#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	107	0	0	0	1	0	4	107				
CACNA1E	777	broad.mit.edu	37	1	181707520	181707520	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:181707520C>T	ENST00000367573.2	+	24	3570	c.3570C>T	c.(3568-3570)gaC>gaT	p.D1190D	CACNA1E_ENST00000360108.3_Silent_p.D1171D|CACNA1E_ENST00000358338.5_Silent_p.D1122D|CACNA1E_ENST00000367567.4_Silent_p.D797D|CACNA1E_ENST00000367570.1_Silent_p.D1190D|CACNA1E_ENST00000526775.1_Silent_p.D1171D|CACNA1E_ENST00000357570.5_Silent_p.D1141D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1190					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTATTTTGACTATGTGTTCA	0.478																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3511-3513)gaC>gaT		calcium channel, voltage-dependent, R type, alpha 1E subunit							267.0	278.0	275.0					1																	181707520		1966	4162	6128	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181707520C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3570C>T	1.37:g.181707520C>T						CACNA1E_ENST00000360108.3_Silent_p.D1171D|CACNA1E_ENST00000367570.1_Silent_p.D1190D|CACNA1E_ENST00000367567.4_Silent_p.D797D|CACNA1E_ENST00000357570.5_Silent_p.D1141D|CACNA1E_ENST00000367573.2_Silent_p.D1190D|CACNA1E_ENST00000358338.5_Silent_p.D1122D	p.D1171D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			23	3678	+			1190					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3513C>T	CCDS55664.1																																																																																				0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	199	0	0	0	1	0	7	199				
MUC16	94025	broad.mit.edu	37	19	9058837	9058837	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:9058837G>T	ENST00000397910.4	-	3	28812	c.28609C>A	c.(28609-28611)Cca>Aca	p.P9537T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9539	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						GAGAAGCCTGGGGAAGAGGAA	0.483																																						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.(28609-28611)Cca>Aca		mucin 16, cell surface associated							112.0	109.0	110.0					19																	9058837		1937	4143	6080	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058837G>T	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.28609C>A	19.37:g.9058837G>T	ENSP00000381008:p.Pro9537Thr						p.P9537T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28812	-			9539			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28609C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.805	-0.040830	0.07452	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.42	-4.18	0.03846	.	.	.	.	.	T	0.12178	0.0296	L	0.29908	0.895	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.35847	-0.9772	8	0.87932	D	0	.	2.4203	0.04447	0.3388:0.0:0.2784:0.3829	.	9537	B5ME49	.	T	9537	ENSP00000381008:P9537T	ENSP00000381008:P9537T	P	-	1	0	MUC16	8919837	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.230000	0.17852	-0.892000	0.03935	0.305000	0.20034	CCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	57	1	0	0.000157383	1	0.000165352	7	57				
SLC2A10	81031	broad.mit.edu	37	20	45354099	45354099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr20:45354099G>A	ENST00000359271.2	+	2	674	c.424G>A	c.(424-426)Ggc>Agc	p.G142S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	142			G -> V (in ATS). {ECO:0000269|PubMed:17935213}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTATGAGGCAGGCATCACCGT	0.622																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(424-426)Ggc>Agc		solute carrier family 2 (facilitated glucose transporter), member 10							106.0	95.0	98.0					20																	45354099		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354099G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.424G>A	20.37:g.45354099G>A	ENSP00000352216:p.Gly142Ser						p.G142S	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	674	+		Myeloproliferative disorder(115;0.0122)	142		G -> V (in ATS).			A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.424G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813346	0.32053	.	.	ENSG00000197496	ENST00000359271	D	0.82167	-1.58	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85410	0.5690	N	0.25332	0.735	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	T	0.81523	-0.0894	10	0.16420	T	0.52	5.2973	18.9831	0.92762	0.0:0.0:1.0:0.0	.	142	O95528	GTR10_HUMAN	S	142	ENSP00000352216:G142S	ENSP00000352216:G142S	G	+	1	0	SLC2A10	44787506	1.000000	0.71417	0.914000	0.36105	0.174000	0.22865	5.354000	0.66040	2.494000	0.84150	0.407000	0.27541	GGC		0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			6	143	0	0	0	1	0	6	143				
