24				
PC	5091	broad.mit.edu	37	11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:66616483C>A	ENST00000393958.2	-	22	3517	c.3424G>T	c.(3424-3426)Gcc>Tcc	p.A1142S	PC_ENST00000393960.1_Missense_Mutation_p.A1142S|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1142S	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1142	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCTTCATGGCACTGAGCACA	0.592																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3424-3426)Gcc>Tcc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						130.0	114.0	119.0					11																	66616483		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66616483C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3424G>T	11.37:g.66616483C>A	ENSP00000377530:p.Ala1142Ser					PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S|PC_ENST00000393955.2_Missense_Mutation_p.A1142S	p.A1142S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	23	3705	-		Melanoma(852;0.0525)	1142			Biotinyl-binding.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.3424G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501018	0.85176	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.66	4.66	0.58398	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.110892	0.64402	D	0.000011	T	0.75932	0.3917	M	0.79343	2.45	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.79652	-0.1714	10	0.87932	D	0	-25.9751	15.072	0.72046	0.0:1.0:0.0:0.0	.	1142	P11498	PYC_HUMAN	S	262;1142;1142;1142	ENSP00000435905:A262S;ENSP00000377527:A1142S;ENSP00000377530:A1142S;ENSP00000377532:A1142S	ENSP00000377527:A1142S	A	-	1	0	PC	66373059	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	5.563000	0.67352	2.414000	0.81942	0.462000	0.41574	GCC		0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		5	211	1	0	0.014758	0.184627	0.0153256	5	211				
DSE	29940	broad.mit.edu	37	6	116757925	116757925	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:116757925G>A	ENST00000331677.3	+	7	2738	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	DSE_ENST00000359564.2_Missense_Mutation_p.R765Q|DSE_ENST00000452085.3_Missense_Mutation_p.R765Q|DSE_ENST00000537543.1_Missense_Mutation_p.R784Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	765					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCCGAGTCCGGAACACAGCT	0.478																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2293-2295)cGg>cAg		dermatan sulfate epimerase							76.0	79.0	78.0					6																	116757925		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757925G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2294G>A	6.37:g.116757925G>A	ENSP00000332151:p.Arg765Gln					DSE_ENST00000537543.1_Missense_Mutation_p.R784Q|DSE_ENST00000359564.2_Missense_Mutation_p.R765Q|DSE_ENST00000452085.3_Missense_Mutation_p.R765Q	p.R765Q			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2738	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	765					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2294G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330751	0.24167	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	6.16	2.41	0.29592	.	0.333539	0.34245	N	0.004134	T	0.18509	0.0444	N	0.16478	0.41	0.31324	N	0.685635	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08432	-1.0722	10	0.36615	T	0.2	-8.2513	8.7165	0.34414	0.349:0.0:0.651:0.0	.	784;765	B7Z765;Q9UL01	.;DSE_HUMAN	Q	765;784;765;765	ENSP00000404049:R765Q;ENSP00000441152:R784Q;ENSP00000332151:R765Q;ENSP00000352567:R765Q	ENSP00000332151:R765Q	R	+	2	0	DSE	116864618	0.750000	0.28316	0.996000	0.52242	0.992000	0.81027	0.869000	0.27996	0.465000	0.27167	0.650000	0.86243	CGG		0.478	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		7	173	0	0	0	0.307466	0	7	173				
ABCC5	10057	broad.mit.edu	37	3	183667864	183667864	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:183667864G>A	ENST00000334444.6	-	21	3234	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	ABCC5_ENST00000265586.6_Silent_p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	998	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGAACACCAGGATAACGTTCT	0.507																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2992-2994)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							66.0	69.0	68.0					3																	183667864		2038	4204	6242	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667864G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2994C>T	3.37:g.183667864G>A						ABCC5_ENST00000265586.6_Silent_p.I998I	p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3234	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		998			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2994C>T	CCDS43176.1																																																																																				0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		22	51	0	0	0	0.654019	0	22	51				
CLDN2	9075	broad.mit.edu	37	X	106171821	106171821	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:106171821T>G	ENST00000541806.1	+	2	882	c.363T>G	c.(361-363)ggT>ggG	p.G121G	CLDN2_ENST00000336803.1_Silent_p.G121G|CLDN2_ENST00000540876.1_Silent_p.G121G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	121					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CGGTAGCAGGTGGAGTCTTTT	0.542																																						ENST00000541806.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(361-363)ggT>ggG		claudin 2							121.0	103.0	109.0					X																	106171821		2203	4300	6503	SO:0001819	synonymous_variant	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171821T>G	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.363T>G	X.37:g.106171821T>G						CLDN2_ENST00000540876.1_Silent_p.G121G|CLDN2_ENST00000336803.1_Silent_p.G121G	p.G121G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	882	+			121					B2R6B9	Silent	SNP	ENST00000541806.1	37	c.363T>G	CCDS14524.1																																																																																				0.542	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			4	72	0	0	0	0.624587	0	4	72				
SPINK4	27290	broad.mit.edu	37	9	33246623	33246623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:33246623G>A	ENST00000379721.3	+	3	157	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379725.1_Missense_Mutation_p.E61K	NM_014471.1	NP_055286.1	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	38	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GCCCATCTGTGAACACATGGT	0.577																																						ENST00000379725.1																			0				lung(1)	1						c.(181-183)Gaa>Aaa		serine peptidase inhibitor, Kazal type 4							141.0	125.0	130.0					9																	33246623		2203	4300	6503	SO:0001583	missense	27290					extracellular region	serine-type endopeptidase inhibitor activity	g.chr9:33246623G>A	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"""Serine peptidase inhibitors, Kazal type"""	16646	protein-coding gene	gene with protein product		613929	"""serine protease inhibitor, Kazal type 4"""			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379721.3:c.112G>A	9.37:g.33246623G>A	ENSP00000369045:p.Glu38Lys					SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379721.3_Missense_Mutation_p.E38K	p.E61K			O60575	ISK4_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		4	303	+			38			Kazal-like.		Q2YDT7	Missense_Mutation	SNP	ENST00000379721.3	37	c.181G>A	CCDS6536.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560067	0.86335	.	.	ENSG00000122711	ENST00000379725;ENST00000379723;ENST00000379721	T;T;T	0.74315	-0.83;-0.83;-0.83	4.84	4.84	0.62591	Proteinase inhibitor I1, Kazal (2);	0.076282	0.50627	D	0.000116	T	0.77260	0.4104	.	.	.	0.36792	D	0.884889	P	0.51240	0.943	P	0.56865	0.808	T	0.74904	-0.3505	9	0.16896	T	0.51	-30.0766	13.6415	0.62253	0.0:0.0:1.0:0.0	.	38	O60575	ISK4_HUMAN	K	61;61;38	ENSP00000369048:E61K;ENSP00000369046:E61K;ENSP00000369045:E38K	ENSP00000369045:E38K	E	+	1	0	SPINK4	33236623	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.411000	0.59781	2.692000	0.91855	0.563000	0.77884	GAA		0.577	SPINK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052035.1	NM_014471		6	139	0	0	0	0.248553	0	6	139				
TTN	7273	broad.mit.edu	37	2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:179592350A>G	ENST00000591111.1	-	66	19228	c.19004T>C	c.(19003-19005)gTt>gCt	p.V6335A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000589042.1_Missense_Mutation_p.V6652A			Q8WZ42	TITIN_HUMAN	titin	13111	Ig-like 44.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGCTACCAACATCATTGGT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19954-19956)gTt>gCt		titin							197.0	200.0	199.0					2																	179592350		2077	4220	6297	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592350A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19004T>C	2.37:g.179592350A>G	ENSP00000465570:p.Val6335Ala					TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A|TTN_ENST00000460472.2_Intron	p.V6652A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20179	-			6335			Ig-like 48.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19955T>C		.	.	.	.	.	.	.	.	.	.	A	12.02	1.811681	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44912	0.1316	N	0.02420	-0.555	0.80722	D	1	B	0.25272	0.122	B	0.20577	0.03	T	0.50021	-0.8876	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6335	Q8WZ42	TITIN_HUMAN	A	5408	ENSP00000343764:V5408A	ENSP00000343764:V5408A	V	-	2	0	TTN	179300595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.079000	0.76829	2.291000	0.77112	0.533000	0.62120	GTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		180	296	0	0	0	0.870114	0	180	296				
SOX13	9580	broad.mit.edu	37	1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:204082093G>A	ENST00000367204.1	+	2	159	c.50G>A	c.(49-51)gGc>gAc	p.G17D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	17					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGCGTTGGCACCATGGTG	0.612																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(49-51)gGc>gAc		SRY (sex determining region Y)-box 13							32.0	37.0	36.0					1																	204082093		2028	4187	6215	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204082093G>A		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.50G>A	1.37:g.204082093G>A	ENSP00000356172:p.Gly17Asp					SOX13_ENST00000367203.4_3'UTR	p.G17D	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	159	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		17					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.50G>A	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799425	0.70567	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.97870	-4.58	5.36	5.36	0.76844	.	.	.	.	.	D	0.95636	0.8581	L	0.44542	1.39	0.29308	N	0.868233	P	0.41748	0.761	B	0.40702	0.338	D	0.91426	0.5162	9	0.14252	T	0.57	.	16.8364	0.85957	0.0:0.0:1.0:0.0	.	17	Q9UN79	SOX13_HUMAN	D	17	ENSP00000356172:G17D	ENSP00000356172:G17D	G	+	2	0	SOX13	202348716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.570000	0.60872	2.504000	0.84457	0.585000	0.79938	GGC		0.612	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		4	88	0	0	0	0.150653	0	4	88				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	232	0	0	0	0.217242	0	5	232				
