#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
CXADRP3	440224	broad.mit.edu	37	18	14478155	14478155	+	lincRNA	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:14478155C>T	ENST00000581457.1	-	0	1753					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		ACAGATGAGACGTATGGAGGC	0.413																																						ENST00000581457.1																			0																																																			0							g.chr18:14478155C>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478155C>T								NR_024076.1						0	1753	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.413	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		8	18	0	0	0	1	0	8	18				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	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		3	44	0	0	0	1	0	3	44				
CNTNAP5	129684	broad.mit.edu	37	2	125547539	125547539	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:125547539G>C	ENST00000431078.1	+	18	3174	c.2810G>C	c.(2809-2811)gGa>gCa	p.G937A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	937	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTTGAATGGACAGAAAATG	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2809-2811)gGa>gCa		contactin associated protein-like 5							64.0	65.0	65.0					2																	125547539		2059	4210	6269	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547539G>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2810G>C	2.37:g.125547539G>C	ENSP00000399013:p.Gly937Ala						p.G937A	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3174	+			937			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2810G>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870686	0.91587	.	.	ENSG00000155052	ENST00000431078	T	0.47528	0.84	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	D	0.000086	T	0.76912	0.4054	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82904	-0.0226	10	0.87932	D	0	.	18.1624	0.89712	0.0:0.0:1.0:0.0	.	937	Q8WYK1	CNTP5_HUMAN	A	937	ENSP00000399013:G937A	ENSP00000399013:G937A	G	+	2	0	CNTNAP5	125264009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.705000	0.98719	2.619000	0.88677	0.655000	0.94253	GGA		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	30	0	0	0	1	0	15	30				
CREBBP	1387	broad.mit.edu	37	16	3789628	3789628	+	Missense_Mutation	SNP	C	C	G	rs201983874		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:3789628C>G	ENST00000262367.5	-	25	5040	c.4231G>C	c.(4231-4233)Gga>Cga	p.G1411R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1411	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G1411R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGTGCATTCCAAAAAAGCAG	0.488			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.G1411R(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4231-4233)Gga>Cga		CREB binding protein							91.0	83.0	85.0					16																	3789628		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789628C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4231G>C	16.37:g.3789628C>G	ENSP00000262367:p.Gly1411Arg					CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R	p.G1411R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	5040	-		Ovarian(90;0.0266)	1411			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4231G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.323305	0.81580	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.96651	-4.08;-4.08	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99490	1.0950	10	0.87932	D	0	-11.6915	19.4402	0.94817	0.0:1.0:0.0:0.0	.	1441;1411	Q4LE28;Q92793	.;CBP_HUMAN	R	1411;1441;1373	ENSP00000262367:G1411R;ENSP00000371502:G1373R	ENSP00000262367:G1411R	G	-	1	0	CREBBP	3729629	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.713000	0.84693	2.665000	0.90641	0.561000	0.74099	GGA		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		15	36	0	0	0	1	0	15	36				
ARHGEF1	9138	broad.mit.edu	37	19	42406041	42406041	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:42406041G>A	ENST00000354532.3	+	15	1420	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L	ARHGEF1_ENST00000378152.4_Silent_p.L406L|ARHGEF1_ENST00000599846.1_Silent_p.L480L|ARHGEF1_ENST00000337665.4_Silent_p.L439L|ARHGEF1_ENST00000347545.4_Silent_p.L391L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	424	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGCAGAGCTGCTGGTGACAG	0.627																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1438-1440)ctG>ctA		Rho guanine nucleotide exchange factor (GEF) 1							42.0	36.0	38.0					19																	42406041		2203	4300	6503	SO:0001819	synonymous_variant	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406041G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1272G>A	19.37:g.42406041G>A						ARHGEF1_ENST00000337665.4_Silent_p.L439L|ARHGEF1_ENST00000354532.3_Silent_p.L424L|ARHGEF1_ENST00000347545.4_Silent_p.L391L|ARHGEF1_ENST00000378152.4_Silent_p.L406L	p.L480L			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	16	1565	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	424			DH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.1440G>A	CCDS12591.1																																																																																				0.627	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		9	12	0	0	0	1	0	9	12				
KRTAP9-8	83901	broad.mit.edu	37	17	39394482	39394482	+	Missense_Mutation	SNP	T	T	C	rs201454642	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:39394482T>C	ENST00000254072.6	+	1	186	c.179T>C	c.(178-180)aTc>aCc	p.I60T		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	60	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCATCTGTGTGACC	0.637																																						ENST00000254072.6																			0				lung(8)|ovary(1)|prostate(1)	10						c.(178-180)aTc>aCc		keratin associated protein 9-8							66.0	70.0	69.0					17																	39394482		2095	4300	6395	SO:0001583	missense	83901					keratin filament		g.chr17:39394482T>C	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.179T>C	17.37:g.39394482T>C	ENSP00000254072:p.Ile60Thr						p.I60T	NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	186	+		Breast(137;0.000496)	60			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.179T>C	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	0.647	-0.811004	0.02798	.	.	ENSG00000187272	ENST00000254072	T	0.01133	5.29	1.95	-0.627	0.11541	.	.	.	.	.	T	0.00356	0.0011	N	0.00317	-1.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42258	-0.9462	9	0.07325	T	0.83	.	4.3172	0.10998	0.0:0.4353:0.2701:0.2946	.	60	Q9BYQ0	KRA98_HUMAN	T	60	ENSP00000254072:I60T	ENSP00000254072:I60T	I	+	2	0	KRTAP9-8	36648008	0.923000	0.31300	0.001000	0.08648	0.728000	0.41692	0.168000	0.16622	-0.564000	0.06070	-0.665000	0.03846	ATC		0.637	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			4	87	0	0	0	1	0	4	87				
UGT2B11	10720	broad.mit.edu	37	4	70074085	70074085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:70074085G>A	ENST00000446444.1	-	3	994	c.986C>T	c.(985-987)gCc>gTc	p.A329V	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	329					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGATCTTGGCAAGGGCTGT	0.423																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(985-987)gCc>gTc		UDP glucuronosyltransferase 2 family, polypeptide B11							170.0	155.0	160.0					4																	70074085		2203	4297	6500	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70074085G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.986C>T	4.37:g.70074085G>A	ENSP00000387683:p.Ala329Val					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.A329V	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			3	994	-			329					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.986C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	10.73	1.433543	0.25813	.	.	ENSG00000213759	ENST00000446444	T	0.63913	-0.07	1.96	1.96	0.26148	.	0.334903	0.25984	U	0.027047	T	0.78742	0.4331	H	0.95151	3.63	0.22581	N	0.998966	D	0.65815	0.995	P	0.59115	0.852	T	0.69000	-0.5261	10	0.87932	D	0	.	6.4306	0.21794	0.0:0.3109:0.6891:0.0	.	329	O75310	UDB11_HUMAN	V	329	ENSP00000387683:A329V	ENSP00000387683:A329V	A	-	2	0	UGT2B11	70108674	0.653000	0.27358	0.977000	0.42913	0.013000	0.08279	2.857000	0.48349	1.087000	0.41251	0.184000	0.17185	GCC		0.423	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		8	266	0	0	0	1	0	8	266				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	63	0	0	0	1	0	3	63				
CACNA1D	776	broad.mit.edu	37	3	53757877	53757877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:53757877G>A	ENST00000350061.5	+	14	2462	c.1951G>A	c.(1951-1953)Gct>Act	p.A651T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A651T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A671T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	651					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGTCCATCGCTTCGCTGTT	0.443																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2011-2013)Gct>Act		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						192.0	172.0	179.0					3																	53757877		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757877G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1951G>A	3.37:g.53757877G>A	ENSP00000288133:p.Ala651Thr					CACNA1D_ENST00000422281.2_Missense_Mutation_p.A651T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A651T	p.A671T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2129	+			651					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2011G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936267	0.97122	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.993;1.0	D;D;P;D	0.79784	0.993;0.946;0.842;0.991	D	0.99806	1.1038	10	0.87932	D	0	.	20.417	0.99027	0.0:0.0:1.0:0.0	.	651;344;651;671	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	651;671;651;344	ENSP00000288133:A651T;ENSP00000288139:A671T;ENSP00000409174:A651T;ENSP00000418014:A344T	ENSP00000288139:A671T	A	+	1	0	CACNA1D	53732917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	GCT		0.443	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	120	0	0	0	1	0	4	120				
SF3B3	23450	broad.mit.edu	37	16	70564682	70564682	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:70564682G>A	ENST00000302516.5	+	4	643	c.432G>A	c.(430-432)ttG>ttA	p.L144L	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	144					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTATATTTTGAACAGAGATG	0.408																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(430-432)ttG>ttA		splicing factor 3b, subunit 3, 130kDa							164.0	162.0	163.0					16																	70564682		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70564682G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.432G>A	16.37:g.70564682G>A							p.L144L	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			4	643	+		Ovarian(137;0.0694)	144					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.432G>A	CCDS10894.1																																																																																				0.408	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		47	87	0	0	0	1	0	47	87				
DNAH10	196385	broad.mit.edu	37	12	124293451	124293451	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:124293451T>C	ENST00000409039.3	+	18	2766	c.2741T>C	c.(2740-2742)aTc>aCc	p.I914T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	914	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAAATGAGATCGACAAGATG	0.488																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2740-2742)aTc>aCc		dynein, axonemal, heavy chain 10							323.0	276.0	292.0					12																	124293451		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124293451T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2741T>C	12.37:g.124293451T>C	ENSP00000386770:p.Ile914Thr						p.I914T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	18	2766	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		914			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2741T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390524	0.82902	.	.	ENSG00000197653	ENST00000409039	T	0.24908	1.83	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.38585	0.1046	M	0.62209	1.925	0.45806	D	0.998681	P;B;P	0.49358	0.684;0.275;0.923	B;B;P	0.50440	0.409;0.126;0.641	T	0.08785	-1.0705	10	0.36615	T	0.2	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	914;789;914	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	T	914	ENSP00000386770:I914T	ENSP00000386770:I914T	I	+	2	0	DNAH10	122859404	1.000000	0.71417	0.987000	0.45799	0.591000	0.36615	7.860000	0.86993	2.184000	0.69523	0.533000	0.62120	ATC		0.488	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	203	0	0	0	1	0	6	203				
DCLRE1A	9937	broad.mit.edu	37	10	115610018	115610018	+	Silent	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:115610018T>C	ENST00000361384.2	-	2	1763	c.846A>G	c.(844-846)gaA>gaG	p.E282E	DCLRE1A_ENST00000369305.1_Silent_p.E282E|DCLRE1A_ENST00000476112.1_5'Flank	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	282					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AATTTATGTGTTCTGAGTTGT	0.378								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(844-846)gaA>gaG	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							106.0	101.0	102.0					10																	115610018		2203	4300	6503	SO:0001819	synonymous_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610018T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.846A>G	10.37:g.115610018T>C						DCLRE1A_ENST00000369305.1_Silent_p.E282E	p.E282E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1763	-			282					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	c.846A>G	CCDS7584.1																																																																																				0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		3	95	0	0	0	1	0	3	95				
RASGRP1	10125	broad.mit.edu	37	15	38852091	38852091	+	Missense_Mutation	SNP	C	C	T	rs370888491		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:38852091C>T	ENST00000310803.5	-	2	328	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	51					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCCAGAGACACCATCATTCGG	0.527																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(151-153)Gtg>Atg		RAS guanyl releasing protein 1 (calcium and DAG-regulated)		C	MET/VAL,MET/VAL	1,3921		0,1,1960	77.0	81.0	80.0		151,151	4.1	1.0	15		80	1,8317		0,1,4158	no	missense,missense	RASGRP1	NM_001128602.1,NM_005739.3	21,21	0,2,6118	TT,TC,CC		0.012,0.0255,0.0163	benign,benign	51/763,51/798	38852091	2,12238	1961	4159	6120	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38852091C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.151G>A	15.37:g.38852091C>T	ENSP00000310244:p.Val51Met					RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M	p.V51M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	328	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	51					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.151G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	2.056	-0.416492	0.04766	2.55E-4	1.2E-4	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.78707	1.52;1.52;-1.2;1.52	4.97	4.05	0.47172	Ras guanine nucleotide exchange factor, domain (1);	0.142736	0.64402	N	0.000013	T	0.52175	0.1718	N	0.11560	0.145	0.35301	D	0.783015	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.52830	-0.8523	10	0.02654	T	1	-21.5257	8.5533	0.33465	0.0:0.7863:0.0:0.2137	.	51;51	O95267;O95267-2	GRP1_HUMAN;.	M	51;51;51;51;3;51;51	ENSP00000310244:V51M;ENSP00000388540:V51M;ENSP00000444762:V3M;ENSP00000413105:V51M	ENSP00000310244:V51M	V	-	1	0	RASGRP1	36639383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.244000	0.51399	2.741000	0.93983	0.655000	0.94253	GTG		0.527	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		7	29	0	0	0	1	0	7	29				
TRBV11-1	28582	broad.mit.edu	37	7	142224222	142224222	+	RNA	SNP	C	C	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:142224222C>A	ENST00000390367.3	-	0	62									T cell receptor beta variable 11-1																		GACACACCTGCCCCCAGGAGA	0.498																																						ENST00000390367.3																			0																				53.0	54.0	54.0					7																	142224222		1949	4153	6102			0							g.chr7:142224222C>A	M33233		7q34	2012-02-07			ENSG00000211720	ENSG00000211720		"""T cell receptors / TRB locus"""	12180	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV111, TCRBV11S1, TCRBV21S1			OTTHUMG00000158505		7.37:g.142224222C>A														0	62	-									RNA	SNP	ENST00000390367.3	37																																																																																						0.498	TRBV11-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351211.1	NG_001333		13	22	1	0	1.49906e-05	1	1.54518e-05	13	22				
ATP6AP1	537	broad.mit.edu	37	X	153660193	153660193	+	Silent	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:153660193C>T	ENST00000369762.2	+	3	367	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	102					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGAGGATTTCACAGCATATG	0.552											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(304-306)ttC>ttT		ATPase, H+ transporting, lysosomal accessory protein 1							269.0	232.0	245.0					X																	153660193		2203	4300	6503	SO:0001819	synonymous_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153660193C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.306C>T	X.37:g.153660193C>T			OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757	ATP6AP1_ENST00000484908.1_3'UTR	p.F102F	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			3	367	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		102					A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	c.306C>T	CCDS35451.1																																																																																				0.552	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		18	367	0	0	0	1	0	18	367				
SMG1	23049	broad.mit.edu	37	16	18863478	18863478	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:18863478T>C	ENST00000446231.2	-	33	5375	c.4963A>G	c.(4963-4965)Aat>Gat	p.N1655D	SMG1_ENST00000389467.3_Missense_Mutation_p.N1655D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1655	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGAAGTAGATTCTGAACTTCA	0.423																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(4963-4965)Aat>Gat		SMG1 phosphatidylinositol 3-kinase-related kinase							105.0	102.0	103.0					16																	18863478		1856	4103	5959	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18863478T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4963A>G	16.37:g.18863478T>C	ENSP00000402515:p.Asn1655Asp					SMG1_ENST00000389467.3_Missense_Mutation_p.N1655D	p.N1655D			Q96Q15	SMG1_HUMAN			33	5375	-			1655			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.4963A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864334	0.51482	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01025	5.43;5.43	5.0	5.0	0.66597	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.178008	0.39274	N	0.001413	T	0.00875	0.0029	N	0.14661	0.345	0.29379	N	0.863488	B	0.09022	0.002	B	0.04013	0.001	T	0.46005	-0.9222	10	0.21540	T	0.41	.	14.9859	0.71348	0.0:0.0:0.0:1.0	.	1655	Q96Q15	SMG1_HUMAN	D	1655	ENSP00000402515:N1655D;ENSP00000374118:N1655D	ENSP00000374118:N1655D	N	-	1	0	SMG1	18770979	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	4.398000	0.59697	2.003000	0.58678	0.402000	0.26972	AAT		0.423	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	54	0	0	0	1	0	4	54				
ABHD4	63874	broad.mit.edu	37	14	23072633	23072633	+	Missense_Mutation	SNP	C	C	A	rs34793476	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:23072633C>A	ENST00000428304.2	+	3	521	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	151					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GGGAGGATTCCTGGCCACTTC	0.522																																						ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(451-453)Ctg>Atg		abhydrolase domain containing 4							72.0	75.0	74.0					14																	23072633		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23072633C>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.451C>A	14.37:g.23072633C>A	ENSP00000414558:p.Leu151Met					ABHD4_ENST00000544562.1_3'UTR	p.L151M	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	3	521	+	all_cancers(95;5.49e-05)		151					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.451C>A	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376001	0.82682	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	T;T	0.69685	-0.42;-0.42	5.3	5.3	0.74995	Alpha/beta hydrolase fold-1 (1);	0.070373	0.64402	D	0.000015	T	0.81226	0.4778	M	0.75264	2.295	0.80722	D	1	P;D	0.76494	0.927;0.999	P;D	0.75484	0.781;0.986	T	0.80852	-0.1197	10	0.44086	T	0.13	-12.8494	16.8221	0.85835	0.0:1.0:0.0:0.0	.	151;151	B4DNZ5;Q8TB40	.;ABHD4_HUMAN	M	151;85	ENSP00000414558:L151M;ENSP00000216327:L85M	ENSP00000216327:L85M	L	+	1	2	ABHD4	22142473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.927000	0.48900	2.644000	0.89710	0.655000	0.94253	CTG		0.522	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			29	60	1	0	1.74197e-06	1	1.82363e-06	29	60				
TMCO3	55002	broad.mit.edu	37	13	114156116	114156116	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr13:114156116C>T	ENST00000434316.2	+	5	1225	c.866C>T	c.(865-867)aCa>aTa	p.T289I	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.T289I	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	289						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGGCTATGTACAGCCATAGGA	0.358																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(865-867)aCa>aTa		transmembrane and coiled-coil domains 3							161.0	154.0	156.0					13																	114156116		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114156116C>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.866C>T	13.37:g.114156116C>T	ENSP00000389399:p.Thr289Ile					TMCO3_ENST00000375391.1_Missense_Mutation_p.T289I|TMCO3_ENST00000474393.1_3'UTR	p.T289I	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		5	1225	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	289					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.866C>T	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663393	0.29515	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T;T	0.16073	2.37;2.37	5.03	5.03	0.67393	Cation/H+ exchanger (1);	0.222293	0.44285	D	0.000466	T	0.36358	0.0964	M	0.68952	2.095	0.50039	D	0.999843	P;P	0.48294	0.908;0.887	P;B	0.55455	0.776;0.446	T	0.03344	-1.1046	10	0.42905	T	0.14	-29.7996	18.767	0.91878	0.0:1.0:0.0:0.0	.	289;289	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	I	289	ENSP00000389399:T289I;ENSP00000364540:T289I	ENSP00000364540:T289I	T	+	2	0	TMCO3	113204117	0.996000	0.38824	0.307000	0.25127	0.058000	0.15608	4.272000	0.58908	2.523000	0.85059	0.585000	0.79938	ACA		0.358	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		6	83	0	0	0	1	0	6	83				
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:9122540G>A	ENST00000318388.6	+	5	444	c.330G>A	c.(328-330)atG>atA	p.M110I	RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000400033.1_Missense_Mutation_p.M113I	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						TACCTCCAATGAGAGTATATG	0.328																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(337-339)atG>atA		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						99.0	96.0	97.0					18																	9122540		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122540G>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.330G>A	18.37:g.9122540G>A	ENSP00000327268:p.Met110Ile					RP11-143J12.2_ENST00000583081.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-21J18.1_ENST00000579126.1_RNA	p.M113I			P19404	NDUV2_HUMAN			6	456	+			110					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.339G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714320	0.68730	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.13299	0.325	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.16928	-1.0386	10	0.11182	T	0.66	-14.8923	20.3397	0.98756	0.0:0.0:1.0:0.0	.	110	P19404	NDUV2_HUMAN	I	110;113	ENSP00000327268:M110I;ENSP00000382908:M113I	ENSP00000327268:M110I	M	+	3	0	NDUFV2	9112540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	ATG		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		4	152	0	0	0	1	0	4	152				
CEP350	9857	broad.mit.edu	37	1	180023027	180023027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:180023027A>G	ENST00000367607.3	+	24	5550	c.5132A>G	c.(5131-5133)gAg>gGg	p.E1711G		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1711					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCCTTGAAGGAGAAGACTAAG	0.393																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5131-5133)gAg>gGg		centrosomal protein 350kDa							71.0	75.0	74.0					1																	180023027		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180023027A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5132A>G	1.37:g.180023027A>G	ENSP00000356579:p.Glu1711Gly						p.E1711G	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			24	5550	+			1711					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5132A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	33	5.274472	0.95459	.	.	ENSG00000135837	ENST00000367607	T	0.69561	-0.41	5.98	5.98	0.97165	.	0.000000	0.46758	D	0.000261	T	0.72867	0.3514	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.976;0.987	T	0.71351	-0.4619	9	.	.	.	.	16.1237	0.81377	1.0:0.0:0.0:0.0	.	1711;1711	E7EU22;Q5VT06	.;CE350_HUMAN	G	1711	ENSP00000356579:E1711G	.	E	+	2	0	CEP350	178289650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	GAG		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	58	0	0	0	1	0	4	58				
BRINP3	339479	broad.mit.edu	37	1	190203514	190203514	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:190203514T>A	ENST00000367462.3	-	5	943	c.712A>T	c.(712-714)Att>Ttt	p.I238F	BRINP3_ENST00000534846.1_Missense_Mutation_p.I136F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	238	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGCAACTGAATCTTATTCTCA	0.383																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(712-714)Att>Ttt									112.0	102.0	105.0					1																	190203514		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190203514T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.712A>T	1.37:g.190203514T>A	ENSP00000356432:p.Ile238Phe					FAM5C_ENST00000534846.1_Missense_Mutation_p.I136F|FAM5C_ENST00000484105.1_5'UTR	p.I238F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			5	943	-	Prostate(682;0.198)		238					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.712A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904795	0.52333	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20738	2.31;2.05	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.109580	0.64402	D	0.000007	T	0.23886	0.0578	L	0.39898	1.24	0.49389	D	0.999782	P;P	0.48016	0.904;0.718	P;B	0.45099	0.469;0.218	T	0.01146	-1.1437	10	0.72032	D	0.01	.	14.2151	0.65788	0.0:0.0:0.0:1.0	.	136;238	B7Z260;Q76B58	.;FAM5C_HUMAN	F	238;136	ENSP00000356432:I238F;ENSP00000438022:I136F	ENSP00000356432:I238F	I	-	1	0	FAM5C	188470137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.614000	0.54160	2.239000	0.73571	0.528000	0.53228	ATT		0.383	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		21	26	0	0	0	1	0	21	26				
SH3RF2	153769	broad.mit.edu	37	5	145442014	145442014	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:145442014A>G	ENST00000511217.1	+	9	1992	c.1940A>G	c.(1939-1941)aAt>aGt	p.N647S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.N647S|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	647					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATTTCAGAATTACAGCCCT	0.542																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1939-1941)aAt>aGt		SH3 domain containing ring finger 2							148.0	140.0	143.0					5																	145442014		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145442014A>G	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1940A>G	5.37:g.145442014A>G	ENSP00000424497:p.Asn647Ser					SH3RF2_ENST00000359120.4_Missense_Mutation_p.N647S|SH3RF2_ENST00000511705.1_3'UTR	p.N647S			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1992	+			647					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1940A>G	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737138	0.69304	.	.	ENSG00000156463	ENST00000359120;ENST00000511217;ENST00000513503	T;T	0.19105	2.17;2.17	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.63843	1.955	0.31091	N	0.71076	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.36625	-0.9740	10	0.14656	T	0.56	-18.8709	13.402	0.60889	1.0:0.0:0.0:0.0	.	138;647	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	S	647;647;46	ENSP00000352028:N647S;ENSP00000424497:N647S	ENSP00000352028:N647S	N	+	2	0	SH3RF2	145422207	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.441000	0.66569	1.985000	0.57927	0.260000	0.18958	AAT		0.542	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		7	81	0	0	0	1	0	7	81				
TUT1	64852	broad.mit.edu	37	11	62349058	62349058	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:62349058T>G	ENST00000476907.1	-	3	1080	c.389A>C	c.(388-390)gAg>gCg	p.E130A	MIR3654_ENST00000496634.2_Missense_Mutation_p.E130A|TUT1_ENST00000308436.7_Missense_Mutation_p.E168A			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	130					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCTCTGGAACTCCTTCTGCTC	0.652																																						ENST00000496634.2																			0				NS(1)	1						c.(388-390)gAg>gCg									30.0	30.0	30.0					11																	62349058		2202	4299	6501	SO:0001583	missense	0							g.chr11:62349058T>G	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.389A>C	11.37:g.62349058T>G	ENSP00000419607:p.Glu130Ala					TUT1_ENST00000308436.7_Missense_Mutation_p.E168A|TUT1_ENST00000476907.1_Missense_Mutation_p.E130A	p.E130A							3	434	-								A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.389A>C		.	.	.	.	.	.	.	.	.	.	T	14.96	2.692454	0.48202	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000494385	T;T;T	0.47528	2.31;2.31;0.84	5.52	4.36	0.52297	.	0.101779	0.64402	N	0.000004	T	0.39937	0.1097	L	0.55481	1.735	0.29988	N	0.817092	B	0.20671	0.047	B	0.18263	0.021	T	0.34254	-0.9836	10	0.16420	T	0.52	-18.9661	10.7939	0.46449	0.0:0.0:0.1594:0.8406	.	168	F5H0R1	.	A	168;130;44	ENSP00000308000:E168A;ENSP00000419607:E130A;ENSP00000420739:E44A	ENSP00000441670:E130A	E	-	2	0	TUT1	62105634	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	2.203000	0.42752	0.889000	0.36185	0.529000	0.55759	GAG		0.652	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		8	27	0	0	0	1	0	8	27				
NPIPA1	9284	broad.mit.edu	37	16	15045628	15045628	+	Missense_Mutation	SNP	T	T	C	rs201084206	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:15045628T>C	ENST00000328085.6	+	8	799	c.799T>C	c.(799-801)Tcc>Ccc	p.S267P	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	267	Pro-rich.			S -> P (in Ref. 2; AAC05438). {ECO:0000305}.	mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)		p.S267P(2)									CAAGACACCTTCCGAGTGTCT	0.517																																						ENST00000328085.6																			2	Substitution - Missense(2)	p.S267P(2)	lung(1)|prostate(1)								c.(799-801)Tcc>Ccc		nuclear pore complex interacting protein family, member A1							83.0	70.0	75.0					16																	15045628		1386	2346	3732	SO:0001583	missense	9284							g.chr16:15045628T>C	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.799T>C	16.37:g.15045628T>C	ENSP00000331843:p.Ser267Pro					NPIPA1_ENST00000472413.1_3'UTR	p.S267P	NM_006985.2	NP_008916.2					8	799	+								O15102	Missense_Mutation	SNP	ENST00000328085.6	37	c.799T>C	CCDS10557.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.690967	0.00100	.	.	ENSG00000183426	ENST00000432470;ENST00000328085	T	0.25085	1.82	.	.	.	.	.	.	.	.	T	0.04092	0.0114	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	7	0.02654	T	1	.	.	.	.	.	267	Q9UND3	NPIP_HUMAN	P	267	ENSP00000331843:S267P	ENSP00000331843:S267P	S	+	1	0	NPIP	14953129	0.017000	0.18338	0.034000	0.17996	0.034000	0.12701	-1.744000	0.01832	-1.660000	0.01486	-1.680000	0.00737	TCC		0.517	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		3	34	0	0	0	1	0	3	34				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	63	0	0	0	1	0	7	63				