RPUSD1	113000	broad.mit.edu	37	16	837405	837405	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:837405G>A	ENST00000561734.1	-	2	498	c.255C>T	c.(253-255)agC>agT	p.S85S	RPUSD1_ENST00000565809.1_Silent_p.S85S|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000567114.1_5'UTR|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Silent_p.S85S			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	85					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ACCTGTACGCGCTGCCGGCGG	0.632																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(253-255)agC>agT		RNA pseudouridylate synthase domain containing 1							20.0	20.0	20.0					16																	837405		2172	4285	6457	SO:0001819	synonymous_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837405G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.255C>T	16.37:g.837405G>A						RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000007264.2_Silent_p.S85S|RPUSD1_ENST00000565809.1_Silent_p.S85S	p.S85S			Q9UJJ7	RUSD1_HUMAN			2	498	-		Hepatocellular(780;0.00335)	85					D3DU66	Silent	SNP	ENST00000561734.1	37	c.255C>T	CCDS10426.1																																																																																				0.632	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		2	3	0	0	0	1	0	2	3				
DEGS1	8560	broad.mit.edu	37	1	224377867	224377867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:224377867C>T	ENST00000323699.4	+	2	837	c.671C>T	c.(670-672)cCa>cTa	p.P224L	DEGS1_ENST00000391877.3_Missense_Mutation_p.P224L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	224					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTTTGCACCCAATTTCTGGA	0.373																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(670-672)cCa>cTa		delta(4)-desaturase, sphingolipid 1							125.0	124.0	125.0					1																	224377867		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377867C>T	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.671C>T	1.37:g.224377867C>T	ENSP00000316476:p.Pro224Leu					DEGS1_ENST00000391877.3_Missense_Mutation_p.P224L	p.P224L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	837	+	Breast(184;0.193)		224						Missense_Mutation	SNP	ENST00000323699.4	37	c.671C>T	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870185	0.91587	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.14893	2.47;2.47;2.47	5.8	5.8	0.92144	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74328	-0.3701	10	0.59425	D	0.04	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	224;203	O15121;E7EMA0	DEGS1_HUMAN;.	L	203;224;224	ENSP00000400545:P203L;ENSP00000316476:P224L;ENSP00000375749:P224L	ENSP00000316476:P224L	P	+	2	0	DEGS1	222444490	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.818000	0.86416	2.747000	0.94245	0.549000	0.68633	CCA		0.373	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			6	135	0	0	0	1	0	6	135				
CENPU	79682	broad.mit.edu	37	4	185650178	185650178	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:185650178T>C	ENST00000281453.5	-	3	178	c.108A>G	c.(106-108)caA>caG	p.Q36Q	MLF1IP_ENST00000541971.1_Silent_p.Q36Q	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTTGCACTTTTGACCAGCTT	0.373																																						ENST00000281453.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13						c.(106-108)caA>caG									82.0	84.0	84.0					4																	185650178		2203	4300	6503	SO:0001819	synonymous_variant	0				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185650178T>C																												ENST00000281453.5:c.108A>G	4.37:g.185650178T>C						MLF1IP_ENST00000541971.1_Silent_p.Q36Q	p.Q36Q	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	3	178	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	36						Silent	SNP	ENST00000281453.5	37	c.108A>G	CCDS3838.1																																																																																				0.373	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			6	44	0	0	0	1	0	6	44				
CCNB3	85417	broad.mit.edu	37	X	50051784	50051784	+	Silent	SNP	G	G	A	rs373752549		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:50051784G>A	ENST00000376042.1	+	6	913	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CCNB3_ENST00000276014.7_Silent_p.A205A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	205					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATGATGCGTTTGTTATAG	0.408																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(613-615)gcG>gcA		cyclin B3							63.0	58.0	60.0					X																	50051784		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051784G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.615G>A	X.37:g.50051784G>A						CCNB3_ENST00000276014.7_Silent_p.A205A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron	p.A205A			Q8WWL7	CCNB3_HUMAN			6	913	+	Ovarian(276;0.236)		205					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.615G>A	CCDS14331.1																																																																																				0.408	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			30	44	0	0	0	1	0	30	44				