PROP1	5626	broad.mit.edu	37	5	177419761	177419761	+	Silent	SNP	T	T	G	rs535993919	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:177419761T>G	ENST00000308304.2	-	3	938	c.630A>C	c.(628-630)ccA>ccC	p.P210P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	210					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAGGGGGTGGGGGGCAGG	0.637													T|||	79	0.0157748	0.0197	0.0086	5008	,	,		10279	0.0139		0.007	False		,,,				2504	0.0266					ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(628-630)ccA>ccC		PROP paired-like homeobox 1																																				SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419761T>G	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.630A>C	5.37:g.177419761T>G							p.P210P	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	938	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	210						Silent	SNP	ENST00000308304.2	37	c.630A>C	CCDS4430.1																																																																																				0.637	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		5	15	0	0	0	0.479597	0	5	15				
ADCY3	109	broad.mit.edu	37	2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	934					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGTAGAAGTCAGCAAAGTTG	0.473																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2800-2802)Gac>Aac		adenylate cyclase 3							154.0	118.0	131.0					2																	25046161		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046161C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2800G>A	2.37:g.25046161C>T	ENSP00000260600:p.Asp934Asn					ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	p.D934N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3651	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		934					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2800G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665569	0.96745	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.29142	1.58;1.58	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.46819	1.47	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.803	D;D;B	0.85130	0.997;0.997;0.424	T	0.48714	-0.9011	10	0.87932	D	0	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	935;934;521	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	934;521;909	ENSP00000260600:D934N;ENSP00000384484:D521N	ENSP00000260600:D934N	D	-	1	0	ADCY3	24899665	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.604000	0.82830	2.894000	0.99253	0.655000	0.94253	GAC		0.473	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			4	103	0	0	0	0.150653	0	4	103				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	101	0	0	0	0.150653	0	4	101				
IFT140	9742	broad.mit.edu	37	16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A	rs538791217		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:1576790C>A	ENST00000426508.2	-	20	2770	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	TMEM204_ENST00000253934.5_5'Flank|IFT140_ENST00000361339.5_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	803					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCCAGACGGCCTCACTG	0.692																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2407-2409)Gtc>Ttc		intraflagellar transport 140 homolog (Chlamydomonas)							25.0	26.0	26.0					16																	1576790		2196	4299	6495	SO:0001583	missense	9742							g.chr16:1576790C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2407G>T	16.37:g.1576790C>A	ENSP00000406012:p.Val803Phe					IFT140_ENST00000361339.5_5'UTR	p.V803F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			20	2770	-		Hepatocellular(780;0.219)	803					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2407G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995461	0.93167	.	.	ENSG00000187535	ENST00000397417;ENST00000426508	T	0.54479	0.57	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.80091	-0.1527	10	0.56958	D	0.05	.	16.9718	0.86302	0.0:1.0:0.0:0.0	.	803;528	Q96RY7;B4DR58	IF140_HUMAN;.	F	803	ENSP00000406012:V803F	ENSP00000380562:V803F	V	-	1	0	IFT140	1516791	1.000000	0.71417	0.932000	0.37286	0.919000	0.55068	6.017000	0.70805	2.459000	0.83118	0.655000	0.94253	GTC		0.692	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		3	46	1	0	0.000602214	0.184627	0.000641834	3	46				
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs373357111		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AACAGCCCTGTCCCAAGGAAG	0.507																																						ENST00000411500.1																			0																																																			0							g.chr6:32521666T>C	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521666T>C								NR_001298.1						0	817	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.507	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	49	0	0	0	0.150653	0	3	49				
PI4KB	5298	broad.mit.edu	37	1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:151278805C>A	ENST00000368873.1	-	5	1385	c.1217G>T	c.(1216-1218)tGt>tTt	p.C406F	PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000368875.2_Missense_Mutation_p.C418F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	406					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGTTTTCACATTCAAGGAC	0.493																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1252-1254)tGt>tTt		phosphatidylinositol 4-kinase, catalytic, beta							57.0	55.0	56.0					1																	151278805		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278805C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1217G>T	1.37:g.151278805C>A	ENSP00000357867:p.Cys406Phe					PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F	p.C418F	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1833	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		406					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1253G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.253572	0.95336	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	T;T;T;T;T;T;T;T	0.68331	-0.31;-0.32;-0.32;-0.31;-0.24;-0.31;2.0;2.0	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	M	0.64404	1.975	0.80722	D	1	P;D;D	0.61080	0.695;0.989;0.979	P;P;P	0.59424	0.482;0.857;0.7	T	0.72434	-0.4295	10	0.48119	T	0.1	-6.4773	18.8019	0.92022	0.0:1.0:0.0:0.0	.	406;391;74	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	F	391;418;418;406;74;391;74;74	ENSP00000357868:C391F;ENSP00000357869:C418F;ENSP00000271657:C418F;ENSP00000357867:C406F;ENSP00000433149:C74F;ENSP00000357866:C391F;ENSP00000413599:C74F;ENSP00000431501:C74F	ENSP00000271657:C418F	C	-	2	0	PI4KB	149545429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.779000	0.95612	0.650000	0.86243	TGT		0.493	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		4	93	1	0	0.00024832	0.150653	0.000268186	4	93				
DNAH17	8632	broad.mit.edu	37	17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T	rs376498268		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:76563191C>T	ENST00000585328.1	-	10	1466	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V448M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	448	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCACGCACGCCCCCAAGC	0.488																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1342-1344)Gtg>Atg		dynein, axonemal, heavy chain 17		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	51.0	44.0	46.0		1342	2.9	0.0	17		46	0,8600		0,0,4300	no	missense	DNAH17	NM_173628.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/4463	76563191	1,13005	2203	4300	6503	SO:0001583	missense	8632							g.chr17:76563191C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1342G>A	17.37:g.76563191C>T	ENSP00000465516:p.Val448Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M	p.V448M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1466	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1342G>A		.	.	.	.	.	.	.	.	.	.	C	2.440	-0.328734	0.05314	2.27E-4	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55588	0.51	4.92	2.94	0.34122	.	0.483083	0.15483	N	0.259983	T	0.40498	0.1119	L	0.40543	1.245	0.09310	N	1	P	0.37101	0.582	B	0.34590	0.186	T	0.13202	-1.0518	10	0.33141	T	0.24	.	9.7175	0.40283	0.0:0.8352:0.0:0.1648	.	150	Q9UFH2-4	.	M	448	ENSP00000374490:V448M	ENSP00000300671:V448M	V	-	1	0	DNAH17	74074786	0.149000	0.22717	0.007000	0.13788	0.016000	0.09150	1.075000	0.30716	0.623000	0.30267	-0.215000	0.12644	GTG		0.488	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	13	0	0	0	0.479597	0	15	13				
PRKCQ	5588	broad.mit.edu	37	10	6498712	6498712	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:6498712C>A	ENST00000263125.5	-	15	1670	c.1571G>T	c.(1570-1572)gGa>gTa	p.G524V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTTGCACATTCCAAAATCCGC	0.443																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1570-1572)gGa>gTa		protein kinase C, theta							279.0	220.0	240.0					10																	6498712		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6498712C>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1571G>T	10.37:g.6498712C>A	ENSP00000263125:p.Gly524Val					PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V	p.G524V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			15	1670	-			524			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1571G>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.311403|3.311403	0.60414|0.60414	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|D;D;D	.|0.89415	.|-2.51;-2.51;-2.51	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96876	.|0.8980	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	.|D	.|0.98038	.|1.0380	.|10	.|0.87932	.|D	.|0	.|.	19.5077|19.5077	0.95125|0.95125	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|399;296;524;524	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	X|V	297|524;524;399	.|ENSP00000263125:G524V;ENSP00000380361:G524V;ENSP00000441752:G399V	.|ENSP00000263125:G524V	E|G	-|-	1|2	0|0	PRKCQ|PRKCQ	6538718|6538718	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.052000|0.052000	0.14988|0.14988	7.573000|7.573000	0.82421|0.82421	2.591000|2.591000	0.87537|0.87537	0.557000|0.557000	0.71058|0.71058	GAA|GGA		0.443	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		34	59	1	0	4.65686e-17	0.788014	5.38866e-17	34	59				