MACF1	23499	broad.mit.edu	37	1	39806385	39806385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:39806385A>G	ENST00000372915.3	+	38	10529	c.10442A>G	c.(10441-10443)gAa>gGa	p.E3481G	MACF1_ENST00000564288.1_Missense_Mutation_p.E3476G|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3481					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGAAATAGAAAAGGTAGCA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10426-10428)gAa>gGa		microtubule-actin crosslinking factor 1							51.0	52.0	52.0					1																	39806385		2203	4299	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39806385A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10442A>G	1.37:g.39806385A>G	ENSP00000362006:p.Glu3481Gly					MACF1_ENST00000372915.3_Missense_Mutation_p.E3481G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G	p.E3476G			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		39	11204	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3481					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.10427A>G		.	.	.	.	.	.	.	.	.	.	A	9.506	1.104593	0.20632	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.34275	1.37;1.37	5.24	4.09	0.47781	.	0.431170	0.21289	N	0.077008	T	0.32315	0.0825	L	0.46157	1.445	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.05666	-1.0871	10	0.41790	T	0.15	.	12.1466	0.54026	0.8564:0.1436:0.0:0.0	.	3481	Q9UPN3	MACF1_HUMAN	G	3481;1916	ENSP00000362006:E3481G;ENSP00000289893:E1916G	ENSP00000289893:E1916G	E	+	2	0	MACF1	39578972	0.996000	0.38824	0.320000	0.25306	0.584000	0.36387	3.963000	0.56773	0.802000	0.34089	0.383000	0.25322	GAA		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	22	0	0	0	1	0	12	22				
SMOC1	64093	broad.mit.edu	37	14	70477663	70477663	+	Splice_Site	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:70477663G>A	ENST00000381280.4	+	8	1110	c.857G>A	c.(856-858)cGc>cAc	p.R286H	SMOC1_ENST00000361956.3_Splice_Site_p.R286H	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	286	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.		R -> H (in OAS). {ECO:0000269|PubMed:23646827}.		cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACCTCCACACGGTAAGCCCCC	0.617																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.e8+1		SPARC related modular calcium binding 1							35.0	37.0	36.0					14																	70477663		2203	4300	6503	SO:0001630	splice_region_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477663G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.857+1G>A	14.37:g.70477663G>A						SMOC1_ENST00000361956.3_Splice_Site_p.R286_splice	p.R286_splice	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	1110	+			286			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Splice_Site	SNP	ENST00000381280.4	37	c.857_splice	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608986	0.96637	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.64085	-0.08;-0.08	5.6	5.6	0.85130	Thyroglobulin type-1 (4);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.93	T	0.75935	-0.3142	10	0.54805	T	0.06	-17.8968	19.9627	0.97258	0.0:0.0:1.0:0.0	.	286;286	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	H	286	ENSP00000355110:R286H;ENSP00000370680:R286H	ENSP00000355110:R286H	R	+	2	0	SMOC1	69547416	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.878000	0.87231	2.797000	0.96272	0.650000	0.86243	CGC		0.617	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1		Missense_Mutation	3	35	0	0	0	1	0	3	35				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	91	0	0	0	1	0	4	91				
RAD21	5885	broad.mit.edu	37	8	117878948	117878948	+	Silent	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:117878948A>G	ENST00000297338.2	-	2	308	c.21T>C	c.(19-21)gtT>gtC	p.V7V	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	7					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTTTACTGAGAACAAAATGTG	0.408																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(19-21)gtT>gtC		RAD21 homolog (S. pombe)							38.0	38.0	38.0					8																	117878948		2203	4299	6502	SO:0001819	synonymous_variant	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117878948A>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.21T>C	8.37:g.117878948A>G						RAD21_ENST00000523547.1_5'UTR	p.V7V	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			2	308	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		7					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.21T>C	CCDS6321.1																																																																																				0.408	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		3	30	0	0	0	1	0	3	30				
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:2877779G>A	ENST00000398129.1	+	1	157	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000355842.3_Missense_Mutation_p.R46H|ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(136-138)cGc>cAc		adducin 1 (alpha)							118.0	114.0	115.0					4																	2877779		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877779G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.137G>A	4.37:g.2877779G>A	ENSP00000381197:p.Arg46His					ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398129.1_Missense_Mutation_p.R46H	p.R46H			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	1000	+			46					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.137G>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321310	0.95682	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.996;0.999;0.975;0.996;0.943	T	0.65492	-0.6155	10	0.87932	D	0	-17.3626	18.4459	0.90683	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46;46	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	46	ENSP00000264758:R46H;ENSP00000399828:R46H;ENSP00000381193:R46H;ENSP00000421918:R46H;ENSP00000421907:R46H;ENSP00000426700:R46H;ENSP00000423024:R46H;ENSP00000348100:R46H;ENSP00000381191:R46H;ENSP00000381197:R46H	ENSP00000264758:R46H	R	+	2	0	ADD1	2847577	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.356000	0.97091	2.597000	0.87782	0.591000	0.81541	CGC		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		16	24	0	0	0	1	0	16	24				
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(160-162)cGg>cAg		formyl peptide receptor 1	Nedocromil(DB00716)	C	GLN/ARG,GLN/ARG	2,4404		0,2,2201	159.0	125.0	136.0		161,161	2.6	0.6	19	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	54/351,54/351	52250087	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250087C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.161G>A	19.37:g.52250087C>T	ENSP00000471493:p.Arg54Gln					FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	302	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	54					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.161G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	16.78	3.217300	0.58560	4.54E-4	0.0	ENSG00000171051	ENST00000304748	T	0.40756	1.02	3.67	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.431779	0.22832	N	0.055096	T	0.36358	0.0964	L	0.46741	1.465	0.30025	N	0.813958	P	0.44659	0.84	P	0.45343	0.477	T	0.25047	-1.0143	10	0.35671	T	0.21	.	6.6407	0.22906	0.0:0.7667:0.0:0.2333	.	54	P21462	FPR1_HUMAN	Q	54	ENSP00000302707:R54Q	ENSP00000302707:R54Q	R	-	2	0	FPR1	56941899	0.982000	0.34865	0.578000	0.28575	0.877000	0.50540	1.505000	0.35736	0.834000	0.34852	-0.244000	0.11960	CGG		0.527	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		11	32	0	0	0	1	0	11	32				
ABL1	25	broad.mit.edu	37	9	133730389	133730389	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:133730389G>A	ENST00000318560.5	+	3	836	c.455G>A	c.(454-456)cGt>cAt	p.R152H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	152	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TTCTTGGTGCGTGAGAGTGAG	0.557			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(454-456)cGt>cAt		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						103.0	86.0	92.0					9																	133730389		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133730389G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.455G>A	9.37:g.133730389G>A	ENSP00000323315:p.Arg152His						p.R152H	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	3	836	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	152			SH2.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.455G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.911388	0.97093	.	.	ENSG00000097007	ENST00000372348;ENST00000318560	D;D	0.99292	-5.7;-5.7	5.67	5.67	0.87782	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97175	0.9847	10	0.87932	D	0	.	18.8246	0.92111	0.0:0.0:1.0:0.0	.	152;189	P00519;Q59FK4	ABL1_HUMAN;.	H	171;152	ENSP00000361423:R171H;ENSP00000323315:R152H	ENSP00000323315:R152H	R	+	2	0	ABL1	132720210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.812000	0.99227	2.677000	0.91161	0.638000	0.83543	CGT		0.557	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		4	54	0	0	0	1	0	4	54				
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(355-357)caC>caT		olfactory receptor, family 51, subfamily F, member 2							189.0	167.0	174.0					11																	4842972		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842972C>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.357C>T	11.37:g.4842972C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.H119H	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	422	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	119					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.357C>T	CCDS31361.1																																																																																				0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		52	85	0	0	0	1	0	52	85				
MBNL3	55796	broad.mit.edu	37	X	131573597	131573597	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:131573597G>A	ENST00000370853.3	-	1	121	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.L15L|MBNL3_ENST00000370857.3_Silent_p.L15L	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	15					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCTAAAGTCAGCCACTTGGTA	0.418																																						ENST00000370857.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(43-45)Ctg>Ttg		muscleblind-like splicing regulator 3							152.0	152.0	152.0					X																	131573597		2203	4299	6502	SO:0001819	synonymous_variant	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131573597G>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.43C>T	X.37:g.131573597G>A						MBNL3_ENST00000370853.3_Silent_p.L15L|MBNL3_ENST00000370839.3_Silent_p.L15L|MBNL3_ENST00000370844.1_5'UTR	p.L15L			Q9NUK0	MBNL3_HUMAN			1	108	-	Acute lymphoblastic leukemia(192;0.000127)		15					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Silent	SNP	ENST00000370853.3	37	c.43C>T	CCDS14633.1																																																																																				0.418	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		63	135	0	0	0	1	0	63	135				
CREB3L3	84699	broad.mit.edu	37	19	4171818	4171818	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:4171818A>C	ENST00000078445.2	+	10	1385	c.1238A>C	c.(1237-1239)aAt>aCt	p.N413T	CREB3L3_ENST00000595923.1_Missense_Mutation_p.N412T|CREB3L3_ENST00000602257.1_Missense_Mutation_p.N411T|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000252587.3_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	413					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCTGACCAATTCGACGGAG	0.682																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(1237-1239)aAt>aCt		cAMP responsive element binding protein 3-like 3							40.0	45.0	43.0					19																	4171818		2203	4297	6500	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171818A>C		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1238A>C	19.37:g.4171818A>C	ENSP00000078445:p.Asn413Thr					CREB3L3_ENST00000602257.1_Missense_Mutation_p.N411T|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.N412T|CREB3L3_ENST00000252587.3_3'UTR	p.N413T	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1385	+			413					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.1238A>C	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500913	0.26861	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83506	-1.73	3.83	0.114	0.14639	.	0.725075	0.12408	N	0.471563	T	0.71879	0.3392	L	0.32530	0.975	0.09310	N	1	B;B;B	0.19331	0.02;0.035;0.02	B;B;B	0.17098	0.007;0.017;0.007	T	0.55471	-0.8136	10	0.30078	T	0.28	-29.6142	9.408	0.38473	0.4293:0.5707:0.0:0.0	.	411;412;413	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	T	413;371	ENSP00000078445:N413T	ENSP00000078445:N413T	N	+	2	0	CREB3L3	4122818	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.412000	0.07132	-0.169000	0.10834	0.459000	0.35465	AAT		0.682	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		5	65	0	0	0	1	0	5	65				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	53	0	0	0	1	0	5	53				
KIF1C	10749	broad.mit.edu	37	17	4910336	4910336	+	Missense_Mutation	SNP	C	C	T	rs139663513		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:4910336C>T	ENST00000320785.5	+	14	1649	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	431					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCCCCCAACACGGAGTCCCAG	0.612																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(1291-1293)aCg>aTg		kinesin family member 1C		C	MET/THR	0,4406		0,0,2203	53.0	56.0	55.0		1292	4.1	0.0	17	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF1C	NM_006612.5	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	431/1104	4910336	1,13005	2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4910336C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1292C>T	17.37:g.4910336C>T	ENSP00000320821:p.Thr431Met						p.T431M	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			14	1649	+			431					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1292C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	7.745	0.702073	0.15172	0.0	1.16E-4	ENSG00000129250	ENST00000320785	T	0.73047	-0.71	5.09	4.12	0.48240	.	.	.	.	.	T	0.51517	0.1679	N	0.22421	0.69	0.09310	N	1	B	0.30870	0.298	B	0.20384	0.029	T	0.36866	-0.9730	9	0.33141	T	0.24	.	7.6934	0.28581	0.0:0.7441:0.1659:0.09	.	431	O43896	KIF1C_HUMAN	M	431	ENSP00000320821:T431M	ENSP00000320821:T431M	T	+	2	0	KIF1C	4851060	0.001000	0.12720	0.014000	0.15608	0.042000	0.13812	0.900000	0.28431	1.472000	0.48140	0.655000	0.94253	ACG		0.612	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			4	89	0	0	0	1	0	4	89				
CTSG	1511	broad.mit.edu	37	14	25043508	25043508	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.Y179Y(1)	kidney(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(535-537)taC>taT		cathepsin G							91.0	76.0	81.0					14																	25043508		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043508G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.537C>T	14.37:g.25043508G>A							p.Y179Y	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	573	-			179			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.537C>T	CCDS9631.1																																																																																				0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		9	30	0	0	0	1	0	9	30				
UNC13B	10497	broad.mit.edu	37	9	35389942	35389942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:35389942A>G	ENST00000378495.3	+	24	3169	c.2947A>G	c.(2947-2949)Aag>Gag	p.K983E	UNC13B_ENST00000378496.4_Missense_Mutation_p.K983E|UNC13B_ENST00000396787.1_Missense_Mutation_p.K995E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	983					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGAAGATAAGAATTCCTA	0.493																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2947-2949)Aag>Gag		unc-13 homolog B (C. elegans)							232.0	219.0	223.0					9																	35389942		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35389942A>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2947A>G	9.37:g.35389942A>G	ENSP00000367756:p.Lys983Glu					UNC13B_ENST00000396787.1_Missense_Mutation_p.K995E|UNC13B_ENST00000378496.4_Missense_Mutation_p.K983E	p.K983E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		24	3169	+	all_epithelial(49;0.212)		983					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2947A>G	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648589	0.87958	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84589	-1.75;-1.68;-1.87	5.29	5.29	0.74685	Calcium-dependent secretion activator (1);	0.130528	0.64402	D	0.000001	D	0.91236	0.7238	M	0.79258	2.445	0.44373	D	0.997275	P;D	0.56287	0.873;0.975	B;P	0.60473	0.225;0.875	D	0.92462	0.5978	10	0.87932	D	0	-22.8727	15.512	0.75789	1.0:0.0:0.0:0.0	.	983;983	F8W8M9;O14795	.;UN13B_HUMAN	E	995;983;983;570	ENSP00000380006:K995E;ENSP00000367756:K983E;ENSP00000367757:K983E	ENSP00000367756:K983E	K	+	1	0	UNC13B	35379942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.732000	0.68563	2.117000	0.64856	0.533000	0.62120	AAG		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		7	94	0	0	0	1	0	7	94				
IQSEC2	23096	broad.mit.edu	37	X	53279873	53279873	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:53279873G>A	ENST00000375368.5	-	4	2055	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	IQSEC2_ENST00000375365.2_Missense_Mutation_p.H424Y|IQSEC2_ENST00000396435.3_Missense_Mutation_p.H629Y			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	619	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGTCCCATGGGGGCTGCAG	0.677																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(1885-1887)Cat>Tat		IQ motif and Sec7 domain 2							17.0	20.0	19.0					X																	53279873		2200	4296	6496	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53279873G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1855C>T	X.37:g.53279873G>A	ENSP00000364517:p.His619Tyr					IQSEC2_ENST00000375368.5_Missense_Mutation_p.H619Y|IQSEC2_ENST00000375365.2_Missense_Mutation_p.H424Y	p.H629Y	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			5	2085	-			619			Pro-rich.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.1885C>T		.	.	.	.	.	.	.	.	.	.	g	21.4	4.147242	0.77888	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.13089	2.63;2.62;2.67	5.13	5.13	0.70059	.	0.719231	0.13018	N	0.420322	T	0.19927	0.0479	L	0.29908	0.895	0.44469	D	0.997409	P;P	0.52316	0.952;0.908	P;B	0.50659	0.647;0.359	T	0.02424	-1.1161	10	0.62326	D	0.03	.	16.4198	0.83754	0.0:0.0:1.0:0.0	.	629;424	Q5JU85-2;Q5JU85-3	.;.	Y	629;619;424	ENSP00000379712:H629Y;ENSP00000364517:H619Y;ENSP00000364514:H424Y	ENSP00000364514:H424Y	H	-	1	0	IQSEC2	53296598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.705000	0.84606	2.131000	0.65755	0.597000	0.82753	CAT		0.677	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		10	22	0	0	0	1	0	10	22				
HDLBP	3069	broad.mit.edu	37	2	242186209	242186209	+	Silent	SNP	G	G	A	rs187198864		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:242186209G>A	ENST00000391975.1	-	16	2135	c.1908C>T	c.(1906-1908)tgC>tgT	p.C636C	AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000310931.4_Silent_p.C636C|HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000427183.2_Silent_p.C603C|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	636	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGCAGCTTCGCAGTTGGCTC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21413	0.0		0.001	False		,,,				2504	0.0					ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1906-1908)tgC>tgT		high density lipoprotein binding protein							144.0	146.0	145.0					2																	242186209		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242186209G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1908C>T	2.37:g.242186209G>A						HDLBP_ENST00000427183.2_Silent_p.C603C|HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000310931.4_Silent_p.C636C	p.C636C	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	16	2135	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	636			KH 7.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.1908C>T	CCDS2547.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	1.007|1.007	-0.688982|-0.688982	0.03328|0.03328	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000373292	.|.	.|.	.|.	6.16|6.16	-5.07|-5.07	0.02938|0.02938	.|.	.|.	.|.	.|.	.|.	T|.	0.62048|.	0.2396|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61787|.	-0.6991|.	4|.	.|.	.|.	.|.	-24.7838|-24.7838	13.8865|13.8865	0.63712|0.63712	0.5993:0.0:0.4007:0.0|0.5993:0.0:0.4007:0.0	.|.	.|.	.|.	.|.	V|X	24|445	.|.	.|.	A|R	-|-	2|1	0|2	HDLBP|HDLBP	241834882|241834882	0.243000|0.243000	0.23878|0.23878	0.382000|0.382000	0.26119|0.26119	0.009000|0.009000	0.06853|0.06853	-0.207000|-0.207000	0.09384|0.09384	-1.248000|-1.248000	0.02503|0.02503	-1.655000|-1.655000	0.00754|0.00754	GCG|CGA		0.458	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		38	71	0	0	0	1	0	38	71				
MRPL13	28998	broad.mit.edu	37	8	121426350	121426350	+	Splice_Site	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:121426350T>C	ENST00000306185.3	-	6	686	c.395A>G	c.(394-396)tAt>tGt	p.Y132C		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	132					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCTGGAATATACTACATTAA	0.269																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.e6-1		mitochondrial ribosomal protein L13							56.0	55.0	55.0					8																	121426350		2203	4300	6503	SO:0001630	splice_region_variant	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426350T>C	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.394-1A>G	8.37:g.121426350T>C							p.Y132_splice	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	686	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		132					B2R4R8|Q9UI04	Splice_Site	SNP	ENST00000306185.3	37	c.393_splice	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	T	9.400	1.077801	0.20227	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.74	5.74	0.90152	Ribosomal protein L13 domain (2);	0.612943	0.18235	N	0.147422	T	0.24198	0.0586	N	0.03608	-0.345	0.18873	N	0.999985	B	0.18610	0.029	B	0.16722	0.016	T	0.25467	-1.0131	9	0.72032	D	0.01	0.6324	13.8503	0.63492	0.0:0.0:0.0:1.0	.	132	Q9BYD1	RM13_HUMAN	C	132;108	.	ENSP00000306548:Y132C	Y	-	2	0	MRPL13	121495531	0.974000	0.33945	0.993000	0.49108	0.771000	0.43674	1.683000	0.37638	2.317000	0.78254	0.459000	0.35465	TAT		0.269	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078	Missense_Mutation	6	16	0	0	0	1	0	6	16				
NR3C2	4306	broad.mit.edu	37	4	149357147	149357147	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:149357147T>C	ENST00000358102.3	-	2	1228	c.866A>G	c.(865-867)aAt>aGt	p.N289S	NR3C2_ENST00000511528.1_Missense_Mutation_p.N289S|NR3C2_ENST00000355292.3_Missense_Mutation_p.N289S|NR3C2_ENST00000344721.4_Missense_Mutation_p.N289S|NR3C2_ENST00000512865.1_Missense_Mutation_p.N289S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	289	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGTGACATTATTGGGACTGGA	0.458																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(865-867)aAt>aGt		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						61.0	65.0	63.0					4																	149357147		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357147T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.866A>G	4.37:g.149357147T>C	ENSP00000350815:p.Asn289Ser					NR3C2_ENST00000358102.3_Missense_Mutation_p.N289S|NR3C2_ENST00000512865.1_Missense_Mutation_p.N289S|NR3C2_ENST00000344721.4_Missense_Mutation_p.N289S|NR3C2_ENST00000342437.4_Missense_Mutation_p.N289S|NR3C2_ENST00000511528.1_Missense_Mutation_p.N289S	p.N289S			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1228	-	all_hematologic(180;0.151)		289			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.866A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	7.598	0.672121	0.14776	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89939	-2.58;-2.59;-2.58;-2.19;-2.19;-2.59	4.42	3.24	0.37175	.	0.192993	0.53938	N	0.000050	T	0.79969	0.4538	L	0.27053	0.805	0.28375	N	0.919816	B;B	0.19935	0.018;0.04	B;B	0.19391	0.025;0.024	T	0.66002	-0.6031	9	.	.	.	.	9.6305	0.39776	0.0:0.0842:0.0:0.9158	.	289;289	B0ZBF5;B0ZBF6	.;.	S	289	ENSP00000341390:N289S;ENSP00000347441:N289S;ENSP00000350815:N289S;ENSP00000423510:N289S;ENSP00000343907:N289S;ENSP00000421481:N289S	.	N	-	2	0	NR3C2	149576597	0.981000	0.34729	0.006000	0.13384	0.801000	0.45260	1.919000	0.40015	0.655000	0.30866	0.482000	0.46254	AAT		0.458	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			5	43	0	0	0	1	0	5	43				
PRKG1	5592	broad.mit.edu	37	10	54031166	54031166	+	Silent	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:54031166T>C	ENST00000401604.2	+	11	1379	c.1185T>C	c.(1183-1185)cgT>cgC	p.R395R	PRKG1_ENST00000373980.4_Silent_p.R410R|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Silent_p.R383R|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Silent_p.R113R			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCAAGAAACGTCACATTGTGG	0.443																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1228-1230)cgT>cgC		protein kinase, cGMP-dependent, type I							84.0	78.0	80.0					10																	54031166		2203	4300	6503	SO:0001819	synonymous_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54031166T>C		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1185T>C	10.37:g.54031166T>C						PRKG1_ENST00000373975.2_Silent_p.R113R|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.R383R|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.R395R	p.R410R	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	11	1647	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	395			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	c.1230T>C	CCDS44399.1																																																																																				0.443	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	48	0	0	0	1	0	4	48				
PREPL	9581	broad.mit.edu	37	2	44586810	44586810	+	Silent	SNP	A	A	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:44586810A>G	ENST00000409936.1	-	2	482	c.45T>C	c.(43-45)agT>agC	p.S15S	PREPL_ENST00000410081.1_Silent_p.S15S|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000378520.3_Silent_p.S15S|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000378511.3_Silent_p.S15S|PREPL_ENST00000260648.6_Silent_p.S15S|PREPL_ENST00000409272.1_Silent_p.S15S|CAMKMT_ENST00000407131.1_5'Flank|PREPL_ENST00000541738.1_Intron|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000409957.1_Intron|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000409411.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	15						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTGAGGAATACTATACTTCA	0.363																																						ENST00000409936.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33						c.(43-45)agT>agC		prolyl endopeptidase-like							101.0	101.0	101.0					2																	44586810		2203	4300	6503	SO:0001819	synonymous_variant	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44586810A>G	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.45T>C	2.37:g.44586810A>G						PREPL_ENST00000260648.6_Silent_p.S15S|PREPL_ENST00000378520.3_Silent_p.S15S|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000410081.1_Silent_p.S15S|PREPL_ENST00000409272.1_Silent_p.S15S|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000378511.3_Silent_p.S15S	p.S15S	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN			2	482	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	15					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	c.45T>C	CCDS33190.1																																																																																				0.363	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		5	76	0	0	0	1	0	5	76				
PIK3R1	5295	broad.mit.edu	37	5	67591258	67591258	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:67591258C>G	ENST00000521381.1	+	14	2372	c.1756C>G	c.(1756-1758)Caa>Gaa	p.Q586E	PIK3R1_ENST00000336483.5_Missense_Mutation_p.Q316E|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Q586E|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Q223E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Q286E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	586					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTGGTTGACTCAAAAAGGTGT	0.358			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1756-1758)Caa>Gaa		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						151.0	151.0	151.0					5																	67591258		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591258C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1756C>G	5.37:g.67591258C>G	ENSP00000428056:p.Gln586Glu	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Missense_Mutation_p.Q316E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.Q586E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.Q286E|PIK3R1_ENST00000523872.1_Missense_Mutation_p.Q223E|PIK3R1_ENST00000274335.5_Missense_Mutation_p.Q586E	p.Q586E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2372	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	586					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1756C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395507	0.62066	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	4.84	4.84	0.62591	.	0.107189	0.64402	D	0.000004	T	0.21881	0.0527	L	0.38531	1.155	0.80722	D	1	B;B;B;B	0.25521	0.006;0.002;0.001;0.128	B;B;B;B	0.17433	0.003;0.003;0.002;0.018	T	0.03945	-1.0990	10	0.20046	T	0.44	-20.294	18.1606	0.89707	0.0:1.0:0.0:0.0	.	256;316;286;586	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	E	586;586;586;586;286;316;223	ENSP00000428056:Q586E;ENSP00000429277:Q586E;ENSP00000379855:Q586E;ENSP00000274335:Q586E;ENSP00000323512:Q286E;ENSP00000338554:Q316E;ENSP00000430098:Q223E	ENSP00000274335:Q586E	Q	+	1	0	PIK3R1	67627014	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.651000	0.83577	2.515000	0.84797	0.460000	0.39030	CAA		0.358	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		12	36	0	0	0	1	0	12	36				
SPP1	6696	broad.mit.edu	37	4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	ENST00000395080.3	+	4	236	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_ENST00000237623.7_Missense_Mutation_p.P37S|SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	37					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.(109-111)Cca>Tca		secreted phosphoprotein 1							93.0	95.0	94.0					4																	88901213		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88901213C>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.109C>T	4.37:g.88901213C>T	ENSP00000378517:p.Pro37Ser					SPP1_ENST00000360804.4_Intron|SPP1_ENST00000395080.3_Missense_Mutation_p.P37S|SPP1_ENST00000509659.1_3'UTR	p.P37S	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	4	257	+		Hepatocellular(203;0.114)	37					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.109C>T	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959912	0.53400	.	.	ENSG00000118785	ENST00000359072;ENST00000237623;ENST00000395080	T;T	0.27890	1.64;1.64	5.62	2.97	0.34412	.	0.198829	0.35708	N	0.003039	T	0.19725	0.0474	N	0.19112	0.55	0.46185	D	0.998916	P;P;P	0.45827	0.717;0.867;0.867	B;B;B	0.43194	0.32;0.411;0.411	T	0.02075	-1.1218	10	0.36615	T	0.2	-1.4696	8.134	0.31043	0.0:0.7464:0.0:0.2536	.	50;37;37	B7Z351;B2RDA1;P10451	.;.;OSTP_HUMAN	S	37	ENSP00000237623:P37S;ENSP00000378517:P37S	ENSP00000237623:P37S	P	+	1	0	SPP1	89120237	0.482000	0.25948	0.124000	0.21820	0.974000	0.67602	0.084000	0.14891	0.324000	0.23333	0.643000	0.83706	CCA		0.363	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			19	44	0	0	0	1	0	19	44				