ARHGAP11A	9824	broad.mit.edu	37	15	32929682	32929682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:32929682A>G	ENST00000361627.3	+	12	3430	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q714R|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q714R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	903					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCTAAAGAACAGAAGTCCATG	0.398																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2707-2709)cAg>cGg		Rho GTPase activating protein 11A							110.0	110.0	110.0					15																	32929682		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929682A>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2708A>G	15.37:g.32929682A>G	ENSP00000355090:p.Gln903Arg					ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q714R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q714R	p.Q903R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	3430	+		all_lung(180;1.3e-11)	903					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2708A>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	A	1.354	-0.590555	0.03799	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10763	2.84	5.14	1.48	0.22813	.	0.610036	0.15449	N	0.261744	T	0.12135	0.0295	M	0.73962	2.25	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36939	-0.9727	10	0.20519	T	0.43	.	7.276	0.26283	0.7373:0.1231:0.1396:0.0	.	903	Q6P4F7	RHGBA_HUMAN	R	903;714	ENSP00000355090:Q903R	ENSP00000355090:Q903R	Q	+	2	0	ARHGAP11A	30716974	0.018000	0.18449	0.128000	0.21923	0.101000	0.19017	0.361000	0.20267	-0.147000	0.11254	-1.431000	0.01090	CAG		0.398	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		39	49	0	0	0	1	0	39	49				
LRAT	9227	broad.mit.edu	37	4	155665633	155665633	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:155665633A>G	ENST00000336356.3	+	2	408	c.155A>G	c.(154-156)gAg>gGg	p.E52G	LRAT_ENST00000507827.1_Missense_Mutation_p.E52G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	52					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACGTGCTGGAGGTGCCCCGG	0.572																																						ENST00000336356.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16						c.(154-156)gAg>gGg		lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	Vitamin A(DB00162)						94.0	92.0	93.0					4																	155665633		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665633A>G	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.155A>G	4.37:g.155665633A>G	ENSP00000337224:p.Glu52Gly					LRAT_ENST00000507827.1_Missense_Mutation_p.E52G	p.E52G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN			2	408	+	all_hematologic(180;0.215)	Renal(120;0.0458)	52					A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.155A>G	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	A	35	5.451902	0.96223	.	.	ENSG00000121207	ENST00000502525;ENST00000507827;ENST00000336356	T;T;T	0.26373	1.74;1.74;1.74	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.82716	2.605	0.80722	D	1	D	0.60160	0.987	P	0.60541	0.876	T	0.59408	-0.7460	10	0.87932	D	0	-18.1609	14.9004	0.70675	1.0:0.0:0.0:0.0	.	52	O95237	LRAT_HUMAN	G	52	ENSP00000422324:E52G;ENSP00000426761:E52G;ENSP00000337224:E52G	ENSP00000337224:E52G	E	+	2	0	LRAT	155885083	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.124000	0.94394	2.093000	0.63338	0.533000	0.62120	GAG		0.572	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		4	103	0	0	0	1	0	4	103				
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557																																						ENST00000310164.2																			1	Substitution - Missense(1)	p.V71I(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(211-213)Gtc>Atc		zinc finger, CCHC domain containing 12							72.0	72.0	72.0					X																	117959418		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959418G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.211G>A	X.37:g.117959418G>A	ENSP00000308921:p.Val71Ile						p.V71I	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	718	+			71					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.211G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005467	0.19199	.	.	ENSG00000174460	ENST00000310164	T	0.09630	2.96	3.09	2.22	0.28083	.	0.295815	0.18444	N	0.141049	T	0.07052	0.0179	L	0.35854	1.095	0.23988	N	0.996251	B	0.18013	0.025	B	0.17979	0.02	T	0.39702	-0.9601	10	0.14656	T	0.56	-6.9045	5.1616	0.15064	0.1673:0.0:0.8327:0.0	.	71	Q6PEW1	ZCH12_HUMAN	I	71	ENSP00000308921:V71I	ENSP00000308921:V71I	V	+	1	0	ZCCHC12	117843446	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	1.020000	0.30027	0.687000	0.31509	0.594000	0.82650	GTC		0.557	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		56	32	0	0	0	1	0	56	32				
PRR23B	389151	broad.mit.edu	37	3	138738764	138738764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:138738764C>T	ENST00000329447.5	-	1	1004	c.740G>A	c.(739-741)cGc>cAc	p.R247H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	247	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCGGCGAGCGCGCGTGGGG	0.657																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(739-741)cGc>cAc		proline rich 23B							16.0	20.0	18.0					3																	138738764		2169	4232	6401	SO:0001583	missense	389151							g.chr3:138738764C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.740G>A	3.37:g.138738764C>T	ENSP00000328768:p.Arg247His					MRPS22_ENST00000495075.1_Intron	p.R247H	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	1004	-			247			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.740G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	9.488	1.099821	0.20552	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.63	-0.442	0.12253	.	0.953646	0.08641	N	0.915560	T	0.25791	0.0628	L	0.59436	1.845	0.09310	N	1	P	0.36874	0.572	B	0.26614	0.071	T	0.19679	-1.0298	9	0.49607	T	0.09	.	2.9755	0.05936	0.3744:0.4073:0.0:0.2184	.	247	Q6ZRT6	PR23B_HUMAN	H	247	.	ENSP00000328768:R247H	R	-	2	0	PRR23B	140221454	0.032000	0.19561	0.000000	0.03702	0.006000	0.05464	-0.270000	0.08584	-0.099000	0.12263	-0.126000	0.14955	CGC		0.657	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	18	0	0	0	1	0	6	18				