PTPRG	5793	broad.mit.edu	37	3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:62142813A>G	ENST00000474889.1	+	7	1132	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	252	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATTATCGGTACACAGGTTCC	0.512																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(754-756)tAc>tGc		protein tyrosine phosphatase, receptor type, G							129.0	123.0	125.0					3																	62142813		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62142813A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.755A>G	3.37:g.62142813A>G	ENSP00000418112:p.Tyr252Cys					PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	7	1132	+			252			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.755A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674267	0.88445	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.80304	-1.36;-1.36	5.8	5.8	0.92144	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.964;0.999	D	0.95403	0.8491	10	0.87932	D	0	.	16.146	0.81569	1.0:0.0:0.0:0.0	.	252;252	P23470-2;P23470	.;PTPRG_HUMAN	C	252	ENSP00000418112:Y252C;ENSP00000295874:Y252C	ENSP00000295874:Y252C	Y	+	2	0	PTPRG	62117853	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.896000	0.92521	2.216000	0.71823	0.460000	0.39030	TAC		0.512	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		7	162	0	0	0	0.248553	0	7	162				
GGNBP2	79893	broad.mit.edu	37	17	34912923	34912923	+	Splice_Site	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:34912923C>T	ENST00000304718.4	+	4	491	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	59					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCTCTTTCAGCGACATGGTAT	0.423																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.e4-1		gametogenetin binding protein 2							152.0	144.0	147.0					17																	34912923		2203	4300	6503	SO:0001630	splice_region_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34912923C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.175-1C>T	17.37:g.34912923C>T							p.R59_splice	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	491	+		Breast(25;0.00957)|Ovarian(249;0.17)	59					B2RPK7|Q96T90|Q9GZR8|Q9H767	Splice_Site	SNP	ENST00000304718.4	37	c.174_splice	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328925	0.97480	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.08	2.86	0.33363	.	0.202712	0.40554	N	0.001071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2039	13.3346	0.60509	0.3894:0.6106:0.0:0.0	.	.	.	.	X	59	.	.	R	+	1	2	GGNBP2	31987036	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.594000	0.36697	1.074000	0.40909	0.579000	0.79373	CGA		0.423	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	Nonsense_Mutation	6	179	0	0	0	0.217242	0	6	179				
SLC4A1	6521	broad.mit.edu	37	17	42340029	42340029	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:42340029G>A	ENST00000262418.6	-	3	236	c.81C>T	c.(79-81)ccC>ccT	p.P27P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	27			P -> H (in dbSNP:rs55777403). {ECO:0000269|PubMed:15489334}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(79-81)ccC>ccT		solute carrier family 4 (anion exchanger), member 1							88.0	81.0	84.0					17																	42340029		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42340029G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.81C>T	17.37:g.42340029G>A						AC003043.1_ENST00000597382.1_Intron	p.P27P	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	3	236	-		Breast(137;0.014)|Prostate(33;0.0181)	27		P -> H (in dbSNP:rs55777403).			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.81C>T	CCDS11481.1																																																																																				0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		11	27	0	0	0	0.387290	0	11	27				
LRRC14	9684	broad.mit.edu	37	8	145741718	145741718	+	5'Flank	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145741718C>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Missense_Mutation_p.R262Q|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTCCATCTCCGCTTCTCGCC	0.672																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(784-786)cGg>cAg	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							19.0	22.0	21.0					8																	145741718		2005	4169	6174	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741718C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741718C>T	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.R262Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	826	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		262					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.785G>A	CCDS6432.1																																																																																				0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		8	85	0	0	0	0.307466	0	8	85				
ABCC9	10060	broad.mit.edu	37	12	22065906	22065906	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:22065906C>T	ENST00000261201.4	-	6	910	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ABCC9_ENST00000261200.4_Missense_Mutation_p.R304H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	304	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGCCAGATAGCGGAATGTGCT	0.423																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(910-912)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						89.0	90.0	90.0					12																	22065906		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22065906C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.911G>A	12.37:g.22065906C>T	ENSP00000261201:p.Arg304His					ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H|ABCC9_ENST00000261201.4_Missense_Mutation_p.R304H	p.R304H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			6	910	-			304			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.911G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907645	0.92107	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.94457	-3.43;-3.43;-3.43	4.9	4.9	0.64082	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.953	D	0.97454	1.0030	10	0.87932	D	0	-13.1262	18.2694	0.90063	0.0:1.0:0.0:0.0	.	304;304	O60706;O60706-2	ABCC9_HUMAN;.	H	304	ENSP00000261200:R304H;ENSP00000261201:R304H;ENSP00000261202:R304H	ENSP00000261200:R304H	R	-	2	0	ABCC9	21957173	1.000000	0.71417	0.561000	0.28357	0.867000	0.49689	7.513000	0.81739	2.545000	0.85829	0.585000	0.79938	CGC		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		47	91	0	0	0	0.870114	0	47	91				
ALG1L2	644974	broad.mit.edu	37	3	129817144	129817144	+	RNA	SNP	G	G	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:129817144G>T	ENST00000507643.1	+	0	726				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TGCGGGAGTCGCAGCAGCTCT	0.527																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817144G>T	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817144G>T										C9J202	AG1L2_HUMAN			0	726	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.527	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		4	98	1	0	5.18039e-06	0.278610	5.67043e-06	4	98				
FAT3	120114	broad.mit.edu	37	11	92086739	92086739	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V|FAT3_ENST00000409404.2_Silent_p.V487V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCCCAGTGGGAACCAGCG	0.418										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(1459-1461)gtG>gtA		FAT atypical cadherin 3							75.0	73.0	74.0					11																	92086739		1930	4145	6075	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086739G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1461G>A	11.37:g.92086739G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V	p.V487V			Q8TDW7	FAT3_HUMAN			1	1478	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	487			Cadherin 5.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.1461G>A																																																																																					0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	43	0	0	0	0.557998	0	19	43				
HIF3A	64344	broad.mit.edu	37	19	46825111	46825111	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:46825111G>A	ENST00000377670.4	+	10	1254	c.1223G>A	c.(1222-1224)cGt>cAt	p.R408H	HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000339613.2_Missense_Mutation_p.R352H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H|HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|AC007193.10_ENST00000596807.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	408					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GACCCCCGCCGTTTCTGCAGC	0.692																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1054-1056)cGt>cAt		hypoxia inducible factor 3, alpha subunit							38.0	45.0	43.0					19																	46825111		2202	4297	6499	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825111G>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1223G>A	19.37:g.46825111G>A	ENSP00000366898:p.Arg408His					HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|HIF3A_ENST00000377670.4_Missense_Mutation_p.R408H|HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H|AC007193.10_ENST00000596807.1_RNA	p.R352H			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1310	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	408					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1055G>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376068	0.82682	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.67171	0.48;-0.25;0.36;0.48;-0.25	4.98	4.98	0.66077	.	0.166029	0.27092	N	0.020972	T	0.71204	0.3312	L	0.27053	0.805	0.27705	N	0.945667	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.995;0.998;0.999;0.999	P;P;D;P;P;P;D	0.76071	0.908;0.828;0.909;0.656;0.813;0.813;0.987	T	0.65487	-0.6156	10	0.51188	T	0.08	.	14.1265	0.65225	0.0:0.0:1.0:0.0	.	357;339;406;357;352;408;408	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;.;HIF3A_HUMAN;.	H	408;408;339;352;352;406;357	ENSP00000366898:R408H;ENSP00000244303:R339H;ENSP00000341877:R352H;ENSP00000300862:R406H;ENSP00000407771:R357H	ENSP00000244302:R408H	R	+	2	0	HIF3A	51516951	0.997000	0.39634	0.996000	0.52242	0.844000	0.47949	4.857000	0.62939	2.484000	0.83849	0.655000	0.94253	CGT		0.692	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			18	99	0	0	0	0.681144	0	18	99				