MKI67	4288	broad.mit.edu	37	10	129905742	129905742	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:129905742G>A	ENST00000368654.3	-	13	4737	c.4362C>T	c.(4360-4362)caC>caT	p.H1454H	MKI67_ENST00000368653.3_Silent_p.H1094H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1454	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGTTTTTGGGTGCCTCTTGC	0.493																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4360-4362)caC>caT		marker of proliferation Ki-67							210.0	207.0	208.0					10																	129905742		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905742G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4362C>T	10.37:g.129905742G>A						MKI67_ENST00000368653.3_Silent_p.H1094H	p.H1454H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4737	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1454			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.4362C>T	CCDS7659.1																																																																																				0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	191	0	0	0	1	0	8	191				
POTEH	23784	broad.mit.edu	37	22	16287843	16287843	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:16287843T>C	ENST00000343518.6	-	1	94	c.43A>G	c.(43-45)Aag>Gag	p.K15E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	15										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AATGGCTTCTTCACAGAGGAG	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(43-45)Aag>Gag		POTE ankyrin domain family, member H							53.0	69.0	64.0					22																	16287843		1419	2883	4302	SO:0001583	missense	23784							g.chr22:16287843T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.43A>G	22.37:g.16287843T>C	ENSP00000340610:p.Lys15Glu						p.K15E	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	94	-			15					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.43A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650197	0.29336	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.54866	0.55	0.462	0.462	0.16695	.	.	.	.	.	T	0.56093	0.1962	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.44907	-0.9297	8	0.87932	D	0	.	.	.	.	.	15	Q6S545	POTEH_HUMAN	E	15	ENSP00000340610:K15E	ENSP00000340610:K15E	K	-	1	0	POTEH	14667843	0.127000	0.22367	0.023000	0.16930	0.023000	0.10783	1.153000	0.31676	0.431000	0.26258	0.228000	0.17796	AAG		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		7	409	0	0	0	1	0	7	409				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	64	0	0	0	1	0	6	64				
BRINP1	1620	broad.mit.edu	37	9	121930179	121930179	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:121930179T>C	ENST00000265922.3	-	8	1930	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	490					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTGCAGCAGGTACTTCAGCTC	0.582																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1468-1470)tAc>tGc									228.0	164.0	186.0					9																	121930179		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930179T>C	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1469A>G	9.37:g.121930179T>C	ENSP00000265922:p.Tyr490Cys					DBC1_ENST00000482797.1_Intron	p.Y490C	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	1930	-			490					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1469A>G	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927494	0.52759	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.56611	0.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	T	0.72301	-0.4334	10	0.87932	D	0	-23.1869	15.6977	0.77512	0.0:0.0:0.0:1.0	.	490	O60477	DBC1_HUMAN	C	490	ENSP00000265922:Y490C	ENSP00000265922:Y490C	Y	-	2	0	DBC1	120970000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.217000	0.72218	2.101000	0.63845	0.533000	0.62120	TAC		0.582	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		3	37	0	0	0	1	0	3	37				
WISP2	8839	broad.mit.edu	37	20	43355792	43355792	+	Silent	SNP	G	G	A	rs537131485		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr20:43355792G>A	ENST00000372868.2	+	5	940	c.597G>A	c.(595-597)acG>acA	p.T199T	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.T199T|WISP2_ENST00000372865.4_Missense_Mutation_p.R117Q|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	199	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				AATGGAGCACGGCCTGGGGAC	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17076	0.0		0.0	False		,,,				2504	0.0					ENST00000372865.4																			0				skin(1)	1						c.(349-351)cGg>cAg		WNT1 inducible signaling pathway protein 2							66.0	63.0	64.0					20																	43355792		2203	4299	6502	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355792G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.597G>A	20.37:g.43355792G>A						RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Silent_p.T199T|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372868.2_Silent_p.T199T	p.R117Q			O76076	WISP2_HUMAN			3	858	+		Myeloproliferative disorder(115;0.0122)	108			VWFC.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.350G>A	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	4.661	0.122947	0.08931	.	.	ENSG00000064205	ENST00000372865	T	0.68025	-0.3	4.05	-8.09	0.01090	.	.	.	.	.	T	0.45975	0.1369	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.16041	-1.0416	8	0.54805	T	0.06	-19.9083	3.0031	0.06020	0.2901:0.0725:0.3547:0.2827	.	117	Q6PEG3	.	Q	117	ENSP00000361956:R117Q	ENSP00000361956:R117Q	R	+	2	0	WISP2	42789206	0.000000	0.05858	0.433000	0.26760	0.085000	0.17905	-5.348000	0.00129	-3.243000	0.00206	-2.317000	0.00253	CGG		0.652	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		6	63	0	0	0	1	0	6	63				
ETS2	2114	broad.mit.edu	37	21	40190520	40190520	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr21:40190520T>C	ENST00000360214.3	+	8	1221	c.761T>C	c.(760-762)gTc>gCc	p.V254A	ETS2_ENST00000360938.3_Missense_Mutation_p.V254A	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	254					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TACTGCTCTGTCAGTCAGGAC	0.512																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(760-762)gTc>gCc		v-ets avian erythroblastosis virus E26 oncogene homolog 2							206.0	198.0	201.0					21																	40190520		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40190520T>C		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.761T>C	21.37:g.40190520T>C	ENSP00000353344:p.Val254Ala					ETS2_ENST00000360938.3_Missense_Mutation_p.V254A	p.V254A	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			8	1221	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	254					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.761T>C	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	T	5.758	0.324188	0.10900	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000456966	T;T;T	0.32988	2.59;2.59;1.43	6.16	5.02	0.67125	.	0.489675	0.21723	N	0.070100	T	0.20901	0.0503	L	0.43152	1.355	0.09310	N	1	B;B	0.23377	0.084;0.008	B;B	0.18561	0.022;0.002	T	0.33675	-0.9859	10	0.02654	T	1	.	9.0112	0.36142	0.0:0.1414:0.0:0.8586	.	254;254	P15036;C9JAG2	ETS2_HUMAN;.	A	254	ENSP00000353344:V254A;ENSP00000354194:V254A;ENSP00000411086:V254A	ENSP00000353344:V254A	V	+	2	0	ETS2	39112390	0.014000	0.17966	0.004000	0.12327	0.187000	0.23431	2.017000	0.40981	1.157000	0.42530	0.528000	0.53228	GTC		0.512	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			25	216	0	0	0	1	0	25	216				
RPS27A	6233	broad.mit.edu	37	2	55462648	55462648	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:55462648T>C	ENST00000272317.6	+	6	730	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	CLHC1_ENST00000406076.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.F136L|RPS27A_ENST00000402285.3_Missense_Mutation_p.F136L	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	136					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						GGCAAGTCACTTTGACAGACA	0.403																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(406-408)Ttt>Ctt		ribosomal protein S27a							117.0	107.0	110.0					2																	55462648		2203	4298	6501	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462648T>C	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.406T>C	2.37:g.55462648T>C	ENSP00000272317:p.Phe136Leu					RPS27A_ENST00000402285.3_Missense_Mutation_p.F136L|RPS27A_ENST00000404735.1_Missense_Mutation_p.F136L	p.F136L	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			6	730	+			136					P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.406T>C	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662792	0.67700	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000404735	T;T;T	0.74842	-0.88;-0.88;-0.88	4.68	4.68	0.58851	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	L	0.35644	1.08	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.76091	-0.3086	10	0.26408	T	0.33	.	14.1376	0.65297	0.0:0.0:0.0:1.0	.	136	P62979	RS27A_HUMAN	L	136	ENSP00000383981:F136L;ENSP00000272317:F136L;ENSP00000385659:F136L	ENSP00000272317:F136L	F	+	1	0	RPS27A	55316152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.864000	0.87037	1.740000	0.51718	0.482000	0.46254	TTT		0.403	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			5	106	0	0	0	1	0	5	106				
SIGLEC6	946	broad.mit.edu	37	19	52034613	52034613	+	Silent	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52034613C>A	ENST00000425629.3	-	2	382	c.228G>T	c.(226-228)gtG>gtT	p.V76V	SIGLEC6_ENST00000343300.4_Silent_p.V76V|SIGLEC6_ENST00000346477.3_Silent_p.V76V|SIGLEC6_ENST00000436458.1_Silent_p.V40V|SIGLEC6_ENST00000391797.3_Silent_p.V76V|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Silent_p.V76V	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	76	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGTTTGTGGCCACTGGAACAT	0.582																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(226-228)gtG>gtT		sialic acid binding Ig-like lectin 6							64.0	70.0	68.0					19																	52034613		2197	4299	6496	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034613C>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.228G>T	19.37:g.52034613C>A						SIGLEC6_ENST00000425629.3_Silent_p.V76V|SIGLEC6_ENST00000343300.4_Silent_p.V76V|SIGLEC6_ENST00000391797.3_Silent_p.V76V|SIGLEC6_ENST00000436458.1_Silent_p.V40V|SIGLEC6_ENST00000359982.4_Silent_p.V76V	p.V76V	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	296	-		all_neural(266;0.0199)	76			Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.228G>T	CCDS12834.3																																																																																				0.582	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		25	26	1	0	3.01185e-09	1	3.50026e-09	25	26				
CXADRP3	440224	broad.mit.edu	37	18	14478155	14478155	+	lincRNA	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:14478155C>T	ENST00000581457.1	-	0	1753					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		ACAGATGAGACGTATGGAGGC	0.413																																						ENST00000581457.1																			0																																																			0							g.chr18:14478155C>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478155C>T								NR_024076.1						0	1753	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.413	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		11	16	0	0	0	1	0	11	16				
FASN	2194	broad.mit.edu	37	17	80045904	80045904	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:80045904A>G	ENST00000306749.2	-	18	3010	c.2792T>C	c.(2791-2793)gTg>gCg	p.V931A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	931					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)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCCAGGGACACTGTCCCTGC	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2791-2793)gTg>gCg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						51.0	51.0	51.0					17																	80045904		2201	4299	6500	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045904A>G	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2792T>C	17.37:g.80045904A>G	ENSP00000304592:p.Val931Ala						p.V931A	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		18	3010	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		931					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.2792T>C	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	8.986	0.976591	0.18736	.	.	ENSG00000169710	ENST00000306749	T	0.29655	1.56	3.86	3.86	0.44501	.	0.721379	0.12390	N	0.473129	T	0.42743	0.1216	M	0.85630	2.765	0.09310	N	1	B	0.30104	0.268	B	0.37692	0.256	T	0.45789	-0.9237	10	0.72032	D	0.01	-16.5527	7.8377	0.29380	0.8406:0.0:0.1594:0.0	.	931	P49327	FAS_HUMAN	A	931	ENSP00000304592:V931A	ENSP00000304592:V931A	V	-	2	0	FASN	77639193	0.004000	0.15560	0.012000	0.15200	0.050000	0.14768	2.046000	0.41260	1.625000	0.50366	0.379000	0.24179	GTG		0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		21	27	0	0	0	1	0	21	27				
HECW2	57520	broad.mit.edu	37	2	197182005	197182005	+	Silent	SNP	G	G	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:197182005G>C	ENST00000260983.3	-	10	2609	c.2427C>G	c.(2425-2427)ctC>ctG	p.L809L	HECW2_ENST00000409111.1_Silent_p.L453L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	809	Interaction with TP73.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACTTGGTGGGAGAGCCTCGT	0.522																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2425-2427)ctC>ctG		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							80.0	66.0	70.0					2																	197182005		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197182005G>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2427C>G	2.37:g.197182005G>C						HECW2_ENST00000409111.1_Silent_p.L453L	p.L809L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			10	2609	-			809			Interaction with TP73.|WW 1.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.2427C>G	CCDS33354.1																																																																																				0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		3	6	0	0	0	1	0	3	6				
CDHR5	53841	broad.mit.edu	37	11	618674	618674	+	Missense_Mutation	SNP	C	C	T	rs140290184	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:618674C>T	ENST00000358353.3	-	14	2207	c.1885G>A	c.(1885-1887)Ggt>Agt	p.G629S	CDHR5_ENST00000397542.2_Missense_Mutation_p.G629S|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	629	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGCCCCCACCGGGTGTGGTT	0.652													N|||	2	0.000399361	0.0	0.0014	5008	,	,		17291	0.001		0.0	False		,,,				2504	0.0					ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1885-1887)Ggt>Agt		cadherin-related family member 5							144.0	144.0	144.0					11																	618674		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618674C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1885G>A	11.37:g.618674C>T	ENSP00000351118:p.Gly629Ser					CDHR5_ENST00000397542.2_Missense_Mutation_p.G629S|CDHR5_ENST00000349570.7_Intron	p.G629S			Q9HBB8	CDHR5_HUMAN			14	2207	-			629			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1885G>A	CCDS7707.1	104	0.047619047619047616	30	0.06097560975609756	31	0.0856353591160221	20	0.03496503496503497	23	0.030343007915567283	N	5.094	0.203035	0.09704	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.39056	1.1;1.1	1.43	-2.3	0.06785	.	.	.	.	.	T	0.01765	0.0056	L	0.34521	1.04	0.09310	N	1	D;P	0.89917	1.0;0.874	D;B	0.71184	0.972;0.099	T	0.06661	-1.0814	9	0.22706	T	0.39	.	1.4964	0.02467	0.3244:0.3337:0.0:0.3419	.	623;629	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	S	629	ENSP00000380676:G629S;ENSP00000351118:G629S	ENSP00000351118:G629S	G	-	1	0	CDHR5	608674	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.105000	0.03323	-0.163000	0.10946	0.400000	0.26472	GGT		0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		43	290	0	0	0	1	0	43	290				
TBXAS1	6916	broad.mit.edu	37	7	139611031	139611031	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:139611031C>G	ENST00000455353.1	+	4	381	c.244C>G	c.(244-246)Ctt>Gtt	p.L82V	TBXAS1_ENST00000448866.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L82V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L83V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.L15V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L83V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L83V			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	82			L -> P (in GHDD). {ECO:0000269|PubMed:18264100}.		arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CAGGTACTATCTTGGTCGTCG	0.378																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(247-249)Ctt>Gtt		thromboxane A synthase 1 (platelet)							223.0	197.0	206.0					7																	139611031		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139611031C>G	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.244C>G	7.37:g.139611031C>G	ENSP00000391567:p.Leu82Val					TBXAS1_ENST00000455353.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000425687.1_Missense_Mutation_p.L15V|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L83V|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L82V|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L83V|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L82V|TBXAS1_ENST00000462275.1_3'UTR	p.L83V	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			8	785	+	Melanoma(164;0.0142)		82					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.247C>G		.	.	.	.	.	.	.	.	.	.	C	14.50	2.555175	0.45487	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.55;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.79	4.92	0.64577	.	0.225081	0.39615	N	0.001309	T	0.65450	0.2692	M	0.67953	2.075	0.40521	D	0.980839	B;B;D;B;P;B;B;B	0.55385	0.132;0.362;0.971;0.1;0.891;0.051;0.033;0.033	B;B;P;B;B;B;B;B	0.44359	0.098;0.22;0.447;0.06;0.364;0.125;0.042;0.026	T	0.64188	-0.6466	10	0.15066	T	0.55	.	7.7528	0.28907	0.1609:0.7572:0.0:0.082	.	83;63;83;34;15;83;83;82	B7Z6W1;B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;.;THAS_HUMAN	V	15;83;82;82;83;83;83;82;82;82;82;83	ENSP00000388736:L15V;ENSP00000263552:L83V;ENSP00000388612:L82V;ENSP00000338087:L82V;ENSP00000389414:L83V;ENSP00000392361:L83V;ENSP00000392702:L83V;ENSP00000402536:L82V;ENSP00000391567:L82V;ENSP00000411274:L82V;ENSP00000411326:L82V;ENSP00000444626:L83V	ENSP00000263552:L83V	L	+	1	0	TBXAS1	139257500	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	1.561000	0.36342	1.473000	0.48159	0.491000	0.48974	CTT		0.378	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			7	95	0	0	0	1	0	7	95				
RYR1	6261	broad.mit.edu	37	19	39063928	39063928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:39063928C>T	ENST00000359596.3	+	96	14110	c.14110C>T	c.(14110-14112)Cga>Tga	p.R4704*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.R4699*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.R4699*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4704					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGTGGGACCGACTGGTGCT	0.612																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14095-14097)Cga>Tga		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						97.0	77.0	84.0					19																	39063928		2203	4300	6503	SO:0001587	stop_gained	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39063928C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14110C>T	19.37:g.39063928C>T	ENSP00000352608:p.Arg4704*					RYR1_ENST00000360985.3_Nonsense_Mutation_p.R4699*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.R4704*	p.R4699*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		95	14226	+	all_cancers(60;7.91e-06)		4704					Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	37	c.14095C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	55	25.029122	0.99963	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.52	4.52	0.55395	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0169	0.86422	0.0:1.0:0.0:0.0	.	.	.	.	X	4704;4699;4699	.	ENSP00000347667:R4699X	R	+	1	2	RYR1	43755768	0.989000	0.36119	1.000000	0.80357	0.982000	0.71751	0.465000	0.22004	2.356000	0.79943	0.462000	0.41574	CGA		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	9	0	0	0	1	0	15	9				
PRIM1	5557	broad.mit.edu	37	12	57135548	57135548	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:57135548T>A	ENST00000338193.6	-	8	858	c.822A>T	c.(820-822)aaA>aaT	p.K274N		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	274					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TGCTGGCTACTTTCTTCAAGT	0.363																																						ENST00000338193.6																			0				kidney(1)|lung(6)|prostate(1)	8						c.(820-822)aaA>aaT		primase, DNA, polypeptide 1 (49kDa)							221.0	213.0	216.0					12																	57135548		1868	4120	5988	SO:0001583	missense	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57135548T>A	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.822A>T	12.37:g.57135548T>A	ENSP00000350491:p.Lys274Asn						p.K274N	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN			8	858	-			274						Missense_Mutation	SNP	ENST00000338193.6	37	c.822A>T	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	8.516	0.867588	0.17250	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000549549;ENST00000550770	T;T	0.45668	0.89;0.89	5.13	1.45	0.22620	.	0.335991	0.33916	N	0.004440	T	0.25044	0.0608	L	0.41356	1.27	0.24069	N	0.995988	B	0.02656	0.0	B	0.08055	0.003	T	0.15037	-1.0451	10	0.13108	T	0.6	-8.4393	3.9649	0.09426	0.0:0.1882:0.1832:0.6286	.	274	P49642	PRI1_HUMAN	N	281;274;55;277	ENSP00000350491:K274N;ENSP00000450185:K277N	ENSP00000350491:K274N	K	-	3	2	PRIM1	55421815	0.237000	0.23815	0.238000	0.24106	0.545000	0.35147	0.376000	0.20535	0.359000	0.24239	0.533000	0.62120	AAA		0.363	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		73	94	0	0	0	1	0	73	94				
SCN11A	11280	broad.mit.edu	37	3	38945493	38945493	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:38945493C>A	ENST00000302328.3	-	12	1903	c.1705G>T	c.(1705-1707)Gtc>Ttc	p.V569F	SCN11A_ENST00000444237.2_Missense_Mutation_p.V569F|SCN11A_ENST00000456224.3_Missense_Mutation_p.V569F|SCN11A_ENST00000450244.1_Missense_Mutation_p.V569F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	569					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCTCAGGACCTTCTTAACG	0.498																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1705-1707)Gtc>Ttc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						179.0	151.0	160.0					3																	38945493		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38945493C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1705G>T	3.37:g.38945493C>A	ENSP00000307599:p.Val569Phe					SCN11A_ENST00000444237.2_Missense_Mutation_p.V569F|SCN11A_ENST00000450244.1_Missense_Mutation_p.V569F|SCN11A_ENST00000456224.3_Missense_Mutation_p.V569F	p.V569F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	12	1903	-			569					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1705G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974373	0.18736	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96168	-3.93;-3.93;-3.88;-3.8	5.58	4.7	0.59300	.	1.425950	0.04075	N	0.308651	D	0.89743	0.6803	N	0.20357	0.565	0.19575	N	0.999965	B	0.12630	0.006	B	0.09377	0.004	T	0.77477	-0.2573	10	0.02654	T	1	.	8.4783	0.33027	0.0:0.7827:0.0:0.2173	.	569	Q9UI33	SCNBA_HUMAN	F	569	ENSP00000307599:V569F;ENSP00000400945:V569F;ENSP00000416757:V569F;ENSP00000408028:V569F	ENSP00000307599:V569F	V	-	1	0	SCN11A	38920497	0.000000	0.05858	0.971000	0.41717	0.847000	0.48162	-0.360000	0.07622	2.628000	0.89032	0.585000	0.79938	GTC		0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		25	23	1	0	2.41591e-17	1	2.96812e-17	25	23				
ZFHX3	463	broad.mit.edu	37	16	72822210	72822210	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:72822210T>C	ENST00000268489.5	-	10	10637	c.9965A>G	c.(9964-9966)cAg>cGg	p.Q3322R	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q2408R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3322					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCCAGGGATCTGGGGAGCATA	0.597																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9964-9966)cAg>cGg		zinc finger homeobox 3							35.0	36.0	36.0					16																	72822210		2198	4299	6497	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822210T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9965A>G	16.37:g.72822210T>C	ENSP00000268489:p.Gln3322Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q2408R	p.Q3322R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10637	-		Ovarian(137;0.13)	3322					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9965A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.409307	0.42715	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76060	-0.99;-0.95	5.34	5.34	0.76211	.	0.000000	0.47852	D	0.000219	D	0.83188	0.5200	L	0.60455	1.87	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	D	0.85008	0.0904	10	0.72032	D	0.01	.	15.3245	0.74150	0.0:0.0:0.0:1.0	.	3322	Q15911	ZFHX3_HUMAN	R	3322;2408	ENSP00000268489:Q3322R;ENSP00000438926:Q2408R	ENSP00000268489:Q3322R	Q	-	2	0	ZFHX3	71379711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.930000	0.87610	2.028000	0.59812	0.455000	0.32223	CAG		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		19	19	0	0	0	1	0	19	19				
CDKL5	6792	broad.mit.edu	37	X	18622720	18622720	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:18622720G>A	ENST00000379989.3	+	13	1961	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.R559Q|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	559					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GACTCACGTCGAACCACAACC	0.517																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1675-1677)cGa>cAa		cyclin-dependent kinase-like 5							135.0	117.0	123.0					X																	18622720		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622720G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1676G>A	X.37:g.18622720G>A	ENSP00000369325:p.Arg559Gln					CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.R559Q	p.R559Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	1961	+	Hepatocellular(33;0.183)		559					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1676G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640995	0.87859	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.80480	-1.38;-1.38	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	L	0.34521	1.04	0.37413	D	0.913339	D	0.76494	0.999	D	0.72625	0.978	D	0.88446	0.3045	10	0.87932	D	0	-12.7019	19.2517	0.93926	0.0:0.0:1.0:0.0	.	559	O76039	CDKL5_HUMAN	Q	559	ENSP00000369332:R559Q;ENSP00000369325:R559Q	ENSP00000369325:R559Q	R	+	2	0	CDKL5	18532641	1.000000	0.71417	0.937000	0.37676	0.919000	0.55068	2.541000	0.45735	2.498000	0.84270	0.600000	0.82982	CGA		0.517	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		60	112	0	0	0	1	0	60	112				
MACF1	23499	broad.mit.edu	37	1	39806385	39806385	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:39806385A>G	ENST00000372915.3	+	38	10529	c.10442A>G	c.(10441-10443)gAa>gGa	p.E3481G	MACF1_ENST00000564288.1_Missense_Mutation_p.E3476G|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3481					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGGAAATAGAAAAGGTAGCA	0.398																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10426-10428)gAa>gGa		microtubule-actin crosslinking factor 1							51.0	52.0	52.0					1																	39806385		2203	4299	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39806385A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10442A>G	1.37:g.39806385A>G	ENSP00000362006:p.Glu3481Gly					MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3513G|MACF1_ENST00000372915.3_Missense_Mutation_p.E3481G|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E1916G|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron	p.E3476G			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		39	11204	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3481					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.10427A>G		.	.	.	.	.	.	.	.	.	.	A	9.506	1.104593	0.20632	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.34275	1.37;1.37	5.24	4.09	0.47781	.	0.431170	0.21289	N	0.077008	T	0.32315	0.0825	L	0.46157	1.445	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.05666	-1.0871	10	0.41790	T	0.15	.	12.1466	0.54026	0.8564:0.1436:0.0:0.0	.	3481	Q9UPN3	MACF1_HUMAN	G	3481;1916	ENSP00000362006:E3481G;ENSP00000289893:E1916G	ENSP00000289893:E1916G	E	+	2	0	MACF1	39578972	0.996000	0.38824	0.320000	0.25306	0.584000	0.36387	3.963000	0.56773	0.802000	0.34089	0.383000	0.25322	GAA		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	2	0	0	0	1	0	14	2				
RASGRP1	10125	broad.mit.edu	37	15	38852091	38852091	+	Missense_Mutation	SNP	C	C	T	rs370888491		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:38852091C>T	ENST00000310803.5	-	2	328	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	51					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCCAGAGACACCATCATTCGG	0.527																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(151-153)Gtg>Atg		RAS guanyl releasing protein 1 (calcium and DAG-regulated)		C	MET/VAL,MET/VAL	1,3921		0,1,1960	77.0	81.0	80.0		151,151	4.1	1.0	15		80	1,8317		0,1,4158	no	missense,missense	RASGRP1	NM_001128602.1,NM_005739.3	21,21	0,2,6118	TT,TC,CC		0.012,0.0255,0.0163	benign,benign	51/763,51/798	38852091	2,12238	1961	4159	6120	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38852091C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.151G>A	15.37:g.38852091C>T	ENSP00000310244:p.Val51Met					RASGRP1_ENST00000539159.1_Missense_Mutation_p.V3M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V102M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V51M|RASGRP1_ENST00000450598.2_Missense_Mutation_p.V51M	p.V51M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	2	328	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	51					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.151G>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	2.056	-0.416492	0.04766	2.55E-4	1.2E-4	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.78707	1.52;1.52;-1.2;1.52	4.97	4.05	0.47172	Ras guanine nucleotide exchange factor, domain (1);	0.142736	0.64402	N	0.000013	T	0.52175	0.1718	N	0.11560	0.145	0.35301	D	0.783015	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.52830	-0.8523	10	0.02654	T	1	-21.5257	8.5533	0.33465	0.0:0.7863:0.0:0.2137	.	51;51	O95267;O95267-2	GRP1_HUMAN;.	M	51;51;51;51;3;51;51	ENSP00000310244:V51M;ENSP00000388540:V51M;ENSP00000444762:V3M;ENSP00000413105:V51M	ENSP00000310244:V51M	V	-	1	0	RASGRP1	36639383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.244000	0.51399	2.741000	0.93983	0.655000	0.94253	GTG		0.527	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		16	27	0	0	0	1	0	16	27				