ZNF442	79973	broad.mit.edu	37	19	12461542	12461542	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:12461542G>T	ENST00000242804.4	-	6	1439	c.857C>A	c.(856-858)aCt>aAt	p.T286N	ZNF442_ENST00000438182.1_Missense_Mutation_p.T217N|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTCTTTCATG	0.413																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(856-858)aCt>aAt		zinc finger protein 442							145.0	142.0	143.0					19																	12461542		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461542G>T	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.857C>A	19.37:g.12461542G>T	ENSP00000242804:p.Thr286Asn					ZNF442_ENST00000438182.1_Missense_Mutation_p.T217N	p.T286N	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1439	-			286					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.857C>A	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048945	0.36181	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.41758	0.99;0.99	0.832	-0.417	0.12347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51363	0.1670	L	0.56280	1.765	0.29572	N	0.849793	D	0.61697	0.99	D	0.65573	0.936	T	0.49322	-0.8952	9	0.87932	D	0	.	6.4007	0.21636	0.0:0.3104:0.6895:0.0	.	286	Q9H7R0	ZN442_HUMAN	N	286;217	ENSP00000242804:T286N;ENSP00000388634:T217N	ENSP00000242804:T286N	T	-	2	0	ZNF442	12322542	0.000000	0.05858	0.129000	0.21949	0.260000	0.26232	-1.190000	0.03058	-0.093000	0.12396	0.313000	0.20887	ACT		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		10	131	1	0	7.03913e-09	1	7.58763e-09	10	131				
DSP	1832	broad.mit.edu	37	6	7583354	7583354	+	Silent	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:7583354C>A	ENST00000379802.3	+	24	6200	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T	DSP_ENST00000418664.2_Silent_p.T1354T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1953	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCGAGAGACCCAGACTGAGT	0.522																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5857-5859)acC>acA		desmoplakin							83.0	84.0	83.0					6																	7583354		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583354C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5859C>A	6.37:g.7583354C>A						DSP_ENST00000418664.2_Silent_p.T1354T	p.T1953T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6200	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1953			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.5859C>A	CCDS4501.1																																																																																				0.522	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		29	32	1	0	1.30897e-18	1	1.46817e-18	29	32				
ATG7	10533	broad.mit.edu	37	3	11600050	11600050	+	IGR	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:11600050A>G	ENST00000354449.3	+	0	4959				VGLL4_ENST00000404339.1_Missense_Mutation_p.S290P|VGLL4_ENST00000273038.3_Missense_Mutation_p.S285P|VGLL4_ENST00000430365.2_Missense_Mutation_p.S291P|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205P|VGLL4_ENST00000424529.2_Missense_Mutation_p.S201P|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226P	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ACAGAGGGGGAGTGACTGTGG	0.577																																						ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(853-855)Tcc>Ccc		vestigial like 4 (Drosophila)							42.0	48.0	46.0					3																	11600050		2203	4299	6502	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600050A>G	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600050A>G						VGLL4_ENST00000430365.2_Missense_Mutation_p.S291P|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205P|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226P|VGLL4_ENST00000404339.1_Missense_Mutation_p.S290P|VGLL4_ENST00000424529.2_Missense_Mutation_p.S201P	p.S285P	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1218	-			285					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.853T>C	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312592	0.60414	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.60548	0.24;0.27;0.18	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.997	T	0.76072	-0.3093	10	0.66056	D	0.02	-39.5652	14.7128	0.69247	1.0:0.0:0.0:0.0	.	291;205;201;290;285	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	P	285;226;205;201;291;290	ENSP00000273038:S285P;ENSP00000404251:S291P;ENSP00000384705:S290P	ENSP00000273038:S285P	S	-	1	0	VGLL4	11575050	1.000000	0.71417	0.986000	0.45419	0.538000	0.34931	5.074000	0.64401	1.881000	0.54492	0.460000	0.39030	TCC		0.577	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		3	73	0	0	0	1	0	3	73				