ZFYVE28	57732	broad.mit.edu	37	4	2306052	2306052	+	Missense_Mutation	SNP	G	G	A	rs117669252	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:2306052G>A	ENST00000290974.2	-	8	2354	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	672			S -> P (in dbSNP:rs661301). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S672L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGTGAGCCGAGGGGCTCCC	0.667													G|||	14	0.00279553	0.0068	0.0	5008	,	,		15583	0.005		0.0	False		,,,				2504	0.0					ENST00000290974.2																			1	Substitution - Missense(1)	p.S672L(1)	kidney(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2014-2016)tCg>tTg		zinc finger, FYVE domain containing 28		G	LEU/SER,LEU/SER,LEU/SER	24,4374		0,24,2175	38.0	44.0	42.0		1925,1805,2015	1.4	0.0	4	dbSNP_132	42	2,8592		0,2,4295	yes	missense,missense,missense	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	145,145,145	0,26,6470	AA,AG,GG		0.0233,0.5457,0.2001	benign,benign,benign	642/858,602/818,672/888	2306052	26,12966	2199	4297	6496	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306052G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2015C>T	4.37:g.2306052G>A	ENSP00000290974:p.Ser672Leu					ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L	p.S672L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	2354	-			672		S -> P (in dbSNP:rs661301).			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2015C>T	CCDS33942.1	9	0.004120879120879121	4	0.008130081300813009	0	0.0	5	0.008741258741258742	0	0.0	G	10.50	1.366827	0.24771	0.005457	2.33E-4	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58506	0.33;0.33;0.33	3.14	1.36	0.22044	.	3.264500	0.00799	N	0.001410	T	0.25531	0.0621	N	0.03608	-0.345	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.04013	0.001;0.0	T	0.16748	-1.0392	10	0.29301	T	0.29	.	3.7751	0.08657	0.1314:0.0:0.629:0.2396	.	642;672	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	L	672;642;602	ENSP00000290974:S672L;ENSP00000425706:S642L;ENSP00000426299:S602L	ENSP00000290974:S672L	S	-	2	0	ZFYVE28	2275850	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	0.378000	0.20569	0.359000	0.24239	0.306000	0.20318	TCG		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		125	100	0	0	0	0.870114	0	125	100				
PCDHGC5	56097	broad.mit.edu	37	5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCATCGTGCTGGACAT	0.557																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(694-696)Gtg>Atg									131.0	134.0	133.0					5																	140869501		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869501G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.694G>A	5.37:g.140869501G>A	ENSP00000252087:p.Val232Met					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V232M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	694	+			232			Cadherin 2.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.694G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528593	0.27299	.	.	ENSG00000240764	ENST00000252087	T	0.68181	-0.31	5.99	5.99	0.97316	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000120	D	0.90827	0.7119	H	0.99590	4.645	0.43703	D	0.996169	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94142	0.7398	10	0.87932	D	0	.	20.0678	0.97707	0.0:0.0:1.0:0.0	.	232;232	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	232	ENSP00000252087:V232M	ENSP00000252087:V232M	V	+	1	0	PCDHGC5	140849685	1.000000	0.71417	0.969000	0.41365	0.009000	0.06853	3.561000	0.53770	2.843000	0.97960	0.591000	0.81541	GTG		0.557	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		102	154	0	0	0	0.870114	0	102	154				
KIAA0753	9851	broad.mit.edu	37	17	6503779	6503779	+	Splice_Site	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|RNA5SP435_ENST00000364044.1_RNA	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753							centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCAGAAACACTATTTAGAAA	0.383																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.e13-1		KIAA0753							74.0	72.0	73.0					17																	6503779		1822	4086	5908	SO:0001630	splice_region_variant	9851					centrosome		g.chr17:6503779C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2010-1G>A	17.37:g.6503779C>T						KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000542606.1_Splice_Site		NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	13	2368	-								A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Splice_Site	SNP	ENST00000361413.3	37		CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590946	0.66219	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3443	0.74324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0753	6444503	0.942000	0.31987	0.988000	0.46212	0.969000	0.65631	2.617000	0.46385	2.777000	0.95525	0.591000	0.81541	.		0.383	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	Intron	46	90	0	0	0	0.870114	0	46	90				
KLHL4	56062	broad.mit.edu	37	X	86887270	86887270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:86887270T>C	ENST00000373119.4	+	7	1530	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGCACCATGAATGGCCGT	0.393																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1384-1386)aTg>aCg		kelch-like family member 4							99.0	84.0	89.0					X																	86887270		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887270T>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1385T>C	X.37:g.86887270T>C	ENSP00000362211:p.Met462Thr					KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1530	+			462					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1385T>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651443	0.67472	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.83992	-1.79;-1.79	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.979	D	0.94147	0.7402	10	0.87932	D	0	.	13.4485	0.61155	0.0:0.0:0.0:1.0	.	462;462	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	462	ENSP00000362211:M462T;ENSP00000362206:M462T	ENSP00000362206:M462T	M	+	2	0	KLHL4	86773926	1.000000	0.71417	0.913000	0.36048	0.975000	0.68041	7.531000	0.81973	1.770000	0.52166	0.412000	0.27726	ATG		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			3	43	0	0	0	0.115264	0	3	43				
HNF1A	6927	broad.mit.edu	37	12	121435350	121435350	+	Silent	SNP	C	C	T	rs544842497	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:121435350C>T	ENST00000257555.6	+	7	1609	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000541395.1_Silent_p.P461P|HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000400024.2_Silent_p.P461P|HNF1A_ENST00000402929.1_3'UTR			P20823	HNF1A_HUMAN	HNF1 homeobox A	461					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGCAGCCCGTCCAGTTCT	0.652									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CI083384	HNF1A	I		c.(1381-1383)ccC>ccT		HNF1 homeobox A							30.0	33.0	32.0					12																	121435350		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121435350C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1383C>T	12.37:g.121435350C>T						HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000400024.2_Silent_p.P461P|HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000541395.1_Silent_p.P461P	p.P461P			P20823	HNF1A_HUMAN			7	1609	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		461					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.1383C>T	CCDS9209.1																																																																																				0.652	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		27	43	0	0	0	0.693898	0	27	43				
TPM4	7171	broad.mit.edu	37	19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:16204531C>G	ENST00000300933.4	+	7	892	c.632C>G	c.(631-633)gCa>gGa	p.A211G	TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	211					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGAACGGTTGCAAAACTGGAA	0.483			T	ALK	ALCL																																	ENST00000300933.4				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(631-633)gCa>gGa		tropomyosin 4							119.0	109.0	112.0					19																	16204531		2203	4300	6503	SO:0001583	missense	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16204531C>G		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.632C>G	19.37:g.16204531C>G	ENSP00000300933:p.Ala211Gly					TPM4_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G	p.A211G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN			7	892	+			211					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	c.632C>G	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488725	0.64074	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	D;D;D	0.97430	-4.38;-4.38;-4.38	4.79	3.74	0.42951	.	0.093197	0.38897	U	0.001534	D	0.98353	0.9453	M	0.90082	3.085	0.49798	D	0.999823	D;P	0.60160	0.987;0.624	D;P	0.64410	0.925;0.516	D	0.98844	1.0756	10	0.72032	D	0.01	-4.7697	12.5674	0.56318	0.0:0.9188:0.0:0.0812	.	211;247	P67936;P67936-2	TPM4_HUMAN;.	G	247;247;211	ENSP00000345230:A247G;ENSP00000439135:A247G;ENSP00000300933:A211G	ENSP00000300933:A211G	A	+	2	0	TPM4	16065531	1.000000	0.71417	0.100000	0.21137	0.482000	0.33219	5.928000	0.70088	1.144000	0.42321	0.650000	0.86243	GCA		0.483	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		5	196	0	0	0	0.217242	0	5	196				
CDC14B	8555	broad.mit.edu	37	9	99285902	99285902	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99285902G>A	ENST00000375241.1	-	10	1503	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L|CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	351	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCCAATCACCGAGCCAGGTCT	0.537																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(1051-1053)tCg>tTg		cell division cycle 14B							90.0	79.0	83.0					9																	99285902		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285902G>A	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1052C>T	9.37:g.99285902G>A	ENSP00000364389:p.Ser351Leu					CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L	p.S351L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			10	1503	-		Acute lymphoblastic leukemia(62;0.0559)	351			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.1052C>T	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913105	0.92178	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.2	5.2	0.72013	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	.	.	.	0.80722	D	1	D;D;D	0.89917	0.976;0.992;1.0	P;P;D	0.81914	0.533;0.781;0.995	T	0.41197	-0.9522	9	0.51188	T	0.08	-2.6907	19.2944	0.94117	0.0:0.0:1.0:0.0	.	351;351;314	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	L	351;351;351;314;351;351	ENSP00000265659:S351L;ENSP00000364389:S351L;ENSP00000364388:S351L;ENSP00000364390:S314L;ENSP00000420572:S351L;ENSP00000364384:S351L	ENSP00000265659:S351L	S	-	2	0	CDC14B	98325723	1.000000	0.71417	0.968000	0.41197	0.954000	0.61252	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	TCG		0.537	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		13	136	0	0	0	0.457914	0	13	136				