ABCA12	26154	broad.mit.edu	37	2	215875098	215875098	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:215875098A>G	ENST00000272895.7	-	18	2648	c.2429T>C	c.(2428-2430)tTg>tCg	p.L810S	ABCA12_ENST00000389661.4_Missense_Mutation_p.L492S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	810					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGGTGCATACAAAATTCTTCC	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2428-2430)tTg>tCg		ATP-binding cassette, sub-family A (ABC1), member 12							122.0	119.0	120.0					2																	215875098		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215875098A>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2429T>C	2.37:g.215875098A>G	ENSP00000272895:p.Leu810Ser					ABCA12_ENST00000389661.4_Missense_Mutation_p.L492S	p.L810S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	18	2648	-		Renal(323;0.127)	810					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2429T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145282	0.77888	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.15372	2.43;2.43	5.38	5.38	0.77491	.	0.325827	0.22569	N	0.058363	T	0.41259	0.1151	M	0.68952	2.095	0.80722	D	1	D;D	0.63880	0.983;0.993	P;D	0.72075	0.886;0.976	T	0.27434	-1.0074	10	0.87932	D	0	.	15.6671	0.77238	1.0:0.0:0.0:0.0	.	810;492	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	810;492	ENSP00000272895:L810S;ENSP00000374312:L492S	ENSP00000272895:L810S	L	-	2	0	ABCA12	215583343	1.000000	0.71417	0.970000	0.41538	0.890000	0.51754	7.552000	0.82192	2.154000	0.67381	0.482000	0.46254	TTG		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		10	53	0	0	0	1	0	10	53				
C1orf116	79098	broad.mit.edu	37	1	207196624	207196624	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:207196624C>A	ENST00000359470.5	-	4	734	c.485G>T	c.(484-486)gGg>gTg	p.G162V	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	162						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CGCAAGCCTCCCCGGTTCTCC	0.602																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(484-486)gGg>gTg		chromosome 1 open reading frame 116							51.0	54.0	53.0					1																	207196624		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207196624C>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.485G>T	1.37:g.207196624C>A	ENSP00000352447:p.Gly162Val					C1orf116_ENST00000461135.2_5'UTR	p.G162V	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	734	-	Prostate(682;0.19)		162					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.485G>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732269	0.15507	.	.	ENSG00000182795	ENST00000359470	T	0.08370	3.1	4.31	-2.13	0.07144	.	1.365360	0.04183	N	0.326947	T	0.03739	0.0106	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.39272	-0.9622	10	0.30078	T	0.28	-1.7343	0.8464	0.01162	0.1635:0.2039:0.3362:0.2964	.	162	Q9BW04	SARG_HUMAN	V	162	ENSP00000352447:G162V	ENSP00000352447:G162V	G	-	2	0	C1orf116	205263247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.340000	0.02650	-0.284000	0.09102	-1.073000	0.02249	GGG		0.602	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		23	57	1	0	1.50039e-11	1	1.79213e-11	23	57				
GPR128	84873	broad.mit.edu	37	3	100374763	100374763	+	Missense_Mutation	SNP	G	G	T	rs552262431		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:100374763G>T	ENST00000273352.3	+	13	2015	c.1747G>T	c.(1747-1749)Gct>Tct	p.A583S	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A288S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	583					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATAGTAGTGGCTATAACAGT	0.318													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18737	0.0		0.0	False		,,,				2504	0.0				Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1747-1749)Gct>Tct		G protein-coupled receptor 128							108.0	116.0	113.0					3																	100374763		2203	4299	6502	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100374763G>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1747G>T	3.37:g.100374763G>T	ENSP00000273352:p.Ala583Ser					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A288S	p.A583S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			13	2015	+			583					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1747G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	8.923	0.961470	0.18583	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.36520	1.25;1.25	5.72	1.3	0.21679	GPCR, family 2-like (1);	0.759895	0.12128	N	0.497034	T	0.39036	0.1063	L	0.51422	1.61	0.09310	N	1	P;P	0.38582	0.571;0.638	B;B	0.44224	0.285;0.444	T	0.27297	-1.0078	10	0.25106	T	0.35	.	14.5527	0.68078	0.0:0.0:0.5028:0.4972	.	288;583	E9PHI0;Q96K78	.;GP128_HUMAN	S	583;288	ENSP00000273352:A583S;ENSP00000419788:A288S	ENSP00000273352:A583S	A	+	1	0	GPR128	101857453	0.353000	0.24904	0.008000	0.14137	0.021000	0.10359	1.166000	0.31834	0.308000	0.22923	0.563000	0.77884	GCT		0.318	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			6	58	1	0	0.000157383	1	0.000170609	6	58				
NFATC3	4775	broad.mit.edu	37	16	68156046	68156046	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:68156046A>T	ENST00000346183.3	+	2	284	c.260A>T	c.(259-261)gAa>gTa	p.E87V	NFATC3_ENST00000329524.4_Missense_Mutation_p.E87V|NFATC3_ENST00000349223.5_Missense_Mutation_p.E87V|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.E87V	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	87					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AAAAACTATGAAGGAACTTGT	0.403																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(259-261)gAa>gTa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							161.0	146.0	151.0					16																	68156046		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156046A>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.260A>T	16.37:g.68156046A>T	ENSP00000300659:p.Glu87Val					NFATC3_ENST00000575270.1_Missense_Mutation_p.E87V|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.E87V|NFATC3_ENST00000329524.4_Missense_Mutation_p.E87V|RP11-67A1.2_ENST00000548144.1_RNA	p.E87V	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	484	+		Ovarian(137;0.0563)	87					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.260A>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059633	0.76074	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.10288	2.89;2.89;2.89	5.71	5.71	0.89125	.	0.303897	0.37053	N	0.002264	T	0.17023	0.0409	L	0.59436	1.845	0.51012	D	0.999908	P;B;P;P	0.46784	0.678;0.348;0.678;0.884	B;B;B;B	0.43809	0.432;0.156;0.432;0.432	T	0.00553	-1.1674	10	0.51188	T	0.08	-2.6775	16.3264	0.82983	1.0:0.0:0.0:0.0	.	87;87;87;87	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	V	87	ENSP00000264008:E87V;ENSP00000300659:E87V;ENSP00000331324:E87V	ENSP00000331324:E87V	E	+	2	0	NFATC3	66713547	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.344000	0.72991	2.313000	0.78055	0.456000	0.33151	GAA		0.403	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		7	89	0	0	0	1	0	7	89				
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(160-162)cGg>cAg		formyl peptide receptor 1	Nedocromil(DB00716)	C	GLN/ARG,GLN/ARG	2,4404		0,2,2201	159.0	125.0	136.0		161,161	2.6	0.6	19	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	54/351,54/351	52250087	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250087C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.161G>A	19.37:g.52250087C>T	ENSP00000471493:p.Arg54Gln					FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	302	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	54					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.161G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	16.78	3.217300	0.58560	4.54E-4	0.0	ENSG00000171051	ENST00000304748	T	0.40756	1.02	3.67	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.431779	0.22832	N	0.055096	T	0.36358	0.0964	L	0.46741	1.465	0.30025	N	0.813958	P	0.44659	0.84	P	0.45343	0.477	T	0.25047	-1.0143	10	0.35671	T	0.21	.	6.6407	0.22906	0.0:0.7667:0.0:0.2333	.	54	P21462	FPR1_HUMAN	Q	54	ENSP00000302707:R54Q	ENSP00000302707:R54Q	R	-	2	0	FPR1	56941899	0.982000	0.34865	0.578000	0.28575	0.877000	0.50540	1.505000	0.35736	0.834000	0.34852	-0.244000	0.11960	CGG		0.527	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		20	24	0	0	0	1	0	20	24				
PRPH	5630	broad.mit.edu	37	12	49690976	49690976	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:49690976C>A	ENST00000257860.4	+	5	2415	c.916C>A	c.(916-918)Cgc>Agc	p.R306S	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CGAGGCCCTGCGCCAGGCCAA	0.667											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257860.4																			0				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(916-918)Cgc>Agc		peripherin							89.0	91.0	90.0					12																	49690976		2203	4300	6503	SO:0001583	missense	5630						structural molecule activity	g.chr12:49690976C>A		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.916C>A	12.37:g.49690976C>A	ENSP00000257860:p.Arg306Ser		OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RP11-161H23.9_ENST00000553259.1_RNA	p.R306S	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN			5	2415	+			306			Coil 2.|Rod.		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	c.916C>A	CCDS8783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.48|18.48	3.632294|3.632294	0.67015|0.67015	.|.	.|.	ENSG00000135406|ENSG00000135406	ENST00000532332|ENST00000257860	.|D	.|0.89415	.|-2.51	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Filament (1);	.|0.000000	.|0.39615	.|N	.|0.001318	D|D	0.95290|0.95290	0.8472|0.8472	M|M	0.85373|0.85373	2.75|2.75	0.52099|0.52099	D|D	0.999947|0.999947	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	D|D	0.95264|0.95264	0.8371|0.8371	5|10	.|0.87932	.|D	.|0	.|.	19.2148|19.2148	0.93772|0.93772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|306	.|P41219	.|PERI_HUMAN	E|S	34|306	.|ENSP00000257860:R306S	.|ENSP00000257860:R306S	A|R	+|+	2|1	0|0	PRPH|PRPH	47977243|47977243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.079000|0.079000	0.17450|0.17450	3.814000|3.814000	0.55643|0.55643	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.667	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		63	54	1	0	6.20203e-27	1	7.84375e-27	63	54				
OOSP2	219990	broad.mit.edu	37	11	59811058	59811058	+	Silent	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:59811058C>A	ENST00000278855.2	+	2	366	c.181C>A	c.(181-183)Cgg>Agg	p.R61R	PLAC1L_ENST00000532905.1_Silent_p.R30R	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		61						extracellular region (GO:0005576)		p.R61R(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						CCCTGCAAATCGGATACATAC	0.388																																						ENST00000278855.2																			1	Substitution - coding silent(1)	p.R61R(1)	lung(1)	breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(181-183)Cgg>Agg									108.0	104.0	105.0					11																	59811058		2201	4295	6496	SO:0001819	synonymous_variant	0					extracellular region		g.chr11:59811058C>A																												ENST00000278855.2:c.181C>A	11.37:g.59811058C>A						PLAC1L_ENST00000532905.1_Silent_p.R30R	p.R61R	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			2	366	+			61					E9PJA4|Q8N9U6	Silent	SNP	ENST00000278855.2	37	c.181C>A	CCDS7979.1																																																																																				0.388	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			33	25	1	0	2.80507e-11	1	3.31976e-11	33	25				
KCTD17	79734	broad.mit.edu	37	22	37457617	37457617	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:37457617G>A	ENST00000403888.3	+	8	845	c.844G>A	c.(844-846)Gca>Aca	p.A282T	KCTD17_ENST00000402077.3_Missense_Mutation_p.A258T	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	282	Pro-rich.				protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GGCTGAGCTTGCAGTGAGGGC	0.692																																						ENST00000403888.3																			0				NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						c.(844-846)Gca>Aca		potassium channel tetramerization domain containing 17							62.0	46.0	51.0					22																	37457617		2203	4300	6503	SO:0001583	missense	79734					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr22:37457617G>A	BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.844G>A	22.37:g.37457617G>A	ENSP00000385096:p.Ala282Thr					KCTD17_ENST00000402077.3_Missense_Mutation_p.A258T	p.A282T			Q8N5Z5	KCD17_HUMAN			8	845	+			282			Pro-rich.		B0QYA9|B0QYB0|O95517	Missense_Mutation	SNP	ENST00000403888.3	37	c.844G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.565667|2.565667	0.45694|0.45694	.|.	.|.	ENSG00000100379|ENSG00000100379	ENST00000402077;ENST00000403888|ENST00000456470	T;T|.	0.47528|.	0.84;0.91|.	4.35|4.35	1.84|1.84	0.25277|0.25277	.|.	2.499060|.	0.02578|.	N|.	0.098487|.	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.21905|.	0.062;0.037|.	B;B|.	0.19391|.	0.025;0.011|.	T|T	0.15925|0.15925	-1.0420|-1.0420	10|5	0.66056|.	D|.	0.02|.	-2.335|-2.335	5.8838|5.8838	0.18870|0.18870	0.0:0.1547:0.4659:0.3794|0.0:0.1547:0.4659:0.3794	.|.	258;282|.	Q8N5Z5-2;Q8N5Z5|.	.;KCD17_HUMAN|.	T|Y	258;282|179	ENSP00000384391:A258T;ENSP00000385096:A282T|.	ENSP00000384391:A258T|.	A|C	+|+	1|2	0|0	KCTD17|KCTD17	35787563|35787563	0.085000|0.085000	0.21516|0.21516	0.441000|0.441000	0.26858|0.26858	0.995000|0.995000	0.86356|0.86356	0.818000|0.818000	0.27295|0.27295	1.961000|1.961000	0.56991|0.56991	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.692	KCTD17-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318781.1	NM_024681		10	11	0	0	0	1	0	10	11				
CUL5	8065	broad.mit.edu	37	11	107904570	107904570	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:107904570C>T	ENST00000393094.2	+	2	683	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	23					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GGATTTTATGCGCCCGATTGT	0.328																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(67-69)Cgc>Tgc		cullin 5							117.0	114.0	115.0					11																	107904570		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107904570C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.67C>T	11.37:g.107904570C>T	ENSP00000376808:p.Arg23Cys						p.R23C	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	2	683	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	23					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.67C>T	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918508	0.73098	.	.	ENSG00000166266	ENST00000393094	T	0.32988	1.43	5.36	3.49	0.39957	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.051978	0.85682	D	0.000000	T	0.47116	0.1428	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	P	0.60012	0.867	T	0.44298	-0.9337	10	0.87932	D	0	-2.8342	6.0956	0.20019	0.1397:0.6539:0.1346:0.0717	.	23	Q93034	CUL5_HUMAN	C	23	ENSP00000376808:R23C	ENSP00000376808:R23C	R	+	1	0	CUL5	107409780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.454000	0.66651	0.652000	0.30806	0.555000	0.69702	CGC		0.328	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			3	31	0	0	0	1	0	3	31				
SSTR3	6753	broad.mit.edu	37	22	37602752	37602752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:37602752C>T	ENST00000328544.3	-	2	1624	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	SSTR3_ENST00000402501.1_Missense_Mutation_p.G364E	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	364					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CCCCTTGCCCCCCTCCCTGCT	0.701																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(1090-1092)gGg>gAg		somatostatin receptor 3							36.0	33.0	34.0					22																	37602752		2203	4298	6501	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602752C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1091G>A	22.37:g.37602752C>T	ENSP00000330138:p.Gly364Glu					SSTR3_ENST00000402501.1_Missense_Mutation_p.G364E	p.G364E	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1624	-			364					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.1091G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.596119	0.00125	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.70869	-0.52;-0.52	5.21	-10.3	0.00346	.	3.702590	0.00582	N	0.000333	T	0.41511	0.1162	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	10	0.08837	T	0.75	.	3.3345	0.07096	0.1804:0.4244:0.1766:0.2186	.	364	P32745	SSR3_HUMAN	E	364	ENSP00000330138:G364E;ENSP00000384904:G364E	ENSP00000330138:G364E	G	-	2	0	SSTR3	35932698	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.521000	0.06245	-1.477000	0.01872	-0.290000	0.09829	GGG		0.701	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			3	22	0	0	0	1	0	3	22				
HHIPL2	79802	broad.mit.edu	37	1	222721257	222721257	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:222721257G>T	ENST00000343410.6	-	1	188	c.130C>A	c.(130-132)Cag>Aag	p.Q44K		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	44					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAGGCACTGGGGGTGTCCC	0.607																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(130-132)Cag>Aag		HHIP-like 2							32.0	36.0	35.0					1																	222721257		1917	4132	6049	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721257G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.130C>A	1.37:g.222721257G>T	ENSP00000342118:p.Gln44Lys						p.Q44K	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	188	-			44					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.130C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464511	0.84425	.	.	ENSG00000143512	ENST00000343410	T	0.55930	0.49	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.88310	2.945	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.83037	-0.0159	10	0.72032	D	0.01	-18.8762	18.1545	0.89687	0.0:0.0:1.0:0.0	.	44	Q6UWX4	HIPL2_HUMAN	K	44	ENSP00000342118:Q44K	ENSP00000342118:Q44K	Q	-	1	0	HHIPL2	220787880	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	9.235000	0.95353	2.250000	0.74265	0.655000	0.94253	CAG		0.607	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		10	34	1	0	9.70103e-10	1	1.13767e-09	10	34				
ABCA13	154664	broad.mit.edu	37	7	48311571	48311571	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:48311571A>G	ENST00000435803.1	+	17	2332	c.2308A>G	c.(2308-2310)Ata>Gta	p.I770V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	770					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATTCTGAATATAAGTTCTCT	0.383																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2308-2310)Ata>Gta		ATP-binding cassette, sub-family A (ABC1), member 13							50.0	47.0	48.0					7																	48311571		1818	4069	5887	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311571A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2308A>G	7.37:g.48311571A>G	ENSP00000411096:p.Ile770Val						p.I770V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2332	+			770					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2308A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.208182	0.00292	.	.	ENSG00000179869	ENST00000435803	D	0.84944	-1.92	5.81	-2.27	0.06846	.	1.627470	0.03639	N	0.239201	T	0.74943	0.3783	L	0.29908	0.895	0.09310	N	1	B	0.20164	0.042	B	0.14023	0.01	T	0.57435	-0.7812	10	0.46703	T	0.11	.	3.9041	0.09174	0.5368:0.0:0.222:0.2412	.	770	Q86UQ4	ABCAD_HUMAN	V	770	ENSP00000411096:I770V	ENSP00000411096:I770V	I	+	1	0	ABCA13	48282117	0.028000	0.19301	0.000000	0.03702	0.053000	0.15095	0.394000	0.20834	-0.633000	0.05545	-0.480000	0.04831	ATA		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	14	0	0	0	1	0	12	14				
FAT1	2195	broad.mit.edu	37	4	187540450	187540450	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:187540450C>G	ENST00000441802.2	-	10	7499	c.7290G>C	c.(7288-7290)ctG>ctC	p.L2430L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2430	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATTGCCAGACAGAATGGAAT	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7288-7290)ctG>ctC		FAT atypical cadherin 1							94.0	98.0	97.0					4																	187540450		2034	4185	6219	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540450C>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7290G>C	4.37:g.187540450C>G		HNSCC(5;0.00058)					p.L2430L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7499	-			2430			Cadherin 22.			Silent	SNP	ENST00000441802.2	37	c.7290G>C	CCDS47177.1																																																																																				0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		57	1	0	0	0	1	0	57	1				
TLN2	83660	broad.mit.edu	37	15	63031545	63031545	+	Splice_Site	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:63031545A>T	ENST00000561311.1	+	30	3917		c.e30-1		TLN2_ENST00000559908.1_Splice_Site|TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGTTCCCCACAGCTACCTCCA	0.542																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.e30-1		talin 2							73.0	64.0	67.0					15																	63031545		2203	4300	6503	SO:0001630	splice_region_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63031545A>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3688-1A>T	15.37:g.63031545A>T						TLN2_ENST00000306829.6_Splice_Site|TLN2_ENST00000559908.1_Splice_Site				Q9Y4G6	TLN2_HUMAN			30	3917	+								A6NLB8	Splice_Site	SNP	ENST00000561311.1	37		CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386478	0.42308	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5196	0.75854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLN2	60818837	1.000000	0.71417	0.916000	0.36221	0.203000	0.24098	9.287000	0.95975	2.132000	0.65825	0.477000	0.44152	.		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Intron	15	14	0	0	0	1	0	15	14				
CREBBP	1387	broad.mit.edu	37	16	3789628	3789628	+	Missense_Mutation	SNP	C	C	G	rs201983874		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:3789628C>G	ENST00000262367.5	-	25	5040	c.4231G>C	c.(4231-4233)Gga>Cga	p.G1411R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1411	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G1411R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACGTGCATTCCAAAAAAGCAG	0.488			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.G1411R(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4231-4233)Gga>Cga		CREB binding protein							91.0	83.0	85.0					16																	3789628		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789628C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4231G>C	16.37:g.3789628C>G	ENSP00000262367:p.Gly1411Arg					CREBBP_ENST00000382070.3_Missense_Mutation_p.G1373R	p.G1411R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	5040	-		Ovarian(90;0.0266)	1411			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4231G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.323305	0.81580	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.96651	-4.08;-4.08	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99490	1.0950	10	0.87932	D	0	-11.6915	19.4402	0.94817	0.0:1.0:0.0:0.0	.	1441;1411	Q4LE28;Q92793	.;CBP_HUMAN	R	1411;1441;1373	ENSP00000262367:G1411R;ENSP00000371502:G1373R	ENSP00000262367:G1411R	G	-	1	0	CREBBP	3729629	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.713000	0.84693	2.665000	0.90641	0.561000	0.74099	GGA		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		21	28	0	0	0	1	0	21	28				
KRT82	3888	broad.mit.edu	37	12	52799998	52799998	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:52799998C>G	ENST00000257974.2	-	1	141	c.64G>C	c.(64-66)Gct>Cct	p.A22P	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	22	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCATGACAGCCGAGTATGAG	0.637																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(64-66)Gct>Cct		keratin 82							36.0	32.0	33.0					12																	52799998		2202	4298	6500	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799998C>G	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.64G>C	12.37:g.52799998C>G	ENSP00000257974:p.Ala22Pro						p.A22P	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	141	-			22			Head.			Missense_Mutation	SNP	ENST00000257974.2	37	c.64G>C	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979418	0.74360	.	.	ENSG00000161850	ENST00000257974	D	0.84589	-1.87	5.16	5.16	0.70880	.	0.000000	0.51477	D	0.000092	D	0.92961	0.7760	M	0.86420	2.815	0.46981	D	0.999277	D	0.76494	0.999	D	0.68765	0.96	D	0.94016	0.7288	10	0.87932	D	0	.	16.8169	0.85736	0.0:1.0:0.0:0.0	.	22	Q9NSB4	KRT82_HUMAN	P	22	ENSP00000257974:A22P	ENSP00000257974:A22P	A	-	1	0	KRT82	51086265	0.992000	0.36948	0.126000	0.21872	0.554000	0.35429	3.771000	0.55318	2.571000	0.86741	0.655000	0.94253	GCT		0.637	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		8	9	0	0	0	1	0	8	9				
PIK3R6	146850	broad.mit.edu	37	17	8738640	8738640	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:8738640C>A	ENST00000311434.9	-	8	834	c.595G>T	c.(595-597)Gcg>Tcg	p.A199S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	199					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCCAGAGCCGCCTGCAGGGCG	0.672																																						ENST00000311434.9																			0											c.(595-597)Gcg>Tcg		phosphoinositide-3-kinase, regulatory subunit 6							15.0	18.0	17.0					17																	8738640		2015	4165	6180	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8738640C>A	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.595G>T	17.37:g.8738640C>A	ENSP00000475670:p.Ala199Ser					PIK3R6_ENST00000434064.2_5'UTR	p.A199S	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			8	834	-			199					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.595G>T																																																																																					0.672	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		9	10	1	0	0.000673444	1	0.000717969	9	10				
VPS52	6293	broad.mit.edu	37	6	33236285	33236285	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:33236285G>A	ENST00000445902.2	-	7	908	c.690C>T	c.(688-690)ctC>ctT	p.L230L	VPS52_ENST00000436044.2_Silent_p.L105L|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	230					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTGACCCGGAGCCGATCGA	0.582																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(688-690)ctC>ctT		vacuolar protein sorting 52 homolog (S. cerevisiae)							80.0	69.0	73.0					6																	33236285		1510	2708	4218	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236285G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.690C>T	6.37:g.33236285G>A						VPS52_ENST00000436044.2_Silent_p.L105L|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	p.L230L	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			7	908	-			230					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.690C>T	CCDS4770.2																																																																																				0.582	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		26	19	0	0	0	1	0	26	19				
KIAA1841	84542	broad.mit.edu	37	2	61304147	61304147	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:61304147A>G	ENST00000402291.1	+	6	765	c.524A>G	c.(523-525)tAc>tGc	p.Y175C	KIAA1841_ENST00000295031.5_Missense_Mutation_p.Y175C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Y175C|KIAA1841_ENST00000356719.2_Missense_Mutation_p.Y175C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	175										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAATGAAGTACTTTGCTGAA	0.383																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(523-525)tAc>tGc		KIAA1841							94.0	97.0	96.0					2																	61304147		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61304147A>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.524A>G	2.37:g.61304147A>G	ENSP00000385579:p.Tyr175Cys					KIAA1841_ENST00000356719.2_Missense_Mutation_p.Y175C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Y175C|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.Y175C	p.Y175C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	765	+			175					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.524A>G	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499553	0.85176	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69510	-0.5126	10	0.87932	D	0	-12.1598	16.013	0.80417	1.0:0.0:0.0:0.0	.	175;175;175	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	C	175	ENSP00000385579:Y175C;ENSP00000295031:Y175C;ENSP00000349154:Y175C;ENSP00000416795:Y175C	ENSP00000295031:Y175C	Y	+	2	0	KIAA1841	61157651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.183000	0.69458	0.528000	0.53228	TAC		0.383	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		46	39	0	0	0	1	0	46	39				
AFF4	27125	broad.mit.edu	37	5	132232045	132232045	+	Missense_Mutation	SNP	T	T	A	rs200579628		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:132232045T>A	ENST00000265343.5	-	11	2656	c.2277A>T	c.(2275-2277)aaA>aaT	p.K759N	AFF4_ENST00000378595.3_Missense_Mutation_p.K759N	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	759					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTTGGAAACTTTTTCTGAGG	0.428																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(2275-2277)aaA>aaT		AF4/FMR2 family, member 4							109.0	111.0	110.0					5																	132232045		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232045T>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2277A>T	5.37:g.132232045T>A	ENSP00000265343:p.Lys759Asn					AFF4_ENST00000378595.3_Missense_Mutation_p.K759N	p.K759N	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2656	-		all_cancers(142;0.145)|Breast(839;0.198)	759					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2277A>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308663	0.60305	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.68903	-0.36;-0.36	5.02	2.61	0.31194	.	0.100049	0.64402	D	0.000003	T	0.74831	0.3768	L	0.56396	1.775	0.50313	D	0.999862	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.995	T	0.71543	-0.4561	10	0.49607	T	0.09	-12.1721	8.5015	0.33161	0.0:0.2504:0.0:0.7496	.	759;759	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	N	759	ENSP00000265343:K759N;ENSP00000367858:K759N	ENSP00000265343:K759N	K	-	3	2	AFF4	132259944	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.263000	0.33004	0.335000	0.23614	0.528000	0.53228	AAA		0.428	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		50	52	0	0	0	1	0	50	52				
EMP1	2012	broad.mit.edu	37	12	13364518	13364518	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:13364518C>G	ENST00000256951.5	+	2	273	c.74C>G	c.(73-75)gCc>gGc	p.A25G	EMP1_ENST00000544053.1_Intron|EMP1_ENST00000537612.1_Missense_Mutation_p.A25G|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.A25G|EMP1_ENST00000431267.2_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	25					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AGCACCATTGCCAATGTGAGT	0.373																																						ENST00000256951.5																			0											c.(73-75)gCc>gGc		epithelial membrane protein 1							291.0	243.0	259.0					12																	13364518		2203	4300	6503	SO:0001583	missense	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13364518C>G	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.74C>G	12.37:g.13364518C>G	ENSP00000256951:p.Ala25Gly					EMP1_ENST00000396301.3_Missense_Mutation_p.A25G|EMP1_ENST00000537612.1_Missense_Mutation_p.A25G|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000542289.1_Intron	p.A25G	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	273	+		Prostate(47;0.194)	25					B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	ENST00000256951.5	37	c.74C>G	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232859	0.39498	.	.	ENSG00000134531	ENST00000256951;ENST00000538364;ENST00000396301;ENST00000537612	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	6.16	5.27	0.74061	.	0.292902	0.41938	N	0.000793	D	0.89908	0.6851	M	0.77616	2.38	0.42482	D	0.992867	B;B	0.29162	0.235;0.025	B;B	0.32465	0.146;0.046	D	0.87838	0.2649	10	0.34782	T	0.22	.	17.7706	0.88491	0.0:0.878:0.122:0.0	.	25;25	B4DRR1;P54849	.;EMP1_HUMAN	G	25	ENSP00000256951:A25G;ENSP00000441223:A25G;ENSP00000379595:A25G;ENSP00000445319:A25G	ENSP00000256951:A25G	A	+	2	0	EMP1	13255785	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.657000	0.37366	1.615000	0.50252	0.650000	0.86243	GCC		0.373	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		37	63	0	0	0	1	0	37	63				