IGHV3-48	28424	broad.mit.edu	37	14	106994102	106994102	+	RNA	SNP	C	C	A	rs542582594		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:106994102C>A	ENST00000390624.2	-	0	141									immunoglobulin heavy variable 3-48																		CCACCAGCTGCACCTCACACT	0.517																																						ENST00000390624.2																			0																				99.0	97.0	98.0					14																	106994102		1878	4101	5979			0							g.chr14:106994102C>A	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106994102C>A														0	141	-									RNA	SNP	ENST00000390624.2	37																																																																																						0.517	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		33	138	1	0	1.67305e-13	1	1.85151e-13	33	138				
SAA2	6289	broad.mit.edu	37	11	18269491	18269491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:18269491G>A	ENST00000526900.1	-	2	251	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L|SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|RNA5SP333_ENST00000363466.1_RNA|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Missense_Mutation_p.S23L			P0DJI9	SAA2_HUMAN	serum amyloid A2	23					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAAGGAACGAAAAGAAGCT	0.498																																						ENST00000414546.2																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(67-69)tCg>tTg		serum amyloid A2							107.0	98.0	101.0					11																	18269491		2197	4291	6488	SO:0001583	missense	6289							g.chr11:18269491G>A	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.68C>T	11.37:g.18269491G>A	ENSP00000436126:p.Ser23Leu					SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L|SAA2_ENST00000526900.1_Missense_Mutation_p.S23L	p.S23L	NM_001127380.2	NP_001120852.1					2	112	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.68C>T	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744514	0.49151	.	.	ENSG00000134339	ENST00000414546;ENST00000530400;ENST00000528349;ENST00000256733;ENST00000529528;ENST00000526900	T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87	4.2	-1.76	0.08006	.	1.576540	0.04006	N	0.297329	T	0.14917	0.0360	.	.	.	0.09310	N	1	P;P	0.47604	0.876;0.898	P;P	0.49012	0.462;0.598	T	0.34453	-0.9828	9	0.56958	D	0.05	.	6.8607	0.24066	0.0:0.3125:0.257:0.4305	.	23;23	G3XAK9;E9PR14	.;.	L	23	ENSP00000416716:S23L;ENSP00000432370:S23L;ENSP00000435659:S23L;ENSP00000256733:S23L;ENSP00000437162:S23L;ENSP00000436126:S23L	ENSP00000256733:S23L	S	-	2	0	SAA2	18226067	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.047000	0.11963	-0.087000	0.12528	0.555000	0.69702	TCG		0.498	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		27	37	0	0	0	1	0	27	37				
PREX2	80243	broad.mit.edu	37	8	69005869	69005869	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:69005869C>A	ENST00000288368.4	+	21	2557	c.2280C>A	c.(2278-2280)agC>agA	p.S760R	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	760					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTATAATAGCATTGAGAGTG	0.423																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2278-2280)agC>agA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							111.0	111.0	111.0					8																	69005869		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69005869C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2280C>A	8.37:g.69005869C>A	ENSP00000288368:p.Ser760Arg					PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	p.S760R	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			21	2557	+			760					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2280C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110334	0.56398	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.38240	1.15	5.66	1.83	0.25207	.	0.098369	0.64402	D	0.000002	T	0.37156	0.0993	L	0.44542	1.39	0.40990	D	0.984845	P;B;P	0.39940	0.696;0.415;0.551	B;B;P	0.47206	0.358;0.258;0.541	T	0.25467	-1.0131	10	0.87932	D	0	.	10.0411	0.42158	0.0:0.7225:0.0:0.2775	.	760;760;760	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	R	760	ENSP00000288368:S760R	ENSP00000288368:S760R	S	+	3	2	PREX2	69168423	0.926000	0.31397	0.893000	0.35052	0.999000	0.98932	0.223000	0.17719	0.328000	0.23435	0.650000	0.86243	AGC		0.423	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		46	91	1	0	8.72198e-27	1	1.01961e-26	46	91				
TOP2B	7155	broad.mit.edu	37	3	25675377	25675377	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:25675377T>C	ENST00000264331.4	-	8	980	c.981A>G	c.(979-981)aaA>aaG	p.K327K	TOP2B_ENST00000435706.2_Silent_p.K322K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	327					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GCTGGAATCCTTTTTCACTCA	0.348																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(964-966)aaA>aaG		topoisomerase (DNA) II beta 180kDa							162.0	156.0	158.0					3																	25675377		1848	4087	5935	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25675377T>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.981A>G	3.37:g.25675377T>C						TOP2B_ENST00000264331.4_Silent_p.K327K	p.K322K			Q02880	TOP2B_HUMAN			8	1167	-			327					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.966A>G																																																																																					0.348	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				3	142	0	0	0	1	0	3	142				