ALG1L2	644974	broad.mit.edu	37	3	129817138	129817138	+	RNA	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:129817138G>A	ENST00000507643.1	+	0	720				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										AGAACCTGCGGGAGTCGCAGC	0.522																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817138G>A	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817138G>A										C9J202	AG1L2_HUMAN			0	720	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.522	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		4	105	0	0	0	0.217242	0	4	105				
FBN3	84467	broad.mit.edu	37	19	8191671	8191671	+	Missense_Mutation	SNP	C	C	T	rs367947634		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:8191671C>T	ENST00000600128.1	-	19	2756	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q			Q75N90	FBN3_HUMAN	fibrillin 3	781	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAGGTTCCGACAGACGCC	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2341-2343)cGg>cAg		fibrillin 3		T	GLN/ARG	0,4406		0,0,2203	37.0	39.0	39.0		2342	-0.2	0.0	19		39	2,8598	813.5+/-407.0	0,2,4298	no	missense	FBN3	NM_032447.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	781/2810	8191671	2,13004	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191671C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2342G>A	19.37:g.8191671C>T	ENSP00000470498:p.Arg781Gln					FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q	p.R781Q			Q75N90	FBN3_HUMAN			19	2756	-			781			EGF-like 10; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2342G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	t	3.259	-0.151643	0.06585	0.0	2.33E-4	ENSG00000142449	ENST00000270509	D	0.87179	-2.22	3.52	-0.197	0.13228	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.208119	0.41396	N	0.000891	T	0.69033	0.3066	N	0.12422	0.21	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.52609	-0.8553	10	0.13853	T	0.58	.	6.7264	0.23359	0.259:0.5771:0.0:0.1638	.	781	Q75N90	FBN3_HUMAN	Q	781	ENSP00000270509:R781Q	ENSP00000270509:R781Q	R	-	2	0	FBN3	8097671	0.424000	0.25490	0.007000	0.13788	0.000000	0.00434	0.590000	0.23954	-0.795000	0.04462	-3.002000	0.00076	CGG		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	110	0	0	0	0.150653	0	4	110				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	116	0	0	0	0.184627	0	4	116				
SV2C	22987	broad.mit.edu	37	5	75490817	75490817	+	Silent	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:75490817A>G	ENST00000502798.2	+	3	1096	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SV2C_ENST00000322285.7_Silent_p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	218					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGGAAGGAAACAGTCTCTTC	0.468																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(652-654)aaA>aaG		synaptic vesicle glycoprotein 2C							360.0	356.0	357.0					5																	75490817		1992	4147	6139	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75490817A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.654A>G	5.37:g.75490817A>G						SV2C_ENST00000322285.7_Silent_p.K218K	p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	3	1096	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	218					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.654A>G	CCDS43331.1																																																																																				0.468	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			149	249	0	0	0	0.870114	0	149	249				
SOX7	83595	broad.mit.edu	37	8	10584117	10584117	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:10584117G>A	ENST00000304501.1	-	2	376	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	SOX7_ENST00000553390.1_Missense_Mutation_p.R152W|SOX7_ENST00000554914.1_Missense_Mutation_p.R152W|CTD-2135J3.3_ENST00000506149.2_RNA|CTD-2135J3.3_ENST00000519568.1_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	100					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGCGCAGCCGCTCCGCCTCG	0.647																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(298-300)Cgg>Tgg		SRY (sex determining region Y)-box 7							46.0	49.0	48.0					8																	10584117		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10584117G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.298C>T	8.37:g.10584117G>A	ENSP00000301921:p.Arg100Trp					SOX7_ENST00000553390.1_Missense_Mutation_p.R152W|SOX7_ENST00000554914.1_Missense_Mutation_p.R152W	p.R100W	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	376	-			100					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.298C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787108	0.70337	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.98120	-4.73;-4.73;-4.73	4.85	3.9	0.45041	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98662	1.0684	10	0.87932	D	0	.	12.6608	0.56813	0.0:0.0:0.7551:0.2449	.	152;100	B4DKV0;Q9BT81	.;SOX7_HUMAN	W	100;152;152	ENSP00000301921:R100W;ENSP00000452017:R152W;ENSP00000451145:R152W	ENSP00000346908:R152W	R	-	1	2	SOX7;CTD-2135J3.4	10621527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.075000	0.30716	2.518000	0.84900	0.561000	0.74099	CGG		0.647	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			50	21	0	0	0	0.870114	0	50	21				
SPATA31D5P	347127	broad.mit.edu	37	9	84533451	84533451	+	RNA	SNP	G	G	A	rs577026113	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:84533451G>A	ENST00000527857.1	+	0	3473					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TCAGGGCAGTGGAAAGACCTT	0.478													g|||	4	0.000798722	0.003	0.0	5008	,	,		20647	0.0		0.0	False		,,,				2504	0.0					ENST00000527857.1																			0																																																			0							g.chr9:84533451G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533451G>A								NR_026851.1						0	3473	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.478	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	6	0	0	0	0.184627	0	4	6				
CES4A	283848	broad.mit.edu	37	16	67037031	67037031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:67037031C>T	ENST00000326686.5	+	6	749	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000540947.2_Missense_Mutation_p.A250V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	250						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGTGGCACCGCGTTATTCAGA	0.552																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(748-750)gCg>gTg		carboxylesterase 4A							105.0	104.0	104.0					16																	67037031		1994	4172	6166	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67037031C>T	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.749C>T	16.37:g.67037031C>T	ENSP00000314145:p.Ala250Val					CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V	p.A250V	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			6	933	+			250					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.749C>T		.	.	.	.	.	.	.	.	.	.	c	13.80	2.345883	0.41599	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.23	1.06	0.20224	Carboxylesterase, type B (1);	0.602048	0.14590	N	0.310313	T	0.61110	0.2321	L	0.46614	1.455	0.24754	N	0.992965	B;P;B;B	0.37061	0.021;0.58;0.092;0.109	B;B;B;B	0.37989	0.016;0.066;0.262;0.063	T	0.49351	-0.8949	10	0.38643	T	0.18	.	8.7425	0.34567	0.0:0.6808:0.0:0.3192	.	156;273;250;273	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	V	250;273;273;250;250;213;152;156	ENSP00000444052:A250V;ENSP00000443175:A273V;ENSP00000340714:A273V;ENSP00000381397:A250V;ENSP00000314145:A250V;ENSP00000441103:A213V;ENSP00000441907:A152V;ENSP00000441644:A156V	ENSP00000314145:A250V	A	+	2	0	CES4A	65594532	0.810000	0.29049	0.000000	0.03702	0.141000	0.21300	1.755000	0.38379	-0.002000	0.14469	0.574000	0.79327	GCG		0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		64	37	0	0	0	0.870114	0	64	37				
ITGA9	3680	broad.mit.edu	37	3	37512575	37512575	+	Missense_Mutation	SNP	G	G	A	rs201919539		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:37512575G>A	ENST00000264741.5	+	2	519	c.263G>A	c.(262-264)cGt>cAt	p.R88H	ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	88					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTAAGTGCCGTGTTCACACC	0.532																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(262-264)cGt>cAt		integrin, alpha 9							135.0	125.0	128.0					3																	37512575		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37512575G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.263G>A	3.37:g.37512575G>A	ENSP00000264741:p.Arg88His					ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H	p.R88H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	2	519	+			88					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.263G>A	CCDS2669.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.8	4.460991	0.84317	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	D;D	0.92446	-3.04;-3.04	4.97	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	M	0.66939	2.045	0.52099	D	0.999949	P;D	0.64830	0.796;0.994	B;P	0.58266	0.129;0.836	D	0.92170	0.5743	10	0.35671	T	0.21	.	12.2168	0.54410	0.0851:0.0:0.9149:0.0	.	88;88	Q13797;E9PDS3	ITA9_HUMAN;.	H	88	ENSP00000397258:R88H;ENSP00000264741:R88H	ENSP00000264741:R88H	R	+	2	0	ITGA9	37487579	1.000000	0.71417	0.778000	0.31720	0.989000	0.77384	8.548000	0.90669	1.083000	0.41159	0.563000	0.77884	CGT		0.532	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		77	124	0	0	0	0.870114	0	77	124				
BMS1	9790	broad.mit.edu	37	10	43288455	43288455	+	Missense_Mutation	SNP	G	G	A	rs200858231		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:43288455G>A	ENST00000374518.5	+	8	1015	c.952G>A	c.(952-954)Gct>Act	p.A318T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	318					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGACCCTTGCGCTCTTCCTGA	0.498																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(952-954)Gct>Act		BMS1 ribosome biogenesis factor		G	THR/ALA	0,4406		0,0,2203	127.0	128.0	128.0		952	4.8	0.9	10		128	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BMS1	NM_014753.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	318/1283	43288455	1,13005	2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43288455G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.952G>A	10.37:g.43288455G>A	ENSP00000363642:p.Ala318Thr						p.A318T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			8	1015	+			318					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.952G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	17.66	3.445464	0.63178	0.0	1.16E-4	ENSG00000165733	ENST00000374518	T	0.08720	3.06	5.66	4.76	0.60689	.	0.103098	0.64402	D	0.000003	T	0.10723	0.0262	L	0.50333	1.59	0.34218	D	0.675092	D	0.55605	0.972	B	0.43916	0.436	T	0.18650	-1.0330	10	0.87932	D	0	.	10.2809	0.43539	0.0709:0.135:0.794:0.0	.	318	Q14692	BMS1_HUMAN	T	318	ENSP00000363642:A318T	ENSP00000363642:A318T	A	+	1	0	BMS1	42608461	1.000000	0.71417	0.886000	0.34754	0.986000	0.74619	5.403000	0.66338	1.441000	0.47550	0.573000	0.79308	GCT		0.498	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	287	0	0	0	0.217242	0	6	287				