C5AR2	27202	broad.mit.edu	37	19	47844817	47844817	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:47844817T>A	ENST00000595464.1	+	2	979	c.761T>A	c.(760-762)cTg>cAg	p.L254Q	C5AR2_ENST00000600626.1_Missense_Mutation_p.L254Q|C5AR2_ENST00000257267.2_Missense_Mutation_p.L254Q	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	254					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										CTGCTGGGGCTGGTGCTCACT	0.682																																						ENST00000595464.1																			0											c.(760-762)cTg>cAg		complement component 5a receptor 2							31.0	36.0	34.0					19																	47844817		2201	4293	6494	SO:0001583	missense	27202							g.chr19:47844817T>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.761T>A	19.37:g.47844817T>A	ENSP00000472620:p.Leu254Gln					C5AR2_ENST00000257267.2_Missense_Mutation_p.L254Q|C5AR2_ENST00000600626.1_Missense_Mutation_p.L254Q	p.L254Q	NM_001271749.1	NP_001258678.1					2	979	+								B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.761T>A	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243381	0.58995	.	.	ENSG00000134830	ENST00000257267	T	0.47528	0.84	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.144344	0.28510	U	0.015089	T	0.70325	0.3211	M	0.88181	2.935	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.63980	-0.6514	10	0.87932	D	0	.	11.1214	0.48293	0.0:0.0:0.0:1.0	.	254	Q9P296	C5ARL_HUMAN	Q	254	ENSP00000257267:L254Q	ENSP00000257267:L254Q	L	+	2	0	GPR77	52536657	0.758000	0.28405	0.248000	0.24265	0.147000	0.21601	3.823000	0.55715	1.790000	0.52503	0.260000	0.18958	CTG		0.682	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		35	37	0	0	0	1	0	35	37				
SERPINI2	5276	broad.mit.edu	37	3	167189401	167189401	+	Silent	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:167189401A>T	ENST00000476257.1	-	3	520	c.222T>A	c.(220-222)acT>acA	p.T74T	SERPINI2_ENST00000264677.4_Silent_p.T74T|SERPINI2_ENST00000471111.1_Silent_p.T74T|SERPINI2_ENST00000461846.1_Silent_p.T74T|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	74					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GTTGTTTTAAAGTTTGTCTTA	0.373																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(220-222)acT>acA		serpin peptidase inhibitor, clade I (pancpin), member 2							236.0	236.0	236.0					3																	167189401		2203	4300	6503	SO:0001819	synonymous_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189401A>T	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.222T>A	3.37:g.167189401A>T						SERPINI2_ENST00000264677.4_Silent_p.T74T|SERPINI2_ENST00000471111.1_Silent_p.T74T|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Silent_p.T74T	p.T74T			O75830	SPI2_HUMAN			3	520	-			74						Silent	SNP	ENST00000476257.1	37	c.222T>A	CCDS3200.1																																																																																				0.373	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		28	52	0	0	0	1	0	28	52				
CTNNAL1	8727	broad.mit.edu	37	9	111732709	111732709	+	Silent	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:111732709C>T	ENST00000325551.4	-	10	1499	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000374595.4_Silent_p.E471E	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	471					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GAAATGTCTCCTCTGCATGTA	0.408																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1411-1413)gaG>gaA		catenin (cadherin-associated protein), alpha-like 1							176.0	134.0	148.0					9																	111732709		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111732709C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1413G>A	9.37:g.111732709C>T						CTNNAL1_ENST00000325551.4_Silent_p.E471E|CTNNAL1_ENST00000325580.6_Intron	p.E471E			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	10	1492	-			471					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1413G>A	CCDS6775.1																																																																																				0.408	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		6	36	0	0	0	1	0	6	36				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	6	0	0	0	1	0	3	6				
CTSG	1511	broad.mit.edu	37	14	25043508	25043508	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.Y179Y(1)	kidney(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(535-537)taC>taT		cathepsin G							91.0	76.0	81.0					14																	25043508		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043508G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.537C>T	14.37:g.25043508G>A							p.Y179Y	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	573	-			179			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.537C>T	CCDS9631.1																																																																																				0.627	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		11	11	0	0	0	1	0	11	11				
TNRC18	84629	broad.mit.edu	37	7	5391581	5391581	+	Missense_Mutation	SNP	C	C	T	rs373307130		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:5391581C>T	ENST00000430969.1	-	17	5687	c.5339G>A	c.(5338-5340)aGg>aAg	p.R1780K	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1780K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1780							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCAGGCCCCTCTTGGTCAG	0.652																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(5338-5340)aGg>aAg		trinucleotide repeat containing 18							22.0	23.0	23.0					7																	5391581		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5391581C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5339G>A	7.37:g.5391581C>T	ENSP00000395538:p.Arg1780Lys					TNRC18_ENST00000430969.1_Missense_Mutation_p.R1780K	p.R1780K			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5687	-		Ovarian(82;0.142)	1780					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.5339G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	14.19	2.461857	0.43736	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.11821	2.74;2.74	5.03	5.03	0.67393	.	0.000000	0.37053	N	0.002269	T	0.14098	0.0341	L	0.58669	1.825	0.28407	N	0.918365	B;B	0.29188	0.093;0.236	B;B	0.20767	0.026;0.031	T	0.07404	-1.0774	10	0.28530	T	0.3	.	12.7622	0.57372	0.0:0.9207:0.0:0.0793	.	835;1780	A8MSW5;O15417	.;TNC18_HUMAN	K	1780;1780;835	ENSP00000382452:R1780K;ENSP00000395538:R1780K	ENSP00000382452:R1780K	R	-	2	0	TNRC18	5358107	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	1.852000	0.39348	2.348000	0.79779	0.561000	0.74099	AGG		0.652	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				21	17	0	0	0	1	0	21	17				
ADRBK2	157	broad.mit.edu	37	22	26083505	26083505	+	Splice_Site	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:26083505G>A	ENST00000324198.6	+	11	1020	c.828G>A	c.(826-828)ggG>ggA	p.G276G		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGATTCCAGGGGGCGATTTGC	0.403																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.e11-1		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						116.0	97.0	104.0					22																	26083505		2203	4300	6503	SO:0001630	splice_region_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083505G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.827-1G>A	22.37:g.26083505G>A							p.G276_splice	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			11	1020	+			276			Protein kinase.		Q9UGW9	Splice_Site	SNP	ENST00000324198.6	37	c.826_splice	CCDS13832.1																																																																																				0.403	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	Silent	8	114	0	0	0	1	0	8	114				
MTA1	9112	broad.mit.edu	37	14	105920531	105920531	+	Splice_Site	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:105920531A>G	ENST00000331320.7	+	7	648	c.434A>G	c.(433-435)gAt>gGt	p.D145G	MTA1_ENST00000405646.1_Splice_Site_p.D128G|MTA1_ENST00000406191.1_Splice_Site_p.D145G	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	145	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTTTTCCAGGATTTCTTCTTC	0.567																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.e7-1		metastasis associated 1							61.0	58.0	59.0					14																	105920531		2202	4299	6501	SO:0001630	splice_region_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105920531A>G	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.433-1A>G	14.37:g.105920531A>G						MTA1_ENST00000406191.1_Splice_Site_p.D145_splice|MTA1_ENST00000405646.1_Splice_Site_p.D128_splice	p.D145_splice	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	7	648	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	145			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Splice_Site	SNP	ENST00000331320.7	37	c.432_splice	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394243	0.83011	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.58	4.58	0.56647	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94993	0.8136	10	0.87932	D	0	-19.0001	12.7829	0.57487	1.0:0.0:0.0:0.0	.	145	Q13330	MTA1_HUMAN	G	54;145;145;128;59	ENSP00000333633:D145G;ENSP00000385702:D145G;ENSP00000384180:D128G;ENSP00000448146:D59G	ENSP00000333633:D145G	D	+	2	0	MTA1	104991576	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.297000	0.78799	1.710000	0.51325	0.448000	0.29417	GAT		0.567	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		Missense_Mutation	9	16	0	0	0	1	0	9	16				
BRCA1	672	broad.mit.edu	37	17	41251830	41251830	+	Missense_Mutation	SNP	C	C	A	rs80357264		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:41251830C>A	ENST00000357654.3	-	7	627	c.509G>T	c.(508-510)cGg>cTg	p.R170L	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000351666.3_Missense_Mutation_p.R170L|BRCA1_ENST00000471181.2_Missense_Mutation_p.R170L|BRCA1_ENST00000468300.1_Missense_Mutation_p.R170L|BRCA1_ENST00000352993.3_Missense_Mutation_p.R170L|BRCA1_ENST00000491747.2_Missense_Mutation_p.R170L|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R123L|BRCA1_ENST00000346315.3_Missense_Mutation_p.R170L|BRCA1_ENST00000354071.3_Missense_Mutation_p.R170L|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	170			R -> W (in BC; unknown pathological significance; functionally neutral in vitro).		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R170Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGTTGTATCCGCTGCTTTGT	0.383			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		1	Substitution - Missense(1)	p.R170Q(1)	large_intestine(1)	NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(508-510)cGg>cTg	Homologous recombination	breast cancer 1, early onset							177.0	169.0	171.0					17																	41251830		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41251830C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.509G>T	17.37:g.41251830C>A	ENSP00000350283:p.Arg170Leu	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000346315.3_Missense_Mutation_p.R170L|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R123L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R170L|BRCA1_ENST00000354071.3_Missense_Mutation_p.R170L|BRCA1_ENST00000352993.3_Missense_Mutation_p.R170L|BRCA1_ENST00000351666.3_Missense_Mutation_p.R170L|BRCA1_ENST00000471181.2_Missense_Mutation_p.R170L|BRCA1_ENST00000468300.1_Missense_Mutation_p.R170L	p.R170L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	627	-		Breast(137;0.000717)	170					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.509G>T	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.45|11.45	1.643759|1.643759	0.29246|0.29246	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97256	.|-2.32;-2.41;-2.42;-2.4;-2.46;-2.29;-2.73;-2.32;-2.43;-2.13;-1.88;-2.36;-1.74;-2.87;-4.31;-2.56;-2.16	5.11|5.11	2.91|2.91	0.33838|0.33838	.|.	.|0.527792	.|0.17532	.|N	.|0.170826	.|D	.|0.91164	.|0.7217	N|N	0.08118|0.08118	0|0	0.21325|0.21325	N|N	0.999725|0.999725	.|B;B;B;B;B;B;B;B;B;B;B	.|0.18461	.|0.016;0.011;0.016;0.001;0.005;0.001;0.028;0.028;0.001;0.004;0.002	.|B;B;B;B;B;B;B;B;B;B;B	.|0.19391	.|0.011;0.015;0.011;0.005;0.005;0.005;0.025;0.011;0.005;0.007;0.011	.|D	.|0.84819	.|0.0795	.|10	.|0.87932	.|D	.|0	.|.	9.3002|9.3002	0.37840|0.37840	0.0:0.0933:0.0:0.9067|0.0:0.0933:0.0:0.9067	.|.	.|169;123;169;170;170;170;170;170;170;170;170	.|E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.|.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.	X|L	77|170;170;170;170;170;170;170;123;170;123;169;169;85;123;86;170;144;170;169	.|ENSP00000350283:R170L;ENSP00000326002:R170L;ENSP00000312236:R170L;ENSP00000246907:R170L;ENSP00000338007:R170L;ENSP00000417148:R170L;ENSP00000377294:R123L;ENSP00000418960:R170L;ENSP00000418775:R123L;ENSP00000420412:R169L;ENSP00000419481:R85L;ENSP00000418819:R123L;ENSP00000418212:R86L;ENSP00000419274:R170L;ENSP00000419988:R144L;ENSP00000419103:R170L;ENSP00000417554:R169L	.|ENSP00000246907:R170L	G|R	-|-	1|2	0|0	BRCA1|BRCA1	38505356|38505356	0.020000|0.020000	0.18652|0.18652	0.388000|0.388000	0.26195|0.26195	0.683000|0.683000	0.39861|0.39861	0.792000|0.792000	0.26929|0.26929	0.516000|0.516000	0.28340|0.28340	-1.199000|-1.199000	0.01669|0.01669	GGA|CGG		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		81	106	1	0	1.48072e-28	1	1.89121e-28	81	106				
ADAMTS12	81792	broad.mit.edu	37	5	33684007	33684007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:33684007C>T	ENST00000504830.1	-	4	1123	c.788G>A	c.(787-789)gGg>gAg	p.G263E	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTCTCACTCCCATGGTATTC	0.512										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(787-789)gGg>gAg		ADAM metallopeptidase with thrombospondin type 1 motif, 12							138.0	128.0	132.0					5																	33684007		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684007C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.788G>A	5.37:g.33684007C>T	ENSP00000422554:p.Gly263Glu	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263E	p.G263E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			4	1123	-			263			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.788G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001503	0.74818	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.88896	-2.44;-2.44	4.99	4.99	0.66335	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.974;1.0	D	0.94428	0.7647	10	0.87932	D	0	.	18.8321	0.92144	0.0:1.0:0.0:0.0	.	263;263	P58397-3;P58397	.;ATS12_HUMAN	E	263	ENSP00000422554:G263E;ENSP00000344847:G263E	ENSP00000344847:G263E	G	-	2	0	ADAMTS12	33719764	1.000000	0.71417	0.996000	0.52242	0.249000	0.25844	7.538000	0.82048	2.754000	0.94517	0.637000	0.83480	GGG		0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		45	70	0	0	0	1	0	45	70				
SDK1	221935	broad.mit.edu	37	7	3678686	3678686	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:3678686T>C	ENST00000404826.2	+	3	648	c.509T>C	c.(508-510)gTg>gCg	p.V170A	SDK1_ENST00000389531.3_Missense_Mutation_p.V170A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	170	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACCGCTGCGTGGTGCGAAAC	0.408																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(508-510)gTg>gCg		sidekick cell adhesion molecule 1							79.0	69.0	72.0					7																	3678686		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3678686T>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.509T>C	7.37:g.3678686T>C	ENSP00000385899:p.Val170Ala					SDK1_ENST00000389531.3_Missense_Mutation_p.V170A	p.V170A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	3	648	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	170			Ig-like C2-type 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.509T>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.874152	0.51695	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.12465	2.68;2.68	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.203960	0.24628	N	0.036912	T	0.12732	0.0309	L	0.38692	1.165	0.32969	D	0.522074	B	0.24426	0.103	B	0.22152	0.038	T	0.06607	-1.0817	10	0.49607	T	0.09	.	13.0205	0.58784	0.0:0.0:0.0:1.0	.	170	Q7Z5N4	SDK1_HUMAN	A	170	ENSP00000385899:V170A;ENSP00000374182:V170A	ENSP00000374182:V170A	V	+	2	0	SDK1	3645212	0.984000	0.35163	0.995000	0.50966	0.996000	0.88848	4.237000	0.58681	1.941000	0.56285	0.460000	0.39030	GTG		0.408	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		3	9	0	0	0	1	0	3	9				
CLCN1	1180	broad.mit.edu	37	7	143039052	143039052	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:143039052A>G	ENST00000343257.2	+	15	1700	c.1613A>G	c.(1612-1614)cAc>cGc	p.H538R		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	538					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCGTTTCCCACACAGTCTCC	0.527																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1612-1614)cAc>cGc		chloride channel, voltage-sensitive 1							170.0	123.0	139.0					7																	143039052		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143039052A>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1613A>G	7.37:g.143039052A>G	ENSP00000339867:p.His538Arg						p.H538R	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			15	1700	+	Melanoma(164;0.205)		538					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1613A>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451022	0.84209	.	.	ENSG00000188037	ENST00000343257	D	0.92699	-3.09	5.91	4.75	0.60458	Chloride channel, core (2);	0.087677	0.85682	D	0.000000	D	0.93265	0.7854	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92948	0.6378	10	0.54805	T	0.06	.	12.5139	0.56021	0.8749:0.0:0.0:0.1251	.	538	P35523	CLCN1_HUMAN	R	538	ENSP00000339867:H538R	ENSP00000339867:H538R	H	+	2	0	CLCN1	142749174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.331000	0.96430	1.054000	0.40438	0.523000	0.50628	CAC		0.527	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		15	40	0	0	0	1	0	15	40				
DHX35	60625	broad.mit.edu	37	20	37653954	37653954	+	Silent	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr20:37653954T>C	ENST00000252011.3	+	18	1786	c.1753T>C	c.(1753-1755)Ttg>Ctg	p.L585L	DHX35_ENST00000373323.4_Silent_p.L554L|DHX35_ENST00000373325.2_Silent_p.L585L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	585					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGAGAACAATTGAAAAAGCT	0.448																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1753-1755)Ttg>Ctg		DEAH (Asp-Glu-Ala-His) box polypeptide 35							195.0	202.0	200.0					20																	37653954		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37653954T>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1753T>C	20.37:g.37653954T>C						DHX35_ENST00000373323.4_Silent_p.L554L|DHX35_ENST00000373325.2_Silent_p.L585L	p.L585L	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			18	1786	+		Myeloproliferative disorder(115;0.00878)	585					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1753T>C	CCDS13310.1																																																																																				0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		78	68	0	0	0	1	0	78	68				
SLFN11	91607	broad.mit.edu	37	17	33680977	33680977	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:33680977A>C	ENST00000394566.1	-	6	1572	c.1300T>G	c.(1300-1302)Ttc>Gtc	p.F434V	SLFN11_ENST00000308377.4_Missense_Mutation_p.F434V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	434					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCCGAAAGAAAGGTTGCATT	0.468																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(1300-1302)Ttc>Gtc		schlafen family member 11							89.0	90.0	89.0					17																	33680977		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33680977A>C	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1300T>G	17.37:g.33680977A>C	ENSP00000378067:p.Phe434Val					SLFN11_ENST00000308377.4_Missense_Mutation_p.F434V	p.F434V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1572	-		Ovarian(249;0.17)	434					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.1300T>G	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	A	0.272	-0.992444	0.02162	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.01854	4.6;4.6	3.69	1.27	0.21489	.	0.143332	0.32703	N	0.005752	T	0.01976	0.0062	L	0.43152	1.355	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.46345	-0.9198	10	0.26408	T	0.33	.	4.1601	0.10280	0.5783:0.2148:0.0:0.2069	.	434	Q7Z7L1	SLN11_HUMAN	V	434	ENSP00000312402:F434V;ENSP00000378067:F434V	ENSP00000312402:F434V	F	-	1	0	SLFN11	30705090	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.016000	0.12613	0.100000	0.17581	-0.341000	0.08007	TTC		0.468	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		42	49	0	0	0	1	0	42	49				
CDH23	64072	broad.mit.edu	37	10	73550053	73550053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:73550053C>A	ENST00000224721.6	+	45	5952	c.5947C>A	c.(5947-5949)Ctc>Atc	p.L1983I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1978	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGCACCCCTCTCACGGTGCT	0.652																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5947-5949)Ctc>Atc		cadherin-related 23							44.0	49.0	47.0					10																	73550053		2064	4185	6249	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73550053C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5947C>A	10.37:g.73550053C>A	ENSP00000224721:p.Leu1983Ile						p.L1983I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			45	5952	+			1978			Cadherin 19.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5947C>A		.	.	.	.	.	.	.	.	.	.	c	11.01	1.511811	0.27036	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.06	2.81	0.32909	Cadherin (2);Cadherin-like (1);	0.244423	0.33572	N	0.004771	T	0.27832	0.0685	N	0.04162	-0.26	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.06734	-1.0810	9	0.46703	T	0.11	.	9.2304	0.37432	0.3762:0.5145:0.1093:0.0	.	1978	Q9H251	CAD23_HUMAN	I	1983;1978;1981	.	ENSP00000224721:L1983I	L	+	1	0	CDH23	73220059	0.711000	0.27906	0.995000	0.50966	0.930000	0.56654	1.191000	0.32138	1.031000	0.39867	0.556000	0.70494	CTC		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	16	1	0	9.16793e-09	1	1.0466e-08	15	16				
LRP6	4040	broad.mit.edu	37	12	12397495	12397495	+	Silent	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:12397495C>T	ENST00000261349.4	-	2	226	c.150G>A	c.(148-150)ttG>ttA	p.L50L	LRP6_ENST00000543091.1_Silent_p.L50L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	50	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGCATCCTCCAAGCCTCCAA	0.448																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(148-150)ttG>ttA		low density lipoprotein receptor-related protein 6							114.0	101.0	105.0					12																	12397495		2203	4300	6503	SO:0001819	synonymous_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12397495C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.150G>A	12.37:g.12397495C>T						LRP6_ENST00000543091.1_Silent_p.L50L	p.L50L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			2	226	-		Prostate(47;0.0865)	50			Beta-propeller 1.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.150G>A	CCDS8647.1																																																																																				0.448	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			30	26	0	0	0	1	0	30	26				
C5orf24	134553	broad.mit.edu	37	5	134190664	134190664	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:134190664C>T	ENST00000394976.3	+	2	302	c.74C>T	c.(73-75)gCc>gTc	p.A25V	C5orf24_ENST00000338051.4_Missense_Mutation_p.A25V|C5orf24_ENST00000504727.1_Missense_Mutation_p.A25V|C5orf24_ENST00000435259.2_Missense_Mutation_p.A25V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	25										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGAAGATGCCATGAGAGCT	0.448																																						ENST00000394976.3																			0				breast(2)|endometrium(2)|lung(2)	6						c.(73-75)gCc>gTc		chromosome 5 open reading frame 24							129.0	136.0	134.0					5																	134190664		2203	4300	6503	SO:0001583	missense	134553							g.chr5:134190664C>T	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.74C>T	5.37:g.134190664C>T	ENSP00000378427:p.Ala25Val					C5orf24_ENST00000435259.2_Missense_Mutation_p.A25V|C5orf24_ENST00000338051.4_Missense_Mutation_p.A25V|C5orf24_ENST00000504727.1_Missense_Mutation_p.A25V	p.A25V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	302	+			25					D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	ENST00000394976.3	37	c.74C>T	CCDS4179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.46|12.46	1.945615|1.945615	0.34377|0.34377	.|.	.|.	ENSG00000181904|ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000504727;ENST00000435259|ENST00000507390	.|.	.|.	.|.	5.78|5.78	2.8|2.8	0.32819|0.32819	.|.	0.445312|.	0.26907|.	N|.	0.021896|.	T|T	0.19366|0.19366	0.0465|0.0465	N|N	0.08118|0.08118	0|0	0.26812|0.26812	N|N	0.968974|0.968974	B;B|.	0.13594|.	0.002;0.008|.	B;B|.	0.14023|.	0.006;0.01|.	T|T	0.19095|0.19095	-1.0316|-1.0316	9|5	0.33141|.	T|.	0.24|.	-5.9631|-5.9631	9.4438|9.4438	0.38684|0.38684	0.1962:0.5938:0.21:0.0|0.1962:0.5938:0.21:0.0	.|.	25;25|.	Q7Z6I8-2;Q7Z6I8|.	.;CE024_HUMAN|.	V|S	25|9	.|.	ENSP00000337044:A25V|.	A|P	+|+	2|1	0|0	C5orf24|C5orf24	134218563|134218563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.809000|1.809000	0.38922|0.38922	1.418000|1.418000	0.47098|0.47098	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.448	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1	NM_152409		4	140	0	0	0	1	0	4	140				
NOL4L	140688	broad.mit.edu	37	20	31040136	31040136	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr20:31040136G>A	ENST00000359676.5	-	7	1135	c.993C>T	c.(991-993)taC>taT	p.Y331Y	C20orf112_ENST00000475781.1_5'Flank|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		331						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CGCCGTTGGCGTACACAGGGT	0.627																																						ENST00000359676.5																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						c.(991-993)taC>taT		chromosome 20 open reading frame 112							150.0	127.0	135.0					20																	31040136		2203	4300	6503	SO:0001819	synonymous_variant	140688							g.chr20:31040136G>A																												ENST00000359676.5:c.993C>T	20.37:g.31040136G>A						RP5-1184F4.5_ENST00000442179.1_RNA	p.Y331Y	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN			7	1135	-			331					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	ENST00000359676.5	37	c.993C>T	CCDS13202.1																																																																																				0.627	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			34	35	0	0	0	1	0	34	35				
ASAP2	8853	broad.mit.edu	37	2	9484929	9484929	+	Splice_Site	SNP	C	C	T	rs143591778		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:9484929C>T	ENST00000281419.3	+	11	1363	c.1023C>T	c.(1021-1023)acC>acT	p.T341T	ASAP2_ENST00000315273.4_Splice_Site_p.T341T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	341	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCATGGTACCGTAAGTATTC	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17377	0.0		0.0	False		,,,				2504	0.0					ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.e11+1		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2		C	,	0,4406		0,0,2203	127.0	115.0	119.0		1023,1023	-5.0	0.9	2	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ASAP2	NM_001135191.1,NM_003887.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	341/962,341/1007	9484929	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484929C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1023+1C>T	2.37:g.9484929C>T						ASAP2_ENST00000315273.4_Splice_Site_p.T341_splice	p.T341_splice	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			11	1363	+			341			PH.		D6W4Y8	Splice_Site	SNP	ENST00000281419.3	37	c.1023_splice	CCDS1661.1																																																																																				0.423	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	Silent	23	28	0	0	0	1	0	23	28				
DPF3	8110	broad.mit.edu	37	14	73220023	73220023	+	Silent	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:73220023G>T	ENST00000556509.1	-	3	249	c.250C>A	c.(250-252)Cga>Aga	p.R84R	DPF3_ENST00000541685.1_Silent_p.R84R|DPF3_ENST00000546183.1_Silent_p.R94R	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	84					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGTGCAATCGTCTCTTCTTG	0.557																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(250-252)Cga>Aga		D4, zinc and double PHD fingers, family 3							56.0	57.0	57.0					14																	73220023		1893	4112	6005	SO:0001819	synonymous_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73220023G>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.250C>A	14.37:g.73220023G>T						DPF3_ENST00000546183.1_Silent_p.R94R|DPF3_ENST00000556509.1_Silent_p.R84R	p.R84R	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	3	262	-			84					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.250C>A																																																																																					0.557	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			6	19	1	0	0.00116845	1	0.00123549	6	19				
TRBV11-1	28582	broad.mit.edu	37	7	142224222	142224222	+	RNA	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:142224222C>A	ENST00000390367.3	-	0	62									T cell receptor beta variable 11-1																		GACACACCTGCCCCCAGGAGA	0.498																																						ENST00000390367.3																			0																				53.0	54.0	54.0					7																	142224222		1949	4153	6102			0							g.chr7:142224222C>A	M33233		7q34	2012-02-07			ENSG00000211720	ENSG00000211720		"""T cell receptors / TRB locus"""	12180	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV111, TCRBV11S1, TCRBV21S1			OTTHUMG00000158505		7.37:g.142224222C>A														0	62	-									RNA	SNP	ENST00000390367.3	37																																																																																						0.498	TRBV11-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351211.1	NG_001333		12	14	1	0	9.05144e-12	1	1.10154e-11	12	14				
PIK3C2B	5287	broad.mit.edu	37	1	204415197	204415197	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:204415197C>G	ENST00000367187.3	-	17	3121	c.2565G>C	c.(2563-2565)ctG>ctC	p.L855L	PIK3C2B_ENST00000424712.2_Intron	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	855	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGCGAGCACCAGGGGGAGCG	0.617											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2563-2565)ctG>ctC		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							62.0	63.0	63.0					1																	204415197		2203	4300	6503	SO:0001819	synonymous_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204415197C>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2565G>C	1.37:g.204415197C>G			OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2144	PIK3C2B_ENST00000424712.2_Intron	p.L855L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		17	3121	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		855					O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.2565G>C	CCDS1446.1																																																																																				0.617	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		73	36	0	0	0	1	0	73	36				