DSG1	1828	broad.mit.edu	37	18	28934739	28934739	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:28934739A>G	ENST00000257192.4	+	15	2792	c.2580A>G	c.(2578-2580)tcA>tcG	p.S860S	DSG1_ENST00000462981.2_Silent_p.S219S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	860					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACCAGCATCAAACGTGGTAG	0.512																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2578-2580)tcA>tcG		desmoglein 1							183.0	159.0	167.0					18																	28934739		2203	4300	6503	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934739A>G	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2580A>G	18.37:g.28934739A>G						RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.S219S|RP11-534N16.1_ENST00000581452.1_RNA	p.S860S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2792	+			860					B7Z845	Silent	SNP	ENST00000257192.4	37	c.2580A>G	CCDS11896.1																																																																																				0.512	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		17	182	0	0	0	1	0	17	182				
HGF	3082	broad.mit.edu	37	7	81372731	81372731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:81372731C>T	ENST00000222390.5	-	7	1029	c.803G>A	c.(802-804)aGg>aAg	p.R268K	HGF_ENST00000444829.2_Missense_Mutation_p.R268K|HGF_ENST00000457544.2_Missense_Mutation_p.R263K|HGF_ENST00000453411.1_Missense_Mutation_p.R263K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	268	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACCATGGCCTCGGCTGGCC	0.473																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(802-804)aGg>aAg		hepatocyte growth factor (hepapoietin A; scatter factor)							101.0	91.0	94.0					7																	81372731		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81372731C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.803G>A	7.37:g.81372731C>T	ENSP00000222390:p.Arg268Lys					HGF_ENST00000453411.1_Missense_Mutation_p.R263K|HGF_ENST00000444829.2_Missense_Mutation_p.R268K|HGF_ENST00000457544.2_Missense_Mutation_p.R263K	p.R268K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			7	1029	-			268			Kringle 2.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.803G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413699	0.83449	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.75	5.75	0.90469	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.040458	0.85682	D	0.000000	T	0.62454	0.2429	L	0.56340	1.77	0.80722	D	1	B;P;P;P	0.46395	0.125;0.877;0.673;0.591	B;B;B;B	0.42214	0.117;0.296;0.38;0.361	T	0.61496	-0.7051	10	0.34782	T	0.22	.	19.9474	0.97186	0.0:1.0:0.0:0.0	.	263;268;263;268	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	K	268;263;268;263;268	ENSP00000222390:R268K;ENSP00000391238:R263K;ENSP00000389854:R268K;ENSP00000408270:R263K	ENSP00000222390:R268K	R	-	2	0	HGF	81210667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.724000	0.93272	0.655000	0.94253	AGG		0.473	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		46	41	0	0	0	1	0	46	41				
MED23	9439	broad.mit.edu	37	6	131917229	131917229	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:131917229A>G	ENST00000368068.3	-	22	3032	c.2853T>C	c.(2851-2853)taT>taC	p.Y951Y	MED23_ENST00000368060.3_Silent_p.Y951Y|MED23_ENST00000403834.3_Silent_p.Y957Y|MED23_ENST00000545957.1_Silent_p.Y592Y|MED23_ENST00000354577.4_Silent_p.Y957Y|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.Y957Y	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	951					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGATGGGCAGATAGGGAGACT	0.423																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2869-2871)taT>taC		mediator complex subunit 23							136.0	142.0	140.0					6																	131917229		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131917229A>G	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2853T>C	6.37:g.131917229A>G						MED23_ENST00000368068.3_Silent_p.Y951Y|MED23_ENST00000545957.1_Silent_p.Y592Y|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.Y957Y|MED23_ENST00000368060.3_Silent_p.Y951Y|MED23_ENST00000354577.4_Silent_p.Y957Y	p.Y957Y			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	22	3044	-	Breast(56;0.0753)		951					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.2871T>C	CCDS5147.1																																																																																				0.423	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			18	132	0	0	0	1	0	18	132				
FAM90A1	55138	broad.mit.edu	37	12	8376782	8376782	+	Silent	SNP	G	G	A	rs77163560		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:8376782G>A	ENST00000538603.1	-	5	711	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FAM90A1_ENST00000307435.6_Silent_p.G51G	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	51							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGCCGTGTGGCCAAAGGCCT	0.537																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(151-153)ggC>ggT		family with sequence similarity 90, member A1							43.0	50.0	48.0					12																	8376782		2203	4300	6503	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8376782G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.153C>T	12.37:g.8376782G>A						FAM90A1_ENST00000307435.6_Silent_p.G51G	p.G51G	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	5	711	-			51					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.153C>T	CCDS31738.1																																																																																				0.537	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		38	46	0	0	0	1	0	38	46				