HGS	9146	broad.mit.edu	37	17	79657219	79657219	+	Silent	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:79657219C>A	ENST00000329138.4	+	6	558	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	141	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGGGCACGTCTTTCCAGAAT	0.607																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(421-423)gtC>gtA		hepatocyte growth factor-regulated tyrosine kinase substrate							112.0	97.0	102.0					17																	79657219		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79657219C>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.423C>A	17.37:g.79657219C>A							p.V141V	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	558	+	all_neural(118;0.0878)|all_lung(278;0.23)		141			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.423C>A	CCDS11784.1																																																																																				0.607	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		14	146	1	0	1.3612e-06	0.479597	1.53135e-06	14	146				
PCDHA9	9752	broad.mit.edu	37	5	140229647	140229647	+	Silent	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140229647T>C	ENST00000532602.1	+	1	2600	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.L523L|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1567-1569)Ttg>Ctg									59.0	68.0	65.0					5																	140229647		2181	4256	6437	SO:0001819	synonymous_variant	0							g.chr5:140229647T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1567T>C	5.37:g.140229647T>C						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA1_ENST00000504120.2_Intron	p.L523L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2291	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1567T>C	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	365	0	0	0	0.387290	0	7	365				
TRIOBP	11078	broad.mit.edu	37	22	38121845	38121845	+	Silent	SNP	C	C	T	rs373257196		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr22:38121845C>T	ENST00000406386.3	+	7	3537	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1094					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCAGATGCCGAGCATCAGT	0.652																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3280-3282)gcC>gcT		TRIO and F-actin binding protein		C		0,3896		0,0,1948	81.0	89.0	87.0		3282	-6.1	0.0	22		87	2,8232		0,2,4115	no	coding-synonymous	TRIOBP	NM_001039141.2		0,2,6063	TT,TC,CC		0.0243,0.0,0.0165		1094/2366	38121845	2,12128	1948	4117	6065	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121845C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3282C>T	22.37:g.38121845C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.A1094A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3537	+	Melanoma(58;0.0574)		1094					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.3282C>T	CCDS43015.1																																																																																				0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	279	0	0	0	0.248553	0	6	279				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	290	0	0	0	0.248553	0	5	290				
GRB2	2885	broad.mit.edu	37	17	73317762	73317762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:73317762C>T	ENST00000392562.1	-	5	1228	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q|GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000578961.1_Intron			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	149	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTCTATGTCCCGCAGGAATAT	0.463																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(445-447)cGg>cAg		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)						102.0	99.0	100.0					17																	73317762		2203	4300	6503	SO:0001583	missense	0				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73317762C>T		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.446G>A	17.37:g.73317762C>T	ENSP00000376345:p.Arg149Gln					GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q|GRB2_ENST00000462266.1_5'UTR	p.R149Q			P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		5	1228	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		149			SH2.		P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	c.446G>A	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630366	0.87660	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;D;D	0.82344	1.73;1.73;1.73;-1.6;-1.6	5.7	5.7	0.88788	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	L	0.50919	1.6	0.80722	D	1	P;P	0.38767	0.532;0.646	B;B	0.29440	0.102;0.043	T	0.75852	-0.3171	10	0.23891	T	0.37	-31.7926	19.8481	0.96728	0.0:1.0:0.0:0.0	.	108;149	P62993-2;P62993	.;GRB2_HUMAN	Q	149;149;149;108;108	ENSP00000339007:R149Q;ENSP00000376345:R149Q;ENSP00000376347:R149Q;ENSP00000376346:R108Q;ENSP00000317360:R108Q	ENSP00000317360:R108Q	R	-	2	0	GRB2	70829357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.705000	0.92388	0.650000	0.86243	CGG		0.463	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			8	96	0	0	0	0.278610	0	8	96				
ZFAT	57623	broad.mit.edu	37	8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:135614479T>C	ENST00000377838.3	-	6	1657	c.1483A>G	c.(1483-1485)Aac>Gac	p.N495D	ZFAT_ENST00000520727.1_Missense_Mutation_p.N483D|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	495					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGCTCTGGTTGATGGAACTG	0.607																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1447-1449)Aac>Gac		zinc finger and AT hook domain containing							29.0	31.0	30.0					8																	135614479		1995	4163	6158	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614479T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1483A>G	8.37:g.135614479T>C	ENSP00000367069:p.Asn495Asp					ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D	p.N483D	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1746	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		495					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1447A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825458	0.71143	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	6.04	4.9	0.64082	.	0.051299	0.85682	D	0.000000	T	0.05914	0.0154	L	0.32530	0.975	0.41139	D	0.985944	P;P;B;B	0.40360	0.714;0.533;0.202;0.076	B;B;B;B	0.30251	0.113;0.094;0.097;0.021	T	0.39231	-0.9624	10	0.39692	T	0.17	-48.3966	10.9172	0.47144	0.0:0.0723:0.0:0.9277	.	433;483;483;495	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	D	483;483;483;495;483;433;483	ENSP00000427879:N483D;ENSP00000427831:N483D;ENSP00000394501:N483D;ENSP00000367069:N495D;ENSP00000428483:N483D;ENSP00000429091:N433D	ENSP00000367069:N495D	N	-	1	0	ZFAT	135683661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.157000	0.64911	2.317000	0.78254	0.460000	0.39030	AAC		0.607	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	118	0	0	0	0.150653	0	4	118				
NYNRIN	57523	broad.mit.edu	37	14	24877239	24877239	+	Silent	SNP	C	C	T	rs189369960	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:24877239C>T	ENST00000382554.3	+	3	681	c.363C>T	c.(361-363)ggC>ggT	p.G121G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	121					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGATGGTGGGCGGGCTGACTG	0.667													C|||	9	0.00179712	0.0061	0.0	5008	,	,		15921	0.0		0.001	False		,,,				2504	0.0					ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(361-363)ggC>ggT		NYN domain and retroviral integrase containing		C		14,4138		0,14,2062	57.0	64.0	62.0		363	-5.7	0.9	14		62	0,8402		0,0,4201	no	coding-synonymous	NYNRIN	NM_025081.2		0,14,6263	TT,TC,CC		0.0,0.3372,0.1115		121/1899	24877239	14,12540	2076	4201	6277	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877239C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.363C>T	14.37:g.24877239C>T							p.G121G	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	681	+			121					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.363C>T	CCDS45090.1																																																																																				0.667	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			5	127	0	0	0	0.248553	0	5	127				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	359	0	0	0	0.624587	0	12	359				
ALG1L2	644974	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:129817127A>C	ENST00000507643.1	+	0	709				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CCAGTTCCGGAAGAACCTGCG	0.522																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817127A>C	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817127A>C										C9J202	AG1L2_HUMAN			0	709	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.522	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		4	112	0	0	0	0.248553	0	4	112				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	45	0	0	0	0.150653	0	4	45				
MUC17	140453	broad.mit.edu	37	7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:100678305C>T	ENST00000306151.4	+	3	3672	c.3608C>T	c.(3607-3609)aCt>aTt	p.T1203I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1203	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCAACTGCTGAAGTT	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3607-3609)aCt>aTt		mucin 17, cell surface associated							304.0	272.0	283.0					7																	100678305		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678305C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3608C>T	7.37:g.100678305C>T	ENSP00000302716:p.Thr1203Ile						p.T1203I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3672	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1203			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3608C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789748	0.02884	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.838	0.838	0.18902	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.50457	-0.8826	9	0.33940	T	0.23	.	4.8315	0.13443	0.0:0.6008:0.3992:0.0	.	1203	Q685J3	MUC17_HUMAN	I	1203	ENSP00000302716:T1203I	ENSP00000302716:T1203I	T	+	2	0	MUC17	100465025	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.704000	0.25661	0.790000	0.33803	0.134000	0.15878	ACT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	626	0	0	0	0.575678	0	19	626				