PCDHGA2	56113	broad.mit.edu	37	5	140720733	140720733	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:140720733T>A	ENST00000394576.2	+	1	2195	c.2195T>A	c.(2194-2196)tTg>tAg	p.L732*	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCAGCTTGACAGGCATG	0.642																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2194-2196)tTg>tAg									80.0	83.0	82.0					5																	140720733		2203	4300	6503	SO:0001587	stop_gained	0							g.chr5:140720733T>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2195T>A	5.37:g.140720733T>A	ENSP00000378077:p.Leu732*					PCDHGA1_ENST00000517417.1_Intron	p.L732*	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2195	+								Q52LL6|Q9Y5D5	Nonsense_Mutation	SNP	ENST00000394576.2	37	c.2195T>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.215122	0.79352	.	.	ENSG00000081853	ENST00000394576	.	.	.	4.89	2.43	0.29744	.	0.889113	0.08936	U	0.872377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3446	0.26656	0.0:0.0771:0.145:0.7779	.	.	.	.	X	732	.	ENSP00000378077:L732X	L	+	2	0	PCDHGA2	140700917	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.856000	0.27818	0.300000	0.22699	0.402000	0.26972	TTG		0.642	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		65	55	0	0	0	1	0	65	55				
DLG5	9231	broad.mit.edu	37	10	79580866	79580866	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:79580866C>A	ENST00000372391.2	-	15	3381	c.3376G>T	c.(3376-3378)Gta>Tta	p.V1126L	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1126					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAATCACTACTGGAGCAAGC	0.602																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3376-3378)Gta>Tta		discs, large homolog 5 (Drosophila)							45.0	48.0	47.0					10																	79580866		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79580866C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3376G>T	10.37:g.79580866C>A	ENSP00000361467:p.Val1126Leu					DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	p.V1126L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3381	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1126					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3376G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295320	0.40594	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04194	3.68	5.69	5.69	0.88448	.	0.000000	0.33496	N	0.004858	T	0.05318	0.0141	L	0.34521	1.04	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.17979	0.02;0.009	T	0.46721	-0.9171	10	0.21014	T	0.42	.	15.009	0.71536	0.0:0.9298:0.0:0.0702	.	1016;1126	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	L	1126;675	ENSP00000361467:V1126L	ENSP00000361467:V1126L	V	-	1	0	DLG5	79250872	0.462000	0.25791	0.299000	0.25016	0.988000	0.76386	1.737000	0.38197	2.679000	0.91253	0.655000	0.94253	GTA		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			18	26	1	0	1.67942e-08	1	1.90039e-08	18	26				
ADAM10	102	broad.mit.edu	37	15	58957369	58957369	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:58957369C>T	ENST00000260408.3	-	5	955	c.512G>A	c.(511-513)gGg>gAg	p.G171E	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	171					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGCACAGCCCCCCTGAGGACC	0.363																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(511-513)gGg>gAg		ADAM metallopeptidase domain 10							132.0	128.0	129.0					15																	58957369		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58957369C>T	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.512G>A	15.37:g.58957369C>T	ENSP00000260408:p.Gly171Glu					ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron	p.G171E	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	5	955	-			171					B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.512G>A	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018826	0.93404	.	.	ENSG00000137845	ENST00000260408;ENST00000439637	T;D	0.88124	1.82;-2.34	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.86431	0.5931	M	0.76574	2.34	0.80722	D	1	B;B	0.33345	0.138;0.409	B;B	0.33690	0.131;0.168	T	0.83184	-0.0087	10	0.12766	T	0.61	-1.6012	17.7545	0.88445	0.0:1.0:0.0:0.0	.	171;171	A0AV88;O14672	.;ADA10_HUMAN	E	171;118	ENSP00000260408:G171E;ENSP00000391930:G118E	ENSP00000260408:G171E	G	-	2	0	ADAM10	56744661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.543000	0.73874	2.798000	0.96311	0.650000	0.86243	GGG		0.363	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		61	69	0	0	0	1	0	61	69				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	172	0	0	0	1	0	5	172				
PPOX	5498	broad.mit.edu	37	1	161138906	161138906	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:161138906G>T	ENST00000367999.4	+	7	1006	c.740G>T	c.(739-741)aGg>aTg	p.R247M	B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.R247M	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	247					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGACTAGTAGGGGGGTCAGT	0.607																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(739-741)aGg>aTg		protoporphyrinogen oxidase							60.0	63.0	62.0					1																	161138906		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138906G>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.740G>T	1.37:g.161138906G>T	ENSP00000356978:p.Arg247Met					PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R247M|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron	p.R247M	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	1006	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		247					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.740G>T	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.86|11.86	1.763565|1.763565	0.31228|0.31228	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523|ENST00000352210;ENST00000367999;ENST00000435935	.|D;D	.|0.97791	.|-4.54;-4.54	5.57|5.57	1.01|1.01	0.19927|0.19927	.|Amine oxidase (1);	.|0.280533	.|0.38605	.|N	.|0.001622	D|D	0.93022|0.93022	0.7779|0.7779	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.27765	.|0.188;0.038;0.003	.|B;B;B	.|0.32583	.|0.148;0.015;0.009	D|D	0.89173|0.89173	0.3538|0.3538	5|10	.|0.48119	.|T	.|0.1	-16.5975|-16.5975	10.4366|10.4366	0.44439|0.44439	0.3393:0.0:0.6607:0.0|0.3393:0.0:0.6607:0.0	.|.	.|214;85;247	.|B4DY76;B3KT30;P50336	.|.;.;PPOX_HUMAN	W|M	60|247;247;214	.|ENSP00000343943:R247M;ENSP00000356978:R247M	.|ENSP00000343943:R247M	G|R	+|+	1|2	0|0	PPOX|PPOX	159405530|159405530	0.005000|0.005000	0.15991|0.15991	0.102000|0.102000	0.21198|0.21198	0.945000|0.945000	0.59286|0.59286	1.288000|1.288000	0.33296|0.33296	0.286000|0.286000	0.22352|0.22352	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.607	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		28	32	1	0	1.06801e-11	1	1.2876e-11	28	32				
SKOR1	390598	broad.mit.edu	37	15	68123211	68123211	+	Silent	SNP	C	C	A	rs377094576		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:68123211C>A	ENST00000380035.2	+	5	2629	c.2571C>A	c.(2569-2571)atC>atA	p.I857I	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Silent_p.I818I|SKOR1_ENST00000341418.5_Silent_p.I760I|SKOR1_ENST00000389002.1_Silent_p.I813I|SKOR1_ENST00000554054.1_Silent_p.I829I			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	857					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AGAAAGATATCGAGAACCTGG	0.507																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(2569-2571)atC>atA		SKI family transcriptional corepressor 1		C		0,4400		0,0,2200	208.0	206.0	206.0		2439	-4.1	0.7	15		206	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	SKOR1	NM_001031807.1		0,1,6497	AA,AC,CC		0.0116,0.0,0.0077		813/922	68123211	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68123211C>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2571C>A	15.37:g.68123211C>A						SKOR1_ENST00000389002.1_Silent_p.I813I|SKOR1_ENST00000554054.1_Silent_p.I829I|SKOR1_ENST00000554240.1_Silent_p.I818I|SKOR1_ENST00000341418.5_Silent_p.I760I	p.I857I			P84550	SKOR1_HUMAN			5	2629	+			857					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.2571C>A																																																																																					0.507	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		69	59	1	0	2.84776e-26	1	3.56661e-26	69	59				
PCDHB3	56132	broad.mit.edu	37	5	140482548	140482548	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:140482548C>A	ENST00000231130.2	+	1	2315	c.2315C>A	c.(2314-2316)cCc>cAc	p.P772H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	772					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATTATCCCCAACTTCGTT	0.517																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2314-2316)cCc>cAc									74.0	76.0	75.0					5																	140482548		2201	4296	6497	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482548C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2315C>A	5.37:g.140482548C>A	ENSP00000231130:p.Pro772His						p.P772H	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2315	+			772					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2315C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227036	0.58668	.	.	ENSG00000113205	ENST00000231130	T	0.18016	2.24	4.17	4.17	0.49024	.	.	.	.	.	T	0.48995	0.1531	M	0.90542	3.125	0.20703	N	0.999863	D	0.76494	0.999	D	0.70716	0.97	T	0.47045	-0.9147	9	0.87932	D	0	.	14.6259	0.68621	0.0:1.0:0.0:0.0	.	772	Q9Y5E6	PCDB3_HUMAN	H	772	ENSP00000231130:P772H	ENSP00000231130:P772H	P	+	2	0	PCDHB3	140462732	0.110000	0.22057	0.003000	0.11579	0.008000	0.06430	4.010000	0.57117	2.021000	0.59480	0.491000	0.48974	CCC		0.517	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		13	55	1	0	7.33628e-21	1	9.09981e-21	13	55				
EMC7	56851	broad.mit.edu	37	15	34380269	34380269	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:34380269A>T	ENST00000256545.4	-	4	669	c.561T>A	c.(559-561)gaT>gaA	p.D187E		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	187						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TCATGTCAGGATCACTTGTGT	0.388																																						ENST00000256545.4																			0											c.(559-561)gaT>gaA		ER membrane protein complex subunit 7							82.0	77.0	79.0					15																	34380269		2201	4298	6499	SO:0001583	missense	56851							g.chr15:34380269A>T	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.561T>A	15.37:g.34380269A>T	ENSP00000256545:p.Asp187Glu						p.D187E	NM_020154.2	NP_064539.1					4	669	-								B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	c.561T>A	CCDS10032.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	20.3|20.3|20.3	3.968663|3.968663|3.968663	0.74131|0.74131|0.74131	.|.|.	.|.|.	ENSG00000134153|ENSG00000134153|ENSG00000134153	ENST00000256545|ENST00000528949|ENST00000527822	.|.|.	.|.|.	.|.|.	5.54|5.54|5.54	1.93|1.93|1.93	0.25924|0.25924|0.25924	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.70684|0.70684|0.70684	0.3252|0.3252|0.3252	M|M|M	0.81682|0.81682|0.81682	2.555|2.555|2.555	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.76494|.|.	0.999|.|.	D|.|.	0.76071|.|.	0.987|.|.	T|T|T	0.67233|0.67233|0.67233	-0.5722|-0.5722|-0.5722	9|5|5	0.59425|.|.	D|.|.	0.04|.|.	-15.6203|-15.6203|-15.6203	8.7488|8.7488|8.7488	0.34602|0.34602|0.34602	0.7228:0.0:0.2772:0.0|0.7228:0.0:0.2772:0.0|0.7228:0.0:0.2772:0.0	.|.|.	187|.|.	Q9NPA0|.|.	CO024_HUMAN|.|.	E|N|T	187|123|137	.|.|.	ENSP00000256545:D187E|.|.	D|I|S	-|-|-	3|2|1	2|0|0	C15orf24|C15orf24|C15orf24	32167561|32167561|32167561	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	0.850000|0.850000|0.850000	0.27737|0.27737|0.27737	0.161000|0.161000|0.161000	0.19458|0.19458|0.19458	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAT|ATC|TCC		0.388	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	14	0	0	0	1	0	9	14				
RFTN1	23180	broad.mit.edu	37	3	16450976	16450976	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:16450976T>A	ENST00000334133.4	-	4	619	c.347A>T	c.(346-348)gAt>gTt	p.D116V	RFTN1_ENST00000432519.1_Missense_Mutation_p.D80V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	116					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTGAAGATCAGTTTTCTG	0.428																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(346-348)gAt>gTt		raftlin, lipid raft linker 1							121.0	115.0	117.0					3																	16450976		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16450976T>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.347A>T	3.37:g.16450976T>A	ENSP00000334153:p.Asp116Val					RFTN1_ENST00000432519.1_Missense_Mutation_p.D80V	p.D116V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			4	619	-			116					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.347A>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.609176	0.46527	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.53	5.53	0.82687	.	0.504726	0.23416	N	0.048420	T	0.46737	0.1408	L	0.54323	1.7	0.45899	D	0.998743	D;D	0.67145	0.996;0.963	P;P	0.62298	0.9;0.79	T	0.43845	-0.9366	10	0.62326	D	0.03	-19.1749	12.0472	0.53487	0.0:0.0:0.0:1.0	.	80;116	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	80;116;116;116;116	ENSP00000403926:D80V;ENSP00000334153:D116V;ENSP00000403997:D116V;ENSP00000409427:D116V;ENSP00000388718:D116V	ENSP00000334153:D116V	D	-	2	0	RFTN1	16425980	0.830000	0.29337	0.086000	0.20670	0.187000	0.23431	2.731000	0.47343	2.100000	0.63781	0.533000	0.62120	GAT		0.428	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		30	24	0	0	0	1	0	30	24				
PGAP1	80055	broad.mit.edu	37	2	197784834	197784834	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:197784834G>A	ENST00000354764.4	-	2	302	c.188C>T	c.(187-189)gCa>gTa	p.A63V	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.A21V|PGAP1_ENST00000409475.1_Missense_Mutation_p.A63V	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	63					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAACTCATATGCGGGATAGCG	0.363																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(187-189)gCa>gTa		post-GPI attachment to proteins 1							136.0	140.0	139.0					2																	197784834		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197784834G>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.188C>T	2.37:g.197784834G>A	ENSP00000346809:p.Ala63Val					PGAP1_ENST00000409475.1_Missense_Mutation_p.A63V|PGAP1_ENST00000409188.1_Missense_Mutation_p.A21V|PGAP1_ENST00000485830.1_5'UTR	p.A63V	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			2	302	-			63					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.188C>T	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246974	0.59103	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	5.25	5.25	0.73442	.	0.309128	0.35179	N	0.003399	T	0.35770	0.0943	L	0.27053	0.805	0.42803	D	0.993938	B;P	0.39282	0.161;0.666	B;B	0.30179	0.049;0.112	T	0.35325	-0.9793	9	0.54805	T	0.06	-9.9863	12.6912	0.56976	0.0752:0.0:0.9248:0.0	.	63;63	Q75T13-3;Q75T13	.;PGAP1_HUMAN	V	63;63;21	.	ENSP00000346809:A63V	A	-	2	0	PGAP1	197493079	0.996000	0.38824	0.990000	0.47175	0.942000	0.58702	4.983000	0.63832	2.885000	0.99019	0.655000	0.94253	GCA		0.363	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		53	65	0	0	0	1	0	53	65				
HDLBP	3069	broad.mit.edu	37	2	242186209	242186209	+	Silent	SNP	G	G	A	rs187198864		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:242186209G>A	ENST00000391975.1	-	16	2135	c.1908C>T	c.(1906-1908)tgC>tgT	p.C636C	AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000310931.4_Silent_p.C636C|HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000427183.2_Silent_p.C603C|HDLBP_ENST00000476807.1_5'Flank	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	636	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGGCAGCTTCGCAGTTGGCTC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21413	0.0		0.001	False		,,,				2504	0.0					ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1906-1908)tgC>tgT		high density lipoprotein binding protein							144.0	146.0	145.0					2																	242186209		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242186209G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1908C>T	2.37:g.242186209G>A						HDLBP_ENST00000391976.2_Silent_p.C636C|HDLBP_ENST00000310931.4_Silent_p.C636C|HDLBP_ENST00000427183.2_Silent_p.C603C	p.C636C	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	16	2135	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	636			KH 7.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.1908C>T	CCDS2547.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	1.007|1.007	-0.688982|-0.688982	0.03328|0.03328	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000373292	.|.	.|.	.|.	6.16|6.16	-5.07|-5.07	0.02938|0.02938	.|.	.|.	.|.	.|.	.|.	T|.	0.62048|.	0.2396|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61787|.	-0.6991|.	4|.	.|.	.|.	.|.	-24.7838|-24.7838	13.8865|13.8865	0.63712|0.63712	0.5993:0.0:0.4007:0.0|0.5993:0.0:0.4007:0.0	.|.	.|.	.|.	.|.	V|X	24|445	.|.	.|.	A|R	-|-	2|1	0|2	HDLBP|HDLBP	241834882|241834882	0.243000|0.243000	0.23878|0.23878	0.382000|0.382000	0.26119|0.26119	0.009000|0.009000	0.06853|0.06853	-0.207000|-0.207000	0.09384|0.09384	-1.248000|-1.248000	0.02503|0.02503	-1.655000|-1.655000	0.00754|0.00754	GCG|CGA		0.458	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		59	53	0	0	0	1	0	59	53				
YME1L1	10730	broad.mit.edu	37	10	27401048	27401048	+	Splice_Site	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:27401048T>C	ENST00000326799.3	-	20	2328	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	YME1L1_ENST00000376016.3_Splice_Site_p.D670G|YME1L1_ENST00000375972.3_Splice_Site_p.D637G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	727					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCATATGAGTCCTGAAACAG	0.388																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.e20-1		YME1-like 1 ATPase							120.0	109.0	113.0					10																	27401048		2203	4300	6503	SO:0001630	splice_region_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27401048T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.2179-1A>G	10.37:g.27401048T>C						YME1L1_ENST00000375972.3_Splice_Site_p.D637_splice|YME1L1_ENST00000376016.3_Splice_Site_p.D670_splice	p.D727_splice	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			20	2328	-			727					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Splice_Site	SNP	ENST00000326799.3	37	c.2178_splice	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652714	0.67472	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.83506	-1.73;-1.73;-1.73	5.74	5.74	0.90152	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.295756	0.41712	D	0.000834	T	0.78246	0.4253	L	0.27944	0.81	0.53688	D	0.999972	P;B;B	0.36683	0.565;0.002;0.023	B;B;B	0.40825	0.341;0.008;0.133	T	0.79205	-0.1899	10	0.49607	T	0.09	-4.6465	16.0486	0.80740	0.0:0.0:0.0:1.0	.	637;670;727	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	G	670;727;727;637;473	ENSP00000365184:D670G;ENSP00000318480:D727G;ENSP00000365139:D637G	ENSP00000318480:D727G	D	-	2	0	YME1L1	27441054	1.000000	0.71417	0.995000	0.50966	0.481000	0.33189	6.209000	0.72171	2.183000	0.69458	0.533000	0.62120	GAC		0.388	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	Missense_Mutation	25	29	0	0	0	1	0	25	29				
MUC17	140453	broad.mit.edu	37	7	100684421	100684421	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:100684421C>A	ENST00000306151.4	+	3	9788	c.9724C>A	c.(9724-9726)Ctt>Att	p.L3242I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3242	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)					GGCTAGCATCCTTTCAACAAC	0.502																																						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.(9724-9726)Ctt>Att		mucin 17, cell surface associated							271.0	277.0	275.0					7																	100684421		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684421C>A	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.9724C>A	7.37:g.100684421C>A	ENSP00000302716:p.Leu3242Ile						p.L3242I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9788	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3242			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9724C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.063	0.566765	0.13560	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	0.441	0.441	0.16577	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.49062	-0.8978	9	0.36615	T	0.2	.	2.9376	0.05819	0.0:0.6159:0.0:0.3841	.	3242	Q685J3	MUC17_HUMAN	I	3242	ENSP00000302716:L3242I	ENSP00000302716:L3242I	L	+	1	0	MUC17	100471141	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.601000	0.05687	0.508000	0.28173	0.134000	0.15878	CTT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	377	1	0	0.014758	1	0.014758	5	377				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		13	71	0	0	0	1	0	13	71				
IGHG4	3503	broad.mit.edu	37	14	106090959	106090959	+	RNA	SNP	A	A	C	rs190355823	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:106090959A>C	ENST00000390543.2	-	0	837							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GAGCCGTCGGAGTCCAGCACG	0.602													N|||	3	0.000599042	0.0023	0.0	5008	,	,		24519	0.0		0.0	False		,,,				2504	0.0					ENST00000390543.2																			0															A		7,4051		0,7,2022	189.0	271.0	244.0			-4.6	0.0	14		244	0,8390		0,0,4195	no	intergenic				0,7,6217	CC,CA,AA		0.0,0.1725,0.0562			106090959	7,12441	2029	4195	6224			0							g.chr14:106090959A>C	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090959A>C														0	837	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.602	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		91	184	0	0	0	1	0	91	184				
HTR3A	3359	broad.mit.edu	37	11	113857278	113857278	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:113857278C>A	ENST00000504030.2	+	7	1189	c.744C>A	c.(742-744)agC>agA	p.S248R	HTR3A_ENST00000506841.2_Missense_Mutation_p.S248R|HTR3A_ENST00000355556.2_Missense_Mutation_p.S254R|HTR3A_ENST00000375498.2_Missense_Mutation_p.S254R|HTR3A_ENST00000299961.5_Missense_Mutation_p.S233R|HTR3A_ENST00000535865.1_De_novo_Start_InFrame			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	248					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	ATGTGGTCAGCCTGCTACTGC	0.602																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(742-744)agC>agA		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						72.0	70.0	71.0					11																	113857278		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857278C>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.744C>A	11.37:g.113857278C>A	ENSP00000424189:p.Ser248Arg					HTR3A_ENST00000299961.5_Missense_Mutation_p.S233R|HTR3A_ENST00000535865.1_De_novo_Start_InFrame|HTR3A_ENST00000355556.2_Missense_Mutation_p.S254R|HTR3A_ENST00000375498.2_Missense_Mutation_p.S254R|HTR3A_ENST00000506841.2_Missense_Mutation_p.S248R	p.S248R			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1189	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	248					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.744C>A		.	.	.	.	.	.	.	.	.	.	C	13.84	2.356892	0.41801	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	D;T;D;T;D	0.84370	-1.84;-0.49;-1.84;-0.49;-1.84	5.0	3.1	0.35709	.	0.174807	0.64402	D	0.000010	D	0.84160	0.5411	M	0.61703	1.905	0.80722	D	1	B;P;B	0.40909	0.072;0.732;0.072	B;P;B	0.44860	0.046;0.462;0.075	D	0.84695	0.0725	10	0.87932	D	0	-20.0316	9.7036	0.40203	0.0:0.8379:0.0:0.1621	.	233;254;254	B4DSY6;G5E986;Q7KZM7	.;.;.	R	248;254;254;248;233	ENSP00000424189:S248R;ENSP00000347754:S254R;ENSP00000364648:S254R;ENSP00000424776:S248R;ENSP00000299961:S233R	ENSP00000299961:S233R	S	+	3	2	HTR3A	113362488	1.000000	0.71417	0.999000	0.59377	0.497000	0.33675	1.315000	0.33608	1.234000	0.43709	0.561000	0.74099	AGC		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		4	26	1	0	0.00909568	1	0.00931224	4	26				
SPP1	6696	broad.mit.edu	37	4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	ENST00000395080.3	+	4	236	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_ENST00000237623.7_Missense_Mutation_p.P37S|SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	37					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.(109-111)Cca>Tca		secreted phosphoprotein 1							93.0	95.0	94.0					4																	88901213		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88901213C>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.109C>T	4.37:g.88901213C>T	ENSP00000378517:p.Pro37Ser					SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.P37S	p.P37S	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	4	257	+		Hepatocellular(203;0.114)	37					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.109C>T	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959912	0.53400	.	.	ENSG00000118785	ENST00000359072;ENST00000237623;ENST00000395080	T;T	0.27890	1.64;1.64	5.62	2.97	0.34412	.	0.198829	0.35708	N	0.003039	T	0.19725	0.0474	N	0.19112	0.55	0.46185	D	0.998916	P;P;P	0.45827	0.717;0.867;0.867	B;B;B	0.43194	0.32;0.411;0.411	T	0.02075	-1.1218	10	0.36615	T	0.2	-1.4696	8.134	0.31043	0.0:0.7464:0.0:0.2536	.	50;37;37	B7Z351;B2RDA1;P10451	.;.;OSTP_HUMAN	S	37	ENSP00000237623:P37S;ENSP00000378517:P37S	ENSP00000237623:P37S	P	+	1	0	SPP1	89120237	0.482000	0.25948	0.124000	0.21820	0.974000	0.67602	0.084000	0.14891	0.324000	0.23333	0.643000	0.83706	CCA		0.363	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			33	1	0	0	0	1	0	33	1				
MYH9	4627	broad.mit.edu	37	22	36697606	36697606	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:36697606T>G	ENST00000216181.5	-	21	2835	c.2605A>C	c.(2605-2607)Acg>Ccg	p.T869P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	869				T -> M (in Ref. 11; AAA36349). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCATCTCCGTGAGCCTGTTC	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2605-2607)Acg>Ccg		myosin, heavy chain 9, non-muscle							155.0	104.0	122.0					22																	36697606		2202	4300	6502	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36697606T>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2605A>C	22.37:g.36697606T>G	ENSP00000216181:p.Thr869Pro		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.T869P	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			21	2835	-			869	T -> M (in Ref. 7; AAA36349).				A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2605A>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.445314	0.25987	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.82984	-1.67	6.08	3.94	0.45596	.	0.491386	0.23314	N	0.049529	T	0.75087	0.3802	L	0.48642	1.525	0.25433	N	0.988163	B	0.09022	0.002	B	0.20955	0.032	T	0.66740	-0.5847	10	0.87932	D	0	.	4.2281	0.10590	0.2686:0.1349:0.0:0.5965	.	869	P35579	MYH9_HUMAN	P	733;869	ENSP00000216181:T869P	ENSP00000216181:T869P	T	-	1	0	MYH9	35027552	0.537000	0.26386	0.997000	0.53966	0.483000	0.33249	1.076000	0.30729	0.509000	0.28195	0.533000	0.62120	ACG		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		9	19	0	0	0	1	0	9	19				
NLRP8	126205	broad.mit.edu	37	19	56499192	56499192	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:56499192C>G	ENST00000291971.3	+	10	3131	c.3060C>G	c.(3058-3060)gcC>gcG	p.A1020A	NLRP8_ENST00000590542.1_Silent_p.A1001A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1020					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTATTCCTGCCTGGACTCGAA	0.488																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(3058-3060)gcC>gcG		NLR family, pyrin domain containing 8							139.0	108.0	118.0					19																	56499192		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56499192C>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.3060C>G	19.37:g.56499192C>G						NLRP8_ENST00000590542.1_Silent_p.A1001A	p.A1020A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	10	3131	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	1020					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.3060C>G	CCDS12937.1																																																																																				0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		14	8	0	0	0	1	0	14	8				
DHX9	1660	broad.mit.edu	37	1	182829136	182829136	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:182829136G>A	ENST00000367549.3	+	12	1259	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	383					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGATCTTGCAGGAGAGAGAGT	0.393																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1147-1149)caG>caA		DEAH (Asp-Glu-Ala-His) box helicase 9							119.0	114.0	115.0					1																	182829136		1879	4102	5981	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182829136G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1149G>A	1.37:g.182829136G>A							p.Q383Q	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			12	1259	+			383					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.1149G>A	CCDS41444.1																																																																																				0.393	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		24	81	0	0	0	1	0	24	81				
RGAG1	57529	broad.mit.edu	37	X	109696404	109696404	+	Silent	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:109696404A>T	ENST00000465301.2	+	3	2805	c.2559A>T	c.(2557-2559)acA>acT	p.T853T	RGAG1_ENST00000540313.1_Silent_p.T853T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	853										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAAGATCCACAGCCTCTGGAG	0.522																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2557-2559)acA>acT		retrotransposon gag domain containing 1							178.0	166.0	170.0					X																	109696404		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109696404A>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2559A>T	X.37:g.109696404A>T						RGAG1_ENST00000540313.1_Silent_p.T853T	p.T853T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2805	+			853					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.2559A>T	CCDS14552.1																																																																																				0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		81	104	0	0	0	1	0	81	104				
GANAB	23193	broad.mit.edu	37	11	62396692	62396692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:62396692C>A	ENST00000356638.3	-	16	1926	c.1910G>T	c.(1909-1911)gGg>gTg	p.G637V	GANAB_ENST00000346178.4_Missense_Mutation_p.G659V|GANAB_ENST00000540933.1_Missense_Mutation_p.G540V|GANAB_ENST00000534779.1_Missense_Mutation_p.G545V	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	637					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCCCACCAGCCCCAAGCTGAG	0.547																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1975-1977)gGg>gTg		glucosidase, alpha; neutral AB							95.0	89.0	91.0					11																	62396692		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396692C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1910G>T	11.37:g.62396692C>A	ENSP00000349053:p.Gly637Val					GANAB_ENST00000540933.1_Missense_Mutation_p.G540V|GANAB_ENST00000356638.3_Missense_Mutation_p.G637V|GANAB_ENST00000534779.1_Missense_Mutation_p.G545V	p.G659V	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			17	1991	-			637					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1976G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379013	0.61735	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.19	2.1	0.27182	Glycoside hydrolase, superfamily (1);	0.442499	0.23926	N	0.043192	D	0.96380	0.8819	M	0.88377	2.95	0.42729	D	0.993703	B;B;P;P	0.41080	0.391;0.391;0.737;0.692	P;P;P;P	0.54590	0.598;0.598;0.756;0.642	D	0.96395	0.9292	10	0.72032	D	0.01	-12.4555	15.7771	0.78232	0.0:0.3267:0.6733:0.0	.	523;545;637;659	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	V	659;637;545;540	ENSP00000340466:G659V;ENSP00000349053:G637V;ENSP00000435306:G545V;ENSP00000442962:G540V	ENSP00000340466:G659V	G	-	2	0	GANAB	62153268	0.072000	0.21174	0.991000	0.47740	1.000000	0.99986	0.876000	0.28092	0.252000	0.21531	0.655000	0.94253	GGG		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		37	34	1	0	5.73237e-09	1	6.60246e-09	37	34				