CEP250	11190	broad.mit.edu	37	20	34091287	34091287	+	Missense_Mutation	SNP	G	G	A	rs142095721		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr20:34091287G>A	ENST00000397527.1	+	30	5810	c.5090G>A	c.(5089-5091)cGg>cAg	p.R1697Q	CEP250_ENST00000342580.4_Missense_Mutation_p.R1641Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1697	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGCGAGGCCGGGAGCTGACC	0.587																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5089-5091)cGg>cAg		centrosomal protein 250kDa		G	GLN/ARG	0,4406		0,0,2203	87.0	91.0	90.0		5090	-2.3	1.0	20	dbSNP_134	90	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CEP250	NM_007186.3	43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	1697/2443	34091287	4,13002	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091287G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5090G>A	20.37:g.34091287G>A	ENSP00000380661:p.Arg1697Gln					CEP250_ENST00000342580.4_Missense_Mutation_p.R1641Q	p.R1697Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5810	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1697			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5090G>A	CCDS13255.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.23	1.292735	0.23564	0.0	4.65E-4	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.40756	3.06;3.06;1.02	4.51	-2.31	0.06765	.	0.770342	0.11591	N	0.548689	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.16722	0.016	T	0.31971	-0.9924	10	0.09843	T	0.71	.	6.802	0.23756	0.5418:0.0:0.3383:0.1199	.	1697	Q9BV73	CP250_HUMAN	Q	1697;1641;185	ENSP00000380661:R1697Q;ENSP00000341541:R1641Q;ENSP00000395992:R185Q	ENSP00000341541:R1641Q	R	+	2	0	CEP250	33554701	0.000000	0.05858	0.987000	0.45799	0.965000	0.64279	-0.268000	0.08607	-0.310000	0.08766	0.455000	0.32223	CGG		0.587	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		3	110	0	0	0	1	0	3	110				
CSF2RA	1438	broad.mit.edu	37	X	1409322	1409322	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:1409322G>A	ENST00000381524.3	+	7	752	c.566G>A	c.(565-567)cGc>cAc	p.R189H	CSF2RA_ENST00000355805.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R56H|BX649553.4_ENST00000580687.1_RNA|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R189H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R189H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	189					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R189H(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAACGTCTCGCAATTACTTT	0.423																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			2	Substitution - Missense(2)	p.R189H(2)	central_nervous_system(2)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(565-567)cGc>cAc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	310.0	302.0	305.0		566,566,566,167,566,566,566,566,566	0.1	0.0	X	dbSNP_134	305	3,8589		0,3,4293	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	29,29,29,29,29,29,29,29,29	0,4,6495	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	189/401,189/435,189/411,56/268,189/401,189/401,189/378,189/334,189/234	1409322	4,12994	2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409322G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.566G>A	X.37:g.1409322G>A	ENSP00000370935:p.Arg189His					CSF2RA_ENST00000361536.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R56H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R189H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R189H	p.R189H			P15509	CSF2R_HUMAN			7	752	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	189					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.566G>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	1.741	-0.491600	0.04322	2.27E-4	3.49E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D	0.96011	-3.88;-3.88;-1.74;-1.74;-3.88;-1.74;-3.88;-1.74;-1.74;-3.88;-1.74	1.57	0.0825	0.14429	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	3.273120	0.01714	U	0.027870	D	0.88544	0.6465	.	.	.	0.09310	N	1	P;B;B;B;P;B	0.40083	0.702;0.368;0.318;0.196;0.515;0.314	B;B;B;B;B;B	0.31547	0.132;0.063;0.067;0.01;0.027;0.046	T	0.82673	-0.0341	9	0.26408	T	0.33	.	3.3431	0.07126	0.7021:0.0:0.2979:0.0	.	189;189;189;189;189;189	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	H	189;189;189;189;56;189;189;189;189;189;189;189	ENSP00000370940:R189H;ENSP00000416437:R189H;ENSP00000354836:R189H;ENSP00000440491:R56H;ENSP00000370935:R189H;ENSP00000410667:R189H;ENSP00000370920:R189H;ENSP00000348058:R189H;ENSP00000347606:R189H;ENSP00000394227:R189H;ENSP00000370911:R189H	ENSP00000347606:R189H	R	+	2	0	CSF2RA	1369322	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.011000	0.12721	-0.162000	0.10964	0.280000	0.19369	CGC		0.423	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			88	178	0	0	0	1	0	88	178				