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597.0	514.0	540.0					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	981	0	0	0	0.184627	0	7	981				
TOP1MT	116447	broad.mit.edu	37	8	144398199	144398199	+	Silent	SNP	G	G	A	rs372788685		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:144398199G>A	ENST00000329245.4	-	11	1462	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	AC087793.1_ENST00000585120.1_RNA|TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000523676.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	476					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCGACTTCTCGAACGTACTGG	0.607																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1132-1134)ttC>ttT		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)	A		0,4406		0,0,2203	170.0	157.0	161.0		1428	-6.5	0.0	8		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TOP1MT	NM_052963.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		476/602	144398199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144398199G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1428C>T	8.37:g.144398199G>A						TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F|TOP1MT_ENST00000329245.4_Silent_p.F476F	p.F378F			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		12	1539	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		476					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.1134C>T	CCDS6400.1																																																																																				0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		7	380	0	0	0	0.278610	0	7	380				
EFS	10278	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1021-1023)ccA>ccC		embryonal Fyn-associated substrate							32.0	33.0	33.0					14																	23828664		1974	3869	5843	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828664T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1023A>C	14.37:g.23828664T>G						EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	p.P341P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1630	-	all_cancers(95;7.12e-06)		341			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1023A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			12	63	0	0	0	0.608945	0	12	63				
CPXM1	56265	broad.mit.edu	37	20	2774864	2774864	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr20:2774864A>G	ENST00000380605.2	-	14	2241	c.2177T>C	c.(2176-2178)cTg>cCg	p.L726P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	726					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TAGCCGCTCCAGGCGCCTGCG	0.627																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2176-2178)cTg>cCg		carboxypeptidase X (M14 family), member 1							37.0	42.0	40.0					20																	2774864		2202	4299	6501	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774864A>G	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2177T>C	20.37:g.2774864A>G	ENSP00000369979:p.Leu726Pro						p.L726P	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			14	2241	-			726					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.2177T>C	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681222	0.68042	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	D	0.95690	-3.78	5.65	4.55	0.56014	Carboxypeptidase-like, regulatory domain (1);	0.391760	0.25500	N	0.030248	D	0.92401	0.7588	L	0.46157	1.445	0.58432	D	0.999997	B	0.11235	0.004	B	0.10450	0.005	D	0.88640	0.3175	10	0.59425	D	0.04	-15.1431	9.9535	0.41653	0.9192:0.0:0.0808:0.0	.	726	Q96SM3	CPXM1_HUMAN	P	726;422	ENSP00000369979:L726P	ENSP00000369979:L726P	L	-	2	0	CPXM1	2722864	1.000000	0.71417	0.922000	0.36590	0.894000	0.52154	4.283000	0.58977	1.075000	0.40932	0.533000	0.62120	CTG		0.627	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		7	137	0	0	0	0.248553	0	7	137				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		6	109	0	0	0	0.361761	0	6	109				
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T597P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1789-1791)Acc>Ccc		proteoglycan 4							87.0	83.0	85.0					1																	186276640		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276640A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1789A>C	1.37:g.186276640A>C	ENSP00000399679:p.Thr597Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	p.T597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1834	+			597			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1789A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	1.907	-0.451678	0.04572	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04360	3.64;3.75;3.64;3.73	2.4	-2.78	0.05859	.	0.762931	0.10621	N	0.653340	T	0.01189	0.0039	N	0.00465	-1.465	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47736	-0.9094	9	.	.	.	.	7.4224	0.27079	0.6922:0.2055:0.0:0.1023	.	463;504;597;556	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	554;463;556;504;597	ENSP00000356456:T554P;ENSP00000356453:T556P;ENSP00000356455:T504P;ENSP00000399679:T597P	.	T	+	1	0	PRG4	184543263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-1.097000	0.03042	-4.201000	0.00009	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	197	0	0	0	0.654019	0	8	197				
AGFG1	3267	broad.mit.edu	37	2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:228388627G>A	ENST00000310078.8	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	176					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTAAATAAGGGCACACCTAG	0.433																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(526-528)Ggc>Agc		ArfGAP with FG repeats 1							124.0	115.0	118.0					2																	228388627		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228388627G>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.526G>A	2.37:g.228388627G>A	ENSP00000312059:p.Gly176Ser					AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S	p.G176S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN			4	786	+			176					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.526G>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	8.788	0.929814	0.18131	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.21191	2.1;2.03;2.07;2.08;2.02	5.83	5.83	0.93111	.	0.106287	0.64402	D	0.000005	T	0.13798	0.0334	N	0.17474	0.49	0.49687	D	0.999817	B;B;B;B	0.31077	0.307;0.007;0.007;0.002	B;B;B;B	0.30179	0.112;0.006;0.004;0.002	T	0.04320	-1.0960	10	0.02654	T	1	-3.2954	20.1133	0.97917	0.0:0.0:1.0:0.0	.	176;176;176;176	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	S	176;161;176;176;176;176;98	ENSP00000387282:G176S;ENSP00000312059:G176S;ENSP00000387154:G176S;ENSP00000362775:G176S;ENSP00000387218:G176S	ENSP00000312059:G176S	G	+	1	0	AGFG1	228096871	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.604000	0.74150	2.762000	0.94881	0.591000	0.81541	GGC		0.433	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		23	173	0	0	0	0.654019	0	23	173				
EFS	10278	broad.mit.edu	37	14	23828670	23828670	+	Silent	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828670T>G	ENST00000216733.3	-	4	1624	c.1017A>C	c.(1015-1017)ccA>ccC	p.P339P	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.P246P|EFS_ENST00000429593.2_Silent_p.P170P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	339	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGTGGGGGTGGGGGCAGAG	0.697																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1015-1017)ccA>ccC		embryonal Fyn-associated substrate							29.0	30.0	30.0					14																	23828670		1964	3855	5819	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828670T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1017A>C	14.37:g.23828670T>G						EFS_ENST00000351354.3_Silent_p.P246P|EFS_ENST00000429593.2_Silent_p.P170P	p.P339P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1624	-	all_cancers(95;7.12e-06)		339			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1017A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			11	60	0	0	0	0.557998	0	11	60				
ENPP2	5168	broad.mit.edu	37	8	120608106	120608106	+	Intron	SNP	G	G	A	rs142695308	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:120608106G>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000259486.6_Missense_Mutation_p.A370V|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000427067.2_Intron	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443													G|||	10	0.00199681	0.0	0.0144	5008	,	,		19590	0.0		0.0	False		,,,				2504	0.0				Melanoma(20;305 879 2501 4818 31020)	ENST00000259486.6																			1	Substitution - Missense(1)	p.A370V(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1108-1110)gCg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	150.0	150.0	150.0		,,1109	5.2	1.0	8	dbSNP_134	150	0,8600		0,0,4300	yes	intron,intron,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,370/916	120608106	1,13005	2203	4300	6503	SO:0001627	intron_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120608106G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2006C>T	8.37:g.120608106G>A						ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000522826.1_Intron	p.A370V	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1158	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		324					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1109C>T	CCDS34936.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	G	15.06	2.719777	0.48728	2.27E-4	0.0	ENSG00000136960	ENST00000259486	T	0.71461	-0.57	6.07	5.15	0.70609	.	0.187300	0.26304	N	0.025141	T	0.47893	0.1470	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46762	-0.9168	9	0.17832	T	0.49	.	12.505	0.55975	0.0829:0.0:0.9171:0.0	.	370	Q13822-2	.	V	370	ENSP00000259486:A370V	ENSP00000259486:A370V	A	-	2	0	ENPP2	120677287	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.626000	0.46460	1.443000	0.47586	0.655000	0.94253	GCG		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			19	540	0	0	0	0.639603	0	19	540				