PIWIL3	440822	broad.mit.edu	37	22	25115444	25115444	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr22:25115444G>C	ENST00000332271.5	-	21	3060	c.2644C>G	c.(2644-2646)Ctt>Gtt	p.L882V	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.L764V|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L764V	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	882					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCAGGTCAAAGGTAAAAGAGA	0.483																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2644-2646)Ctt>Gtt		piwi-like RNA-mediated gene silencing 3							157.0	142.0	147.0					22																	25115444		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25115444G>C	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2644C>G	22.37:g.25115444G>C	ENSP00000330031:p.Leu882Val					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.L764V|PIWIL3_ENST00000533313.1_Missense_Mutation_p.L764V	p.L882V	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			21	3060	-			882						Missense_Mutation	SNP	ENST00000332271.5	37	c.2644C>G	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100547	0.56183	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.21734	1.99;1.99;1.99	3.14	-0.285	0.12866	Ribonuclease H-like (1);	0.093293	0.44902	U	0.000409	T	0.51856	0.1699	H	0.97587	4.035	0.50467	D	0.999876	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.75484	0.753;0.977;0.986	T	0.49943	-0.8885	10	0.87932	D	0	.	4.2655	0.10761	0.2221:0.0:0.5966:0.1813	.	764;873;882	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	V	882;764;764	ENSP00000330031:L882V;ENSP00000431843:L764V;ENSP00000435718:L764V	ENSP00000330031:L882V	L	-	1	0	PIWIL3	23445444	1.000000	0.71417	0.900000	0.35374	0.077000	0.17291	5.649000	0.67936	0.032000	0.15435	-0.266000	0.10368	CTT		0.483	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		46	46	0	0	0	1	0	46	46				
RAB4B	53916	broad.mit.edu	37	19	41289912	41289912	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:41289912A>G	ENST00000594800.1	+	5	522	c.362A>G	c.(361-363)aAc>aGc	p.N121S	MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.N121S|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000357052.2_Missense_Mutation_p.N121S			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	121					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCTGTGGCAACAAGAAGGAC	0.627																																						ENST00000594136.1																			0											c.(361-363)aAc>aGc									53.0	46.0	49.0					19																	41289912		2203	4300	6503	SO:0001583	missense	0							g.chr19:41289912A>G	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.362A>G	19.37:g.41289912A>G	ENSP00000470246:p.Asn121Ser					RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Missense_Mutation_p.N121S|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.N121S	p.N121S							5	467	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.362A>G	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354922	0.82243	.	.	ENSG00000167578	ENST00000357052	D	0.87809	-2.3	4.94	4.94	0.65067	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.92244	0.7540	H	0.96365	3.81	0.80722	D	1	P;P	0.49783	0.817;0.928	B;P	0.45610	0.4;0.487	D	0.94186	0.7436	10	0.87932	D	0	.	13.5552	0.61756	1.0:0.0:0.0:0.0	.	156;121	P61018-2;P61018	.;RAB4B_HUMAN	S	121	ENSP00000349560:N121S	ENSP00000349560:N121S	N	+	2	0	RAB4B	45981752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.207000	0.95064	1.848000	0.53677	0.346000	0.21813	AAC		0.627	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		12	14	0	0	0	1	0	12	14				
LIFR	3977	broad.mit.edu	37	5	38482078	38482078	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:38482078C>A	ENST00000263409.4	-	20	3075	c.2913G>T	c.(2911-2913)caG>caT	p.Q971H	LIFR_ENST00000453190.2_Missense_Mutation_p.Q971H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	971					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTAAATAACCTGTGCAGTCC	0.468			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2911-2913)caG>caT		leukemia inhibitory factor receptor alpha							154.0	149.0	151.0					5																	38482078		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482078C>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2913G>T	5.37:g.38482078C>A	ENSP00000263409:p.Gln971His					LIFR_ENST00000453190.2_Missense_Mutation_p.Q971H	p.Q971H	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3075	-	all_lung(31;0.00021)		971					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2913G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697720	0.30142	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.59083	0.29;0.29	6.06	-2.31	0.06765	.	0.000000	0.64402	D	0.000001	T	0.69251	0.3090	M	0.63428	1.95	0.42212	D	0.99181	D	0.89917	1.0	D	0.83275	0.996	T	0.68496	-0.5393	10	0.49607	T	0.09	-18.0429	15.238	0.73447	0.0:0.6465:0.0:0.3535	.	971	P42702	LIFR_HUMAN	H	971	ENSP00000263409:Q971H;ENSP00000398368:Q971H	ENSP00000263409:Q971H	Q	-	3	2	LIFR	38517835	0.582000	0.26749	0.077000	0.20336	0.041000	0.13682	-0.591000	0.05753	-0.661000	0.05345	-0.806000	0.03193	CAG		0.468	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		5	140	1	0	0.014758	1	0.014758	5	140				
RNF217	154214	broad.mit.edu	37	6	125283939	125283939	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:125283939A>G	ENST00000521654.2	+	1	249	c.249A>G	c.(247-249)gcA>gcG	p.A83A	RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA			Q8TC41	RN217_HUMAN	ring finger protein 217	83					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGAGCCGAGCACCGGCGCAGC	0.711																																						ENST00000521654.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(247-249)gcA>gcG		ring finger protein 217							21.0	24.0	23.0					6																	125283939		876	1991	2867	SO:0001819	synonymous_variant	154214				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr6:125283939A>G	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.249A>G	6.37:g.125283939A>G						RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000560949.1_5'UTR	p.A83A			Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	1	249	+			0					H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37	c.249A>G																																																																																					0.711	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		13	17	0	0	0	1	0	13	17				
EVI5L	115704	broad.mit.edu	37	19	7912636	7912636	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:7912636C>G	ENST00000270530.4	+	3	352	c.156C>G	c.(154-156)tcC>tcG	p.S52S	EVI5L_ENST00000538904.2_Silent_p.S52S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	52					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGGCCGACTCCAAGTCCATGC	0.662																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(154-156)tcC>tcG		ecotropic viral integration site 5-like							46.0	47.0	47.0					19																	7912636		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7912636C>G	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.156C>G	19.37:g.7912636C>G						EVI5L_ENST00000538904.2_Silent_p.S52S	p.S52S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			3	352	+			52					B9A6I9	Silent	SNP	ENST00000270530.4	37	c.156C>G	CCDS12188.1																																																																																				0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		16	20	0	0	0	1	0	16	20				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	102	0	0	0	1	0	5	102				
FBN1	2200	broad.mit.edu	37	15	48760142	48760142	+	Silent	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr15:48760142C>G	ENST00000316623.5	-	38	5195	c.4740G>C	c.(4738-4740)gtG>gtC	p.V1580V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1580	TB 6.				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)		TACATGTGTTCACAGCAGGAC	0.438																																						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.(4738-4740)gtG>gtC		fibrillin 1							95.0	95.0	95.0					15																	48760142		2198	4296	6494	SO:0001819	synonymous_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.chr15:48760142C>G	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.4740G>C	15.37:g.48760142C>G							p.V1580V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	38	5195	-		all_lung(180;0.00279)	1580			TB 6.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.4740G>C	CCDS32232.1																																																																																				0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			19	34	0	0	0	1	0	19	34				
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(355-357)caC>caT		olfactory receptor, family 51, subfamily F, member 2							189.0	167.0	174.0					11																	4842972		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842972C>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.357C>T	11.37:g.4842972C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.H119H	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	422	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	119					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.357C>T	CCDS31361.1																																																																																				0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		52	56	0	0	0	1	0	52	56				
ZNF354B	117608	broad.mit.edu	37	5	178310451	178310451	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:178310451A>T	ENST00000322434.3	+	5	1224	c.998A>T	c.(997-999)aAg>aTg	p.K333M	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCAGGAAGGCATCCAGT	0.393																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(997-999)aAg>aTg		zinc finger protein 354B							74.0	78.0	77.0					5																	178310451		2203	4299	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310451A>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.998A>T	5.37:g.178310451A>T	ENSP00000327143:p.Lys333Met						p.K333M	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1224	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	333					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.998A>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.760944	0.31137	.	.	ENSG00000178338	ENST00000322434	T	0.22134	1.97	3.62	3.62	0.41486	.	.	.	.	.	T	0.46560	0.1399	M	0.83223	2.63	0.39805	D	0.972621	D	0.89917	1.0	D	0.83275	0.996	T	0.53913	-0.8371	9	0.87932	D	0	-22.0131	10.2434	0.43326	1.0:0.0:0.0:0.0	.	333	Q96LW1	Z354B_HUMAN	M	333	ENSP00000327143:K333M	ENSP00000327143:K333M	K	+	2	0	ZNF354B	178243057	0.999000	0.42202	0.872000	0.34217	0.015000	0.08874	4.407000	0.59754	1.513000	0.48852	0.459000	0.35465	AAG		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		37	20	0	0	0	1	0	37	20				
ATP13A1	57130	broad.mit.edu	37	19	19765480	19765480	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:19765480C>T	ENST00000357324.6	-	13	1711	c.1685G>A	c.(1684-1686)aGc>aAc	p.S562N	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Missense_Mutation_p.S444N	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	562						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TACAGGGATGCTGGACACTGG	0.632																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1684-1686)aGc>aAc		ATPase type 13A1							113.0	92.0	99.0					19																	19765480		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19765480C>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1685G>A	19.37:g.19765480C>T	ENSP00000349877:p.Ser562Asn					ATP13A1_ENST00000291503.5_Missense_Mutation_p.S444N|ATP13A1_ENST00000496082.1_5'UTR	p.S562N	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			13	1711	-			562					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.1685G>A	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	8.912	0.958885	0.18507	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.67345	-0.26;-0.26	5.0	-0.13	0.13498	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.471388	0.26231	N	0.025567	T	0.38401	0.1039	N	0.04373	-0.215	0.21147	N	0.999779	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.17349	-1.0372	10	0.24483	T	0.36	-15.3724	10.1501	0.42788	0.0:0.5437:0.0:0.4563	.	562;444	Q9HD20;Q9HD20-2	AT131_HUMAN;.	N	444;562	ENSP00000291503:S444N;ENSP00000349877:S562N	ENSP00000291503:S444N	S	-	2	0	ATP13A1	19626480	1.000000	0.71417	0.960000	0.40013	0.479000	0.33129	1.594000	0.36697	-0.562000	0.06086	-1.598000	0.00824	AGC		0.632	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		17	20	0	0	0	1	0	17	20				
MYADM	91663	broad.mit.edu	37	19	54377623	54377623	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:54377623C>G	ENST00000391769.2	+	3	1120	c.840C>G	c.(838-840)agC>agG	p.S280R	MYADM_ENST00000336967.3_Missense_Mutation_p.S280R|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Missense_Mutation_p.S280R|MYADM_ENST00000391771.1_Missense_Mutation_p.S280R|MYADM_ENST00000391770.4_Missense_Mutation_p.S280R	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TAAGCTGCAGCCGCAGCCATG	0.617																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(838-840)agC>agG		myeloid-associated differentiation marker							53.0	47.0	49.0					19																	54377623		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377623C>G	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.840C>G	19.37:g.54377623C>G	ENSP00000375649:p.Ser280Arg					MYADM_ENST00000391768.2_Missense_Mutation_p.S280R|MYADM_ENST00000391770.4_Missense_Mutation_p.S280R|MYADM_ENST00000391771.1_Missense_Mutation_p.S280R|MYADM_ENST00000336967.3_Missense_Mutation_p.S280R	p.S280R	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	1120	+	Ovarian(34;0.19)		280			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.840C>G	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	6.094	0.385538	0.11524	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.3	-3.97	0.04094	Marvel (1);MARVEL-like domain (1);	0.859309	0.09772	N	0.757867	T	0.11324	0.0276	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37267	-0.9713	10	0.13108	T	0.6	-16.404	5.0337	0.14423	0.0:0.4011:0.2616:0.3373	.	280	Q96S97	MYADM_HUMAN	R	280;280;280;243;280;280	ENSP00000337222:S280R;ENSP00000375650:S280R;ENSP00000375651:S280R;ENSP00000375649:S280R;ENSP00000375648:S280R	ENSP00000337222:S280R	S	+	3	2	MYADM	59069435	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.696000	0.01912	-0.900000	0.03896	0.305000	0.20034	AGC		0.617	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		17	18	0	0	0	1	0	17	18				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		5	82	0	0	0	1	0	5	82				
FAM20A	54757	broad.mit.edu	37	17	66538845	66538845	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:66538845A>G	ENST00000592554.1	-	6	1640	c.918T>C	c.(916-918)ttT>ttC	p.F306F	FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	306					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CTGGAGAGACAAAGAAAACAC	0.522																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(916-918)ttT>ttC		family with sequence similarity 20, member A							105.0	105.0	105.0					17																	66538845		2203	4300	6503	SO:0001819	synonymous_variant	54757					extracellular region		g.chr17:66538845A>G	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.918T>C	17.37:g.66538845A>G						FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.F306F	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			6	1640	-	Breast(10;1.64e-13)		306					B2RN47|B2RN49|Q9UF95	Silent	SNP	ENST00000592554.1	37	c.918T>C	CCDS11679.1																																																																																				0.522	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		28	46	0	0	0	1	0	28	46				
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:2877779G>A	ENST00000398129.1	+	1	157	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000355842.3_Missense_Mutation_p.R46H|ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(136-138)cGc>cAc		adducin 1 (alpha)							118.0	114.0	115.0					4																	2877779		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877779G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.137G>A	4.37:g.2877779G>A	ENSP00000381197:p.Arg46His					ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398129.1_Missense_Mutation_p.R46H	p.R46H			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	1000	+			46					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.137G>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321310	0.95682	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.996;0.999;0.975;0.996;0.943	T	0.65492	-0.6155	10	0.87932	D	0	-17.3626	18.4459	0.90683	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46;46	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	46	ENSP00000264758:R46H;ENSP00000399828:R46H;ENSP00000381193:R46H;ENSP00000421918:R46H;ENSP00000421907:R46H;ENSP00000426700:R46H;ENSP00000423024:R46H;ENSP00000348100:R46H;ENSP00000381191:R46H;ENSP00000381197:R46H	ENSP00000264758:R46H	R	+	2	0	ADD1	2847577	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.356000	0.97091	2.597000	0.87782	0.591000	0.81541	CGC		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		28	30	0	0	0	1	0	28	30				
MGAM	8972	broad.mit.edu	37	7	141719066	141719066	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:141719066A>G	ENST00000549489.2	+	4	490	c.395A>G	c.(394-396)tAt>tGt	p.Y132C	MGAM_ENST00000475668.2_Missense_Mutation_p.Y132C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	132	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTGCTACTATTCCAAGAAT	0.507																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(394-396)tAt>tGt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						94.0	98.0	97.0					7																	141719066		2015	4182	6197	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719066A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.395A>G	7.37:g.141719066A>G	ENSP00000447378:p.Tyr132Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.Y132C	p.Y132C			O43451	MGA_HUMAN			4	449	+	Melanoma(164;0.0272)		132			P-type 1.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.395A>G	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402922	0.62288	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668;ENST00000548812	T;T;T	0.59906	0.23;0.23;0.23	4.85	2.25	0.28309	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.166856	0.28901	N	0.013773	T	0.72653	0.3487	M	0.83312	2.635	0.35081	D	0.763371	D	0.89917	1.0	D	0.72338	0.977	T	0.79009	-0.1978	10	0.87932	D	0	.	7.8032	0.29187	0.5529:0.0:0.0:0.4471	.	132	O43451	MGA_HUMAN	C	132;132;132;132;9	ENSP00000419372:Y132C;ENSP00000447378:Y132C;ENSP00000417103:Y132C	ENSP00000316431:Y9C	Y	+	2	0	MGAM	141365535	1.000000	0.71417	0.997000	0.53966	0.847000	0.48162	3.763000	0.55257	0.948000	0.37687	0.421000	0.28195	TAT		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			29	37	0	0	0	1	0	29	37				
CLEC16A	23274	broad.mit.edu	37	16	11133611	11133611	+	Splice_Site	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:11133611G>T	ENST00000409790.1	+	14	1768	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Splice_Site_p.G495V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGTTCCAGGCATGGATCCT	0.532																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.e14-1		C-type lectin domain family 16, member A							41.0	45.0	44.0					16																	11133611		2000	4179	6179	SO:0001630	splice_region_variant	23274							g.chr16:11133611G>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1538-1G>T	16.37:g.11133611G>T						CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Splice_Site_p.G495_splice	p.G513_splice	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			14	1768	+			513						Splice_Site	SNP	ENST00000409790.1	37	c.1537_splice	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367872	0.61513	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.56275	0.47	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76099	-0.3083	9	.	.	.	.	16.4619	0.84059	0.0:0.0:1.0:0.0	.	513;495	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	V	513;513;495	ENSP00000387122:G513V	.	G	+	2	0	CLEC16A	11041112	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.885000	0.87282	2.489000	0.83994	0.655000	0.94253	GGC		0.532	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	Missense_Mutation	3	7	1	0	0.004672	1	0.0048215	3	7				
BCAN	63827	broad.mit.edu	37	1	156617454	156617454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:156617454G>T	ENST00000329117.5	+	4	957	c.621G>T	c.(619-621)tgG>tgT	p.W207C	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.W207C|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	207	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCTGGCTGGCTGTCGGATC	0.662																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(619-621)tgG>tgT		brevican							80.0	85.0	83.0					1																	156617454		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617454G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.621G>T	1.37:g.156617454G>T	ENSP00000331210:p.Trp207Cys					BCAN_ENST00000361588.5_Missense_Mutation_p.W207C|RP11-284F21.7_ENST00000448869.1_RNA	p.W207C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			4	957	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		207			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.621G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209920	0.79240	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.28	4.28	0.50868	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000016	T	0.71796	0.3382	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.80834	-0.1205	10	0.87932	D	0	-4.4934	15.4434	0.75208	0.0:0.0:1.0:0.0	.	207;207	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	C	207;207;105;207	ENSP00000331210:W207C;ENSP00000389898:W207C;ENSP00000401709:W105C;ENSP00000354925:W207C	ENSP00000331210:W207C	W	+	3	0	BCAN	154884078	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.564000	0.98151	2.196000	0.70406	0.455000	0.32223	TGG		0.662	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		5	70	1	0	8.12818e-05	1	8.96184e-05	5	70				
NLRP8	126205	broad.mit.edu	37	19	56499191	56499191	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:56499191C>A	ENST00000291971.3	+	10	3130	c.3059C>A	c.(3058-3060)gCc>gAc	p.A1020D	NLRP8_ENST00000590542.1_Missense_Mutation_p.A1001D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1020					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTATTCCTGCCTGGACTCGA	0.488																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(3058-3060)gCc>gAc		NLR family, pyrin domain containing 8							140.0	108.0	119.0					19																	56499191		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56499191C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.3059C>A	19.37:g.56499191C>A	ENSP00000291971:p.Ala1020Asp					NLRP8_ENST00000590542.1_Missense_Mutation_p.A1001D	p.A1020D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	10	3130	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	1020					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.3059C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527833	0.27299	.	.	ENSG00000179709	ENST00000291971	T	0.74632	-0.86	1.44	-0.822	0.10819	.	.	.	.	.	T	0.64080	0.2566	N	0.08118	0	0.09310	N	1	D;B	0.59357	0.985;0.018	P;B	0.62184	0.899;0.005	T	0.54180	-0.8332	9	0.42905	T	0.14	.	3.9661	0.09433	0.0:0.5545:0.0:0.4455	.	1001;1020	Q86W28-2;Q86W28	.;NALP8_HUMAN	D	1020	ENSP00000291971:A1020D	ENSP00000291971:A1020D	A	+	2	0	NLRP8	61191003	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.350000	0.20079	-0.166000	0.10890	0.386000	0.25728	GCC		0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		14	7	1	0	5.01169e-05	1	5.57335e-05	14	7				
TIGD2	166815	broad.mit.edu	37	4	90034507	90034507	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:90034507C>G	ENST00000317005.2	+	1	540	c.382C>G	c.(382-384)Cga>Gga	p.R128G	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	128	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CTGGCTAACTCGATTTAAGCA	0.428																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(382-384)Cga>Gga		tigger transposable element derived 2							83.0	83.0	83.0					4																	90034507		2172	4296	6468	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034507C>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.382C>G	4.37:g.90034507C>G	ENSP00000317170:p.Arg128Gly						p.R128G	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	540	+		Hepatocellular(203;0.114)	128			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.382C>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	c	13.64	2.298906	0.40694	.	.	ENSG00000180346	ENST00000317005	T	0.29655	1.56	3.93	-0.372	0.12520	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.34291	U	0.004091	T	0.43942	0.1270	M	0.72624	2.21	0.28077	N	0.932333	D	0.89917	1.0	D	0.83275	0.996	T	0.25467	-1.0131	10	0.40728	T	0.16	-2.9584	3.8922	0.09123	0.4494:0.3517:0.0:0.1988	.	128	Q4W5G0	TIGD2_HUMAN	G	128	ENSP00000317170:R128G	ENSP00000317170:R128G	R	+	1	2	TIGD2	90253530	0.826000	0.29277	0.997000	0.53966	0.995000	0.86356	0.452000	0.21795	0.004000	0.14682	0.546000	0.68486	CGA		0.428	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		34	2	0	0	0	1	0	34	2				
LRBA	987	broad.mit.edu	37	4	151773724	151773724	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:151773724A>C	ENST00000357115.3	-	23	3381	c.3138T>G	c.(3136-3138)gaT>gaG	p.D1046E	LRBA_ENST00000507224.1_Missense_Mutation_p.D1046E|LRBA_ENST00000535741.1_Missense_Mutation_p.D1046E|LRBA_ENST00000510413.1_Missense_Mutation_p.D1046E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1046						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTCTAAATCATCTGCATTCC	0.358																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3136-3138)gaT>gaG		LPS-responsive vesicle trafficking, beach and anchor containing							121.0	114.0	117.0					4																	151773724		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773724A>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3138T>G	4.37:g.151773724A>C	ENSP00000349629:p.Asp1046Glu					LRBA_ENST00000357115.3_Missense_Mutation_p.D1046E|LRBA_ENST00000510413.1_Missense_Mutation_p.D1046E|LRBA_ENST00000507224.1_Missense_Mutation_p.D1046E	p.D1046E			P50851	LRBA_HUMAN			23	3611	-	all_hematologic(180;0.151)		1046					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3138T>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.583770	0.00872	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.53640	1.03;1.18;1.03;0.61	5.77	-1.53	0.08611	.	1.001370	0.08052	N	0.996767	T	0.21468	0.0517	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24728	-1.0152	10	0.02654	T	1	.	0.9947	0.01464	0.4794:0.1208:0.1668:0.233	.	1046;1046	P50851;P50851-2	LRBA_HUMAN;.	E	1046	ENSP00000446299:D1046E;ENSP00000421552:D1046E;ENSP00000349629:D1046E;ENSP00000422180:D1046E	ENSP00000349629:D1046E	D	-	3	2	LRBA	151993174	0.000000	0.05858	0.112000	0.21494	0.244000	0.25665	-0.843000	0.04350	-0.068000	0.12953	0.533000	0.62120	GAT		0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			72	1	0	0	0	1	0	72	1				
TM4SF20	79853	broad.mit.edu	37	2	228230942	228230942	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:228230942A>G	ENST00000304568.3	-	3	305	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		ATCACACTGAAAAGTGATGAA	0.383																																						ENST00000304568.3																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10						c.(268-270)Ttc>Ctc		transmembrane 4 L six family member 20							108.0	104.0	106.0					2																	228230942		2203	4300	6503	SO:0001583	missense	79853					integral to membrane|plasma membrane		g.chr2:228230942A>G	AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.268T>C	2.37:g.228230942A>G	ENSP00000303028:p.Phe90Leu						p.F90L	NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	3	305	-		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	90					B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	ENST00000304568.3	37	c.268T>C	CCDS2466.1	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.307517	0.01342	.	.	ENSG00000168955	ENST00000304568	T	0.32515	1.45	6.03	-5.5	0.02576	.	0.726709	0.12987	N	0.422764	T	0.08403	0.0209	N	0.03050	-0.425	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.38394	-0.9663	10	0.02654	T	1	-0.5017	8.9151	0.35576	0.3199:0.0:0.5583:0.1218	.	90	Q53R12	T4S20_HUMAN	L	90	ENSP00000303028:F90L	ENSP00000303028:F90L	F	-	1	0	TM4SF20	227939186	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-1.736000	0.01845	-0.741000	0.04797	0.533000	0.62120	TTC		0.383	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256896.2	NM_024795		4	57	0	0	0	1	0	4	57				
M6PR	4074	broad.mit.edu	37	12	9096440	9096440	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:9096440C>T	ENST00000000412.3	-	4	878	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	137					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	CACTGCACGACGCTGCTCCTT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(409-411)cGt>cAt		mannose-6-phosphate receptor (cation dependent)							119.0	97.0	105.0					12																	9096440		2203	4300	6503	SO:0001583	missense	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9096440C>T		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.410G>A	12.37:g.9096440C>T	ENSP00000000412:p.Arg137His						p.R137H	NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	4	878	-		Hepatocellular(102;0.137)	137					A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	c.410G>A	CCDS8598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.493031|5.493031	0.96339|0.96339	.|.	.|.	ENSG00000003056|ENSG00000003056	ENST00000000412;ENST00000544245|ENST00000537621	T|.	0.79247|.	-1.25|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Mannose-6-phosphate receptor, binding (1);|.	0.045472|.	0.85682|.	D|.	0.000000|.	T|T	0.77452|0.77452	0.4132|0.4132	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.75866|0.75866	-0.3166|-0.3166	10|5	0.45353|.	T|.	0.12|.	-10.4425|-10.4425	19.472|19.472	0.94966|0.94966	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	137|.	P20645|.	MPRD_HUMAN|.	H|I	137;19|15	ENSP00000000412:R137H|.	ENSP00000000412:R137H|.	R|V	-|-	2|1	0|0	M6PR|M6PR	8987707|8987707	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.998000|0.998000	0.95712|0.95712	7.140000|7.140000	0.77322|0.77322	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.522	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			30	30	0	0	0	1	0	30	30				
SSMEM1	136263	broad.mit.edu	37	7	129855965	129855965	+	Silent	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr7:129855965G>A	ENST00000297819.3	+	3	441	c.390G>A	c.(388-390)agG>agA	p.R130R		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	130						integral component of membrane (GO:0016021)											GACGAGCCAGGCGCCAGTCTC	0.483																																						ENST00000297819.3																			0											c.(388-390)agG>agA		serine-rich single-pass membrane protein 1							99.0	94.0	96.0					7																	129855965		2203	4300	6503	SO:0001819	synonymous_variant	136263							g.chr7:129855965G>A	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.390G>A	7.37:g.129855965G>A							p.R130R	NM_145268.3	NP_660311.1					3	441	+									Silent	SNP	ENST00000297819.3	37	c.390G>A	CCDS5816.1																																																																																				0.483	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		19	20	0	0	0	1	0	19	20				
RHBG	57127	broad.mit.edu	37	1	156347994	156347994	+	Intron	SNP	G	G	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:156347994G>A	ENST00000368249.1	+	4	563				RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000400992.2_Silent_p.Q127Q|RHBG_ENST00000451864.2_Silent_p.Q127Q	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCTGAGCCAGGAGCGTGGGG	0.632																																						ENST00000400992.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(379-381)caG>caA		Rh family, B glycoprotein (gene/pseudogene)							23.0	25.0	25.0					1																	156347994		1903	4131	6034	SO:0001627	intron_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156347994G>A	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.526-49G>A	1.37:g.156347994G>A						RHBG_ENST00000255013.3_Intron|RHBG_ENST00000368246.2_Intron|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000451864.2_Silent_p.Q127Q|RHBG_ENST00000537040.1_Intron	p.Q127Q			Q9H310	RHBG_HUMAN			4	749	+	Hepatocellular(266;0.158)		177					A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.381G>A																																																																																					0.632	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		17	24	0	0	0	1	0	17	24				
ANKRD24	170961	broad.mit.edu	37	19	4217148	4217148	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:4217148C>A	ENST00000600132.1	+	18	2267	c.1991C>A	c.(1990-1992)cCc>cAc	p.P664H	ANKRD24_ENST00000262970.5_Missense_Mutation_p.P754H|ANKRD24_ENST00000318934.4_Missense_Mutation_p.P664H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	664										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGCAGAGCCCCCAGTCACA	0.607																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(1990-1992)cCc>cAc		ankyrin repeat domain 24							32.0	40.0	37.0					19																	4217148		2145	4248	6393	SO:0001583	missense	170961							g.chr19:4217148C>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1991C>A	19.37:g.4217148C>A	ENSP00000471252:p.Pro664His					ANKRD24_ENST00000318934.4_Missense_Mutation_p.P664H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P754H	p.P664H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	2267	+			664					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.1991C>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	7.680	0.688908	0.14973	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.32988	1.43;1.52	3.07	-3.83	0.04269	.	1.300580	0.06049	U	0.656256	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24584	-1.0156	10	0.42905	T	0.14	.	5.3716	0.16142	0.2975:0.4824:0.0:0.2201	.	664;754	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	664;754	ENSP00000321731:P664H;ENSP00000262970:P754H	ENSP00000262970:P754H	P	+	2	0	ANKRD24	4168148	0.066000	0.20996	0.000000	0.03702	0.004000	0.04260	1.647000	0.37260	-1.033000	0.03299	-0.723000	0.03601	CCC		0.607	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		8	10	1	0	0.000157383	1	0.000170609	8	10				
MUC16	94025	broad.mit.edu	37	19	9085338	9085338	+	Silent	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:9085338A>G	ENST00000397910.4	-	1	6680	c.6477T>C	c.(6475-6477)ctT>ctC	p.L2159L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2159	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGATGTAAGGCCAGAAA	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6475-6477)ctT>ctC		mucin 16, cell surface associated							59.0	59.0	59.0					19																	9085338		1917	4127	6044	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085338A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6477T>C	19.37:g.9085338A>G							p.L2159L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6680	-			2159			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.6477T>C	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	29	0	0	0	1	0	28	29				
HECW2	57520	broad.mit.edu	37	2	197080595	197080595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:197080595A>G	ENST00000260983.3	-	28	4783	c.4601T>C	c.(4600-4602)cTt>cCt	p.L1534P	snoU13_ENST00000459047.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.L1178P	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1534	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTACCTGGGAAGAGCAGTGAT	0.368																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(4600-4602)cTt>cCt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							66.0	67.0	67.0					2																	197080595		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197080595A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4601T>C	2.37:g.197080595A>G	ENSP00000260983:p.Leu1534Pro					HECW2_ENST00000409111.1_Missense_Mutation_p.L1178P	p.L1534P	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			28	4783	-			1534			HECT.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.4601T>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473531	0.84640	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.79454	-1.27;-1.27	5.35	5.35	0.76521	HECT (4);	0.000000	0.85682	D	0.000000	D	0.92031	0.7475	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.87932	D	0	.	15.4969	0.75662	1.0:0.0:0.0:0.0	.	1534	Q9P2P5	HECW2_HUMAN	P	1178;1534	ENSP00000386775:L1178P;ENSP00000260983:L1534P	ENSP00000260983:L1534P	L	-	2	0	HECW2	196788840	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.758000	0.91663	2.243000	0.73865	0.533000	0.62120	CTT		0.368	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		21	35	0	0	0	1	0	21	35				
GPR98	84059	broad.mit.edu	37	5	89989876	89989876	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:89989876C>T	ENST00000405460.2	+	33	7399	c.7303C>T	c.(7303-7305)Ccc>Tcc	p.P2435S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2435					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGTGGGGGAGCCCCTGTATAC	0.493																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7303-7305)Ccc>Tcc		G protein-coupled receptor 98							89.0	86.0	87.0					5																	89989876		1924	4119	6043	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989876C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7303C>T	5.37:g.89989876C>T	ENSP00000384582:p.Pro2435Ser						p.P2435S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7399	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2435					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7303C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	2.548	-0.304714	0.05495	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26957	1.7	5.92	5.03	0.67393	.	0.201022	0.53938	D	0.000056	T	0.23492	0.0568	L	0.54323	1.7	0.80722	D	1	B;B	0.27882	0.168;0.192	B;B	0.22753	0.03;0.041	T	0.03597	-1.1021	10	0.34782	T	0.22	.	10.3204	0.43762	0.1403:0.79:0.0:0.0696	.	2435;2435	E7ETI5;Q8WXG9	.;GPR98_HUMAN	S	2435	ENSP00000384582:P2435S	ENSP00000296619:P2435S	P	+	1	0	GPR98	90025632	0.286000	0.24305	0.826000	0.32828	0.021000	0.10359	1.160000	0.31761	1.438000	0.47492	0.655000	0.94253	CCC		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	15	0	0	0	1	0	16	15				
SMARCE1	6605	broad.mit.edu	37	17	38785176	38785176	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:38785176T>C	ENST00000348513.6	-	11	1877	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D296G|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D331G|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D296G|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D348G	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	366	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				ACTCTCCTTGTCCTCAGGAGT	0.517																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(1096-1098)gAc>gGc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							138.0	114.0	122.0					17																	38785176		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38785176T>C	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.1097A>G	17.37:g.38785176T>C	ENSP00000323967:p.Asp366Gly					SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D296G|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D331G|SMARCE1_ENST00000377808.4_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.D348G|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D296G|KRT222_ENST00000476049.1_3'UTR	p.D366G	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			11	1877	-		Breast(137;0.000812)	366			Glu-rich.		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.1097A>G	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.840633	0.51057	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889	T;T	0.19806	2.12;2.12	4.99	3.88	0.44766	.	0.231320	0.50627	D	0.000115	T	0.12860	0.0312	N	0.24115	0.695	0.45087	D	0.998109	B;B	0.30482	0.281;0.18	B;B	0.21360	0.034;0.034	T	0.08973	-1.0696	10	0.35671	T	0.21	.	11.245	0.48991	0.1372:0.0:0.0:0.8628	.	331;366	C0IMW4;Q969G3	.;SMCE1_HUMAN	G	366;296;348	ENSP00000323967:D366G;ENSP00000445370:D348G	ENSP00000323967:D366G	D	-	2	0	SMARCE1	36038702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.278000	0.58946	0.983000	0.38602	0.533000	0.62120	GAC		0.517	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		49	36	0	0	0	1	0	49	36				
DENND1C	79958	broad.mit.edu	37	19	6475898	6475898	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:6475898C>A	ENST00000381480.2	-	11	841	c.729G>T	c.(727-729)tgG>tgT	p.W243C	DENND1C_ENST00000543576.1_Missense_Mutation_p.W199C|DENND1C_ENST00000591030.1_5'Flank	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	243	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCACGTGCTCCCAGCGCATGG	0.721																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(727-729)tgG>tgT		DENN/MADD domain containing 1C							9.0	11.0	11.0					19																	6475898		2145	4237	6382	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6475898C>A	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.729G>T	19.37:g.6475898C>A	ENSP00000370889:p.Trp243Cys					DENND1C_ENST00000543576.1_Missense_Mutation_p.W199C	p.W243C	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			11	841	-			243			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.729G>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838941	0.91117	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.27720	1.65;1.65	5.3	5.3	0.74995	DENN (3);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77574	-0.2537	10	0.87932	D	0	-14.6804	16.4397	0.83896	0.0:1.0:0.0:0.0	.	243	Q8IV53	DEN1C_HUMAN	C	243;199	ENSP00000370889:W243C;ENSP00000437805:W199C	ENSP00000370889:W243C	W	-	3	0	DENND1C	6426898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.117000	0.77129	2.493000	0.84123	0.555000	0.69702	TGG		0.721	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		3	2	1	0	0.004672	1	0.0048215	3	2				
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT														0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			58	160						58	160	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		3	3						3	3	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(676-678)cct>cGCAct		ataxin 1																																				SO:0001652	inframe_insertion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327864_16327865insTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup					ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1613_1614	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	226					Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	c.677_678insGCA	CCDS34342.1																																																																																				0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	6						4	6	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	lincRNA	DEL	AC	AC	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		ACTGAGGGGTacacacacacac	0.5																																						ENST00000606573.1																			0																																																			0							g.chr8:7196263_7196264delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7196273_7196274delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.500	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		2	4						2	4	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53459220	53459222	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr10:53459220_53459222delCTC	ENST00000331173.4	-	1	133_135	c.88_90delGAG	c.(88-90)gagdel	p.E30del	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	30	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCTTTAACTGCTCCTCAGTTGCC	0.512																																						ENST00000331173.4																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(88-90)del		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant																																				SO:0001651	inframe_deletion	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53459220_53459222delCTC	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.88_90delGAG	10.37:g.53459223_53459225delCTC	ENSP00000332444:p.Glu30del					PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	p.E30del	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	133_135	-			30			RRM.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	In_Frame_Del	DEL	ENST00000331173.4	37	c.88_90delGAG	CCDS7245.1																																																																																				0.512	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		48	117						48	117	---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	678724	678726	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:678724_678726delCTT	ENST00000382409.3	-	9	1707_1709	c.1223_1225delAAG	c.(1222-1227)gaagct>gct	p.E408del	DEAF1_ENST00000338675.6_In_Frame_Del_p.E319del|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	408	Interaction with LMO4. {ECO:0000250}.|Pro-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCAACGCAGCTTCTGGAAACGG	0.522																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1222-1227)gct>g		DEAF1 transcription factor																																				SO:0001651	inframe_deletion	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:678724_678726delCTT	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1223_1225delAAG	11.37:g.678724_678726delCTT	ENSP00000371846:p.Glu408del					DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_In_Frame_Del_p.EA319del	p.EA408del	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	9	1707_1709	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	408			Pro-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	In_Frame_Del	DEL	ENST00000382409.3	37	c.1223_1225delAAG	CCDS31327.1																																																																																				0.522	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		36	115						36	115	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(130-132)ggc>GGCTGTGGCTCCggc	p.44_44G>GCGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCTGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCTGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCTGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCTGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			31	23						31	23	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58124659	58124659	+	Frame_Shift_Del	DEL	C	C	-	rs113544406	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:58124659delC	ENST00000547588.1	-	11	2222	c.2223delG	c.(2221-2223)ccgfs	p.P741fs	AGAP2_ENST00000257897.3_Frame_Shift_Del_p.P405fs	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	741	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						AGATGGCCCTCGGGGGCCGCT	0.587																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1213-1215)ccfs		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							31.0	31.0	31.0					12																	58124659		2203	4300	6503	SO:0001589	frameshift_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124659delC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2223delG	12.37:g.58124659delC	ENSP00000449241:p.Pro741fs					AGAP2_ENST00000547588.1_Frame_Shift_Del_p.P741fs	p.P405fs	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			11	1300	-			741			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Frame_Shift_Del	DEL	ENST00000547588.1	37	c.1215delG	CCDS44932.1																																																																																				0.587	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		8	17						8	17	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11001040	11001042	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:11001040_11001042delTTG	ENST00000324288.8	+	11	1824_1826	c.1691_1693delTTG	c.(1690-1695)tttgag>tag	p.564_565FE>*	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	564	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GACGCCCTATTTGAGCTGTCCGG	0.631			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1690-1695)tag>t		class II, major histocompatibility complex, transactivator																																				SO:0001651	inframe_deletion	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001040_11001042delTTG	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1691_1693delTTG	16.37:g.11001040_11001042delTTG	ENSP00000316328:p.Phe564_Glu565delins*					CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	p.FE564del	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1824_1826	+			564			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	In_Frame_Del	DEL	ENST00000324288.8	37	c.1691_1693delTTG	CCDS10544.1																																																																																				0.631	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		12	16						12	16	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			2	4						2	4	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		8	52						8	52	---	---	---	---
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083|rs76926791|rs71369084|rs9908743|rs180817296|rs532458474|rs571617320|rs71145728|rs75457484|rs372740125|rs184547508	byFrequency	TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)gaccccgaggccctcaagggcttccaccccgaccccaaggccctcaagggcttccaccccdel	p.DPEALKGFHPDPKALKGFHP318del	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681																																						ENST00000360127.6																			5	Substitution - coding silent(5)	p.G334G(4)|p.P327P(1)	lung(2)|kidney(2)|prostate(1)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(952-1011)del		chromosome 17 open reading frame 97				1725,2215		384,957,629						-4.1	0.0		dbSNP_130	25	2103,5705		403,1297,2204	no	coding	C17orf97	NM_001013672.4		787,2254,2833	A1A1,A1R,RR		26.9339,43.7817,32.5843				3828,7920				SO:0001651	inframe_deletion	400566							g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	17.37:g.263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENSP00000353245:p.Asp318_Pro337del					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.DPEALKGFHPDPKALKGFHP318del	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	968_1027	+			348			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	In_Frame_Del	DEL	ENST00000360127.6	37	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	CCDS32519.2																																																																																				0.681	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		12	17						12	17	---	---	---	---
RP11-308D16.4	0	broad.mit.edu	37	X	136030244	136030245	+	RNA	INS	-	-	T			TCGA-DU-6404-02A-21D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e938b4c-fcb0-429e-88e9-ced190dcf6d1	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:136030244_136030245insT	ENST00000424306.1	+	0	2052																											TGAGAACCTGCTTTTTTTTTTT	0.441																																						ENST00000424306.1																			0																																																			0							g.chrX:136030244_136030245insT																													X.37:g.136030255_136030255dupT														0	2052	+									RNA	INS	ENST00000424306.1	37																																																																																						0.441	RP11-308D16.4-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000058514.2			3	3						3	3	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17721696	17721698	+	RNA	DEL	TTT	TTT	-	rs564572505|rs35197313|rs369334834	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:17721696_17721698delTTT	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTTTTCttgttttttttttttt	0.483																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721696_17721698delTTT	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721705_17721707delTTT										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.483	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		3	4						3	4	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54148051	54148051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:54148051delG	ENST00000404125.1	-	18	2292	c.2237delC	c.(2236-2238)cctfs	p.P747fs	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	747					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCAGAAGGAGGCTTGTCAAA	0.378																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2236-2238)ctfs		proteasome (prosome, macropain) activator subunit 4							110.0	114.0	113.0					2																	54148051		2203	4300	6503	SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54148051delG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2237delC	2.37:g.54148051delG	ENSP00000384211:p.Pro747fs					PSME4_ENST00000421748.2_Intron	p.P747fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		18	2292	-			747					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Del	DEL	ENST00000404125.1	37	c.2237delC	CCDS33197.2																																																																																				0.378	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	52						8	52	---	---	---	---
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT														0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			28	107						28	107	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2172436	2172437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:2172436_2172437insA	ENST00000511885.2	-	13	1876_1877	c.1523_1524insT	c.(1522-1524)ttgfs	p.L508fs	POLN_ENST00000382865.1_Frame_Shift_Ins_p.L508fs|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	508					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGTATTTCTGCAACCCCGTTCT	0.436								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1522-1524)tcafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu																																				SO:0001589	frameshift_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2172436_2172437insA	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1524dupT	4.37:g.2172438_2172438dupA	ENSP00000435506:p.Leu508fs					POLN_ENST00000382865.1_Frame_Shift_Ins_p.S508fs|POLN_ENST00000515357.1_5'UTR	p.S508fs			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		13	1876_1877	-			508					A2A336|B4E158|Q4TTW4|Q6ZNF4	Frame_Shift_Ins	INS	ENST00000511885.2	37	c.1523_1524insT	CCDS3360.1																																																																																				0.436	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		7	124						7	124	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	2						4	2	---	---	---	---
PTCRA	171558	broad.mit.edu	37	6	42890769	42890769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:42890769delG	ENST00000304672.1	+	2	144	c.63delG	c.(61-63)gtgfs	p.V21fs	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	21					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TTGCAGGTGTGGGCGGCACAC	0.562																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(61-63)gtfs		pre T-cell antigen receptor alpha							74.0	72.0	72.0					6																	42890769		2203	4300	6503	SO:0001589	frameshift_variant	171558					integral to membrane	receptor activity	g.chr6:42890769delG	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.63delG	6.37:g.42890769delG	ENSP00000304447:p.Val21fs					PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	p.V21fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	144	+	Colorectal(47;0.196)		21					Q5TFZ7	Frame_Shift_Del	DEL	ENST00000304672.1	37	c.63delG	CCDS4874.1																																																																																				0.562	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		23	14						23	14	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	lincRNA	DEL	AC	AC	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		ACTGAGGGGTacacacacacac	0.5																																						ENST00000606573.1																			0																																																			0							g.chr8:7196263_7196264delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7196273_7196274delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.500	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		3	4						3	4	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.F534I(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1602)aatcaafs		potassium voltage-gated channel, KQT-like subfamily, member 3																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs	p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019_2020	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		8	169						8	169	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		7	3						7	3	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(130-132)ggc>GGCTGTGGCTCCggc	p.44_44G>GCGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCTGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCTGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCTGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCTGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			120	50						120	50	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62397884	62397884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr11:62397884delC	ENST00000356638.3	-	12	1496	c.1480delG	c.(1480-1482)gatfs	p.D494fs	GANAB_ENST00000346178.4_Frame_Shift_Del_p.D516fs|GANAB_ENST00000540933.1_Frame_Shift_Del_p.D397fs|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000534779.1_Frame_Shift_Del_p.D402fs	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	494					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCAGAGCCATCCCGGGTTTTA	0.597																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1546-1548)atfs		glucosidase, alpha; neutral AB							52.0	50.0	51.0					11																	62397884		2202	4299	6501	SO:0001589	frameshift_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397884delC	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1480delG	11.37:g.62397884delC	ENSP00000349053:p.Asp494fs					GANAB_ENST00000540933.1_Frame_Shift_Del_p.D397fs|GANAB_ENST00000534779.1_Frame_Shift_Del_p.D402fs|GANAB_ENST00000356638.3_Frame_Shift_Del_p.D494fs	p.D516fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			13	1561	-			494					A6NC20|Q8WTS9|Q9P0X0	Frame_Shift_Del	DEL	ENST00000356638.3	37	c.1546delG	CCDS8026.1																																																																																				0.597	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		24	26						24	26	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C	rs370431415		TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(265-270)ggccgcfs		neurotrophin 3																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs					NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron	p.R90fs	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	479_480	+			77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.267_268insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			14	51						14	51	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		10	42						10	42	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763868	72763868	+	RNA	DEL	C	C	-	rs201460117	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr16:72763868delC	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAA	0.433																																						ENST00000563328.2																			0																																																			0							g.chr16:72763868delC																													16.37:g.72763868delC														0	164	+									RNA	DEL	ENST00000563328.2	37																																																																																						0.433	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			2	4						2	4	---	---	---	---
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083|rs76926791|rs71369084|rs9908743|rs180817296|rs532458474|rs571617320|rs71145728|rs75457484|rs372740125|rs184547508	byFrequency	TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)gaccccgaggccctcaagggcttccaccccgaccccaaggccctcaagggcttccaccccdel	p.DPEALKGFHPDPKALKGFHP318del	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681																																						ENST00000360127.6																			5	Substitution - coding silent(5)	p.G334G(4)|p.P327P(1)	lung(2)|kidney(2)|prostate(1)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(952-1011)del		chromosome 17 open reading frame 97				1725,2215		384,957,629						-4.1	0.0		dbSNP_130	25	2103,5705		403,1297,2204	no	coding	C17orf97	NM_001013672.4		787,2254,2833	A1A1,A1R,RR		26.9339,43.7817,32.5843				3828,7920				SO:0001651	inframe_deletion	400566							g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	17.37:g.263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENSP00000353245:p.Asp318_Pro337del					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.DPEALKGFHPDPKALKGFHP318del	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	968_1027	+			348			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	In_Frame_Del	DEL	ENST00000360127.6	37	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	CCDS32519.2																																																																																				0.681	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		7	29						7	29	---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129377549	129377573	+	Frame_Shift_Del	DEL	ATTCTCAACAGTAACAGAGCTTTGT	ATTCTCAACAGTAACAGAGCTTTGT	-			TCGA-DU-6404-02B-11D-A36O-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87d134-4f50-4591-8693-fbb929e2f332	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:129377549_129377573delATTCTCAACAGTAACAGAGCTTTGT	ENST00000370978.4	-	5	498_522	c.345_369delACAAAGCTCTGTTACTGTTGAGAAT	c.(343-369)tcacaaagctctgttactgttgagaatfs	p.SQSSVTVEN115fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	115	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTTTAGACGCATTCTCAACAGTAACAGAGCTTTGTGAAGATTTAG	0.4																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(343-369)tcfs		zinc finger protein 280C																																				SO:0001589	frameshift_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129377549_129377573delATTCTCAACAGTAACAGAGCTTTGT	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.345_369delACAAAGCTCTGTTACTGTTGAGAAT	X.37:g.129377549_129377573delATTCTCAACAGTAACAGAGCTTTGT	ENSP00000360017:p.Ser115fs						p.SQSSVTVEN115fs	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			5	498_522	-			115			Ser-rich.		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	c.345_369delACAAAGCTCTGTTACTGTTGAGAAT	CCDS14622.1																																																																																				0.400	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		8	85						8	85	---	---	---	---