HSD17B3	3293	broad.mit.edu	37	9	99013718	99013718	+	Silent	SNP	G	G	A	rs115684579	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99013718G>A	ENST00000375263.3	-	5	482	c.435C>T	c.(433-435)aaC>aaT	p.N145N	RP11-240L7.4_ENST00000448857.1_RNA|HSD17B3_ENST00000375262.2_Silent_p.N145N|HSD17B3_ENST00000464104.1_5'Flank	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	145					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CATCCGGTGCGTTCAGGAAAT	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21229	0.0		0.0	False		,,,				2504	0.0					ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(433-435)aaC>aaT		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)	G		1,4405	4.2+/-10.8	0,1,2202	110.0	95.0	100.0		435	-8.6	0.0	9	dbSNP_132	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HSD17B3	NM_000197.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		145/311	99013718	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99013718G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.435C>T	9.37:g.99013718G>A						HSD17B3_ENST00000375262.2_Silent_p.N145N	p.N145N	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			5	482	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	145					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.435C>T	CCDS6716.1																																																																																				0.478	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		41	53	0	0	0	0.870114	0	41	53				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			6	11						6	11	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			9	46						9	46	---	---	---	---
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			7	41						7	41	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-	rs7437875	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)gaafs	p.E548fs	CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1642-1644)aafs		complement factor I							206.0	217.0	214.0					4																	110662159		2203	4300	6503	SO:0001589	frameshift_variant	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662159delC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1642delG	4.37:g.110662159delC	ENSP00000378130:p.Glu548fs					CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	p.E548fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1849	-		Hepatocellular(203;0.217)	548			Peptidase S1.		O60442	Frame_Shift_Del	DEL	ENST00000394634.2	37	c.1642delG	CCDS34049.1																																																																																				0.463	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		7	746						7	746	---	---	---	---
LOC728554	728554	broad.mit.edu	37	5	177310522	177310522	+	RNA	DEL	G	G	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:177310522delG	ENST00000506672.1	+	0	964					NR_003615.2																						ctctgtgcctgggggttctct	0.478																																						ENST00000506672.1																			0																																																			0							g.chr5:177310522delG																													5.37:g.177310522delG								NR_003615.2						0	964	+									RNA	DEL	ENST00000506672.1	37																																																																																						0.478	RP11-423H2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373226.1			3	5						3	5	---	---	---	---
HLA-F-AS1	285830	broad.mit.edu	37	6	29709414	29709414	+	RNA	DEL	A	A	-	rs147024472		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:29709414delA	ENST00000458236.1	-	0	349									HLA-F antisense RNA 1																		tagtttccccatttcatagat	0.458																																						ENST00000458236.1																			0																																																			0							g.chr6:29709414delA	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29709414delA														0	349	-									RNA	DEL	ENST00000458236.1	37																																																																																						0.458	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		4	8						4	8	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		21	46						21	46	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			4	6						4	6	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	850						7	850	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	3	5						3	5	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		9	221						9	221	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)ttfs		Fas cell surface death receptor							338.0	365.0	356.0					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			7	831						7	831	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:62299465_62299466insA	ENST00000378024.4	-	5	2697_2698	c.2423_2424insT	c.(2422-2424)atgfs	p.M808fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	808					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCAGGCATCTTAAACTT	0.46																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2422-2424)accfs		AHNAK nucleoprotein																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299465_62299466insA	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2424dupT	11.37:g.62299466_62299466dupA	ENSP00000367263:p.Met808fs					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T808fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2697_2698	-		Melanoma(852;0.155)	808					A1A586	Frame_Shift_Ins	INS	ENST00000378024.4	37	c.2423_2424insT	CCDS31584.1																																																																																				0.460	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		16	429						16	429	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48788406	48788407	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr15:48788406_48788407insA	ENST00000316623.5	-	20	2764_2765	c.2309_2310insT	c.(2308-2310)gtafs	p.V770fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	770	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTGTTCAGTACACATTCATT	0.351																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(2308-2310)gctfs		fibrillin 1																																				SO:0001589	frameshift_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48788406_48788407insA	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2310dupT	15.37:g.48788407_48788407dupA	ENSP00000325527:p.Val770fs						p.A770fs	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	20	2764_2765	-		all_lung(180;0.00279)	770			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Ins	INS	ENST00000316623.5	37	c.2309_2310insT	CCDS32232.1																																																																																				0.351	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			76	101						76	101	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3647657	3647657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:3647657delG	ENST00000294008.3	-	7	2046	c.1406delC	c.(1405-1407)ccafs	p.P469fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	469	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TAACAACAATGGGGGGGATAC	0.547								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1405-1407)cafs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							62.0	73.0	69.0					16																	3647657		2197	4300	6497	SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3647657delG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1406delC	16.37:g.3647657delG	ENSP00000294008:p.Pro469fs						p.P469fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			7	2046	-			469			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Del	DEL	ENST00000294008.3	37	c.1406delC	CCDS10506.2																																																																																				0.547	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		7	451						7	451	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	419						7	419	---	---	---	---
IGHV1OR16-2	28314	broad.mit.edu	37	16	32989803	32989804	+	RNA	INS	-	-	T	rs560724499	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:32989803_32989804insT	ENST00000567619.1	-	0	499																											CTGAAGGATCATTTTTTTGGTG	0.475																																						ENST00000567619.1																			0																																																			0							g.chr16:32989803_32989804insT																													16.37:g.32989810_32989810dupT														0	499	-									RNA	INS	ENST00000567619.1	37																																																																																						0.475	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			11	56						11	56	---	---	---	---
HIC1	3090	broad.mit.edu	37	17	1960405	1960407	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:1960405_1960407delGGC	ENST00000322941.3	+	2	478_480	c.478_480delGGC	c.(478-480)ggcdel	p.G167del	HIC1_ENST00000399849.3_In_Frame_Del_p.G148del|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	167	Mediates HDAC-dependent transcriptional repression.|Poly-Gly.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCACCTGCGGggcggcggcggcg	0.764																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(421-423)del		hypermethylated in cancer 1																																				SO:0001651	inframe_deletion	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960405_1960407delGGC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.478_480delGGC	17.37:g.1960414_1960416delGGC	ENSP00000314080:p.Gly167del					HIC1_ENST00000322941.3_In_Frame_Del_p.G167del	p.G148del	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	581_583	+			167					D3DTI4	In_Frame_Del	DEL	ENST00000322941.3	37	c.421_423delGGC	CCDS42229.1																																																																																				0.764	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		6	8						6	8	---	---	---	---
ECSIT	51295	broad.mit.edu	37	19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:11618821delG	ENST00000270517.7	-	5	916	c.781delC	c.(781-783)cagfs	p.Q261fs	ZNF653_ENST00000293771.5_5'Flank|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(781-783)agfs		ECSIT signalling integrator							93.0	102.0	99.0					19																	11618821		2203	4300	6503	SO:0001589	frameshift_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618821delG	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.781delC	19.37:g.11618821delG	ENSP00000270517:p.Gln261fs					ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs	p.Q261fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			5	916	-			261					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Del	DEL	ENST00000270517.7	37	c.781delC	CCDS12262.1																																																																																				0.582	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		7	266						7	266	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330968_33330970delTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	172						7	172	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	61						7	61	---	---	---	---