ATXN3L	92552	broad.mit.edu	37	X	13337542	13337542	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:13337542T>C	ENST00000380622.2	-	1	976	c.512A>G	c.(511-513)gAc>gGc	p.D171G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	171	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTTCACAGTCTGGCAGATC	0.393																																						ENST00000380622.2																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(511-513)gAc>gGc		ataxin 3-like							72.0	65.0	67.0					X																	13337542		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337542T>C		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.512A>G	X.37:g.13337542T>C	ENSP00000369996:p.Asp171Gly					GS1-600G8.3_ENST00000431486.1_RNA	p.D171G	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	976	-			171			Josephin.		B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.512A>G	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874926	0.33069	.	.	ENSG00000123594	ENST00000380622	T	0.18810	2.19	0.652	0.652	0.17823	.	0.099257	0.64402	D	0.000001	T	0.13200	0.0320	L	0.34521	1.04	0.39763	D	0.972052	B	0.17038	0.02	B	0.16289	0.015	T	0.08411	-1.0723	10	0.72032	D	0.01	.	5.3595	0.16079	0.0:1.0E-4:0.0:0.9999	.	171	Q9H3M9	ATX3L_HUMAN	G	171	ENSP00000369996:D171G	ENSP00000369996:D171G	D	-	2	0	ATXN3L	13247463	1.000000	0.71417	0.945000	0.38365	0.380000	0.30137	4.621000	0.61233	0.479000	0.27511	0.341000	0.21757	GAC		0.393	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		30	49	0	0	0	1	0	30	49				
OR2T4	127074	broad.mit.edu	37	1	248525565	248525565	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:248525565A>T	ENST00000366475.1	+	1	683	c.683A>T	c.(682-684)gAg>gTg	p.E228V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTCTATGAGATTTTCATG	0.478																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(682-684)gAg>gTg		olfactory receptor, family 2, subfamily T, member 4							168.0	162.0	164.0					1																	248525565		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525565A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.683A>T	1.37:g.248525565A>T	ENSP00000355431:p.Glu228Val						p.E228V	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	683	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		228					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.683A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100645	0.37048	.	.	ENSG00000196944	ENST00000366475	T	0.00258	8.41	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000225	T	0.00496	0.0016	M	0.75264	2.295	0.30162	N	0.80207	D	0.63046	0.992	D	0.70227	0.968	T	0.32798	-0.9893	10	0.72032	D	0.01	.	11.9322	0.52853	1.0:0.0:0.0:0.0	.	228	Q8NH00	OR2T4_HUMAN	V	228	ENSP00000355431:E228V	ENSP00000355431:E228V	E	+	2	0	OR2T4	246592188	0.000000	0.05858	0.032000	0.17829	0.095000	0.18619	0.510000	0.22723	1.264000	0.44198	0.477000	0.44152	GAG		0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		57	167	0	0	0	1	0	57	167				
FAT2	2196	broad.mit.edu	37	5	150945298	150945298	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:150945298C>T	ENST00000261800.5	-	1	3207	c.3195G>A	c.(3193-3195)ggG>ggA	p.G1065G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1065	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGAGCTCCCCATCCAAGC	0.617																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3193-3195)ggG>ggA		FAT atypical cadherin 2							54.0	54.0	54.0					5																	150945298		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945298C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3195G>A	5.37:g.150945298C>T							p.G1065G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3207	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1065			Cadherin 9.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.3195G>A	CCDS4317.1																																																																																				0.617	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	54	0	0	0	1	0	3	54				
TAF1L	138474	broad.mit.edu	37	9	32632600	32632600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:32632600T>C	ENST00000242310.4	-	1	3067	c.2978A>G	c.(2977-2979)cAg>cGg	p.Q993R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	993					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCTTCTGCTGTGTTGGTTT	0.493																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2977-2979)cAg>cGg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							227.0	206.0	213.0					9																	32632600		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632600T>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2978A>G	9.37:g.32632600T>C	ENSP00000418379:p.Gln993Arg						p.Q993R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3067	-			993					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2978A>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039011	0.55003	.	.	ENSG00000122728	ENST00000242310	T	0.13538	2.58	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.168955	0.53938	D	0.000054	T	0.15869	0.0382	L	0.57536	1.79	0.48040	D	0.999571	P	0.37548	0.599	P	0.45167	0.472	T	0.03231	-1.1058	10	0.42905	T	0.14	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	993	Q8IZX4	TAF1L_HUMAN	R	993	ENSP00000418379:Q993R	ENSP00000418379:Q993R	Q	-	2	0	TAF1L	32622600	1.000000	0.71417	0.938000	0.37757	0.563000	0.35712	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	CAG		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			3	116	0	0	0	1	0	3	116				
UNC45B	146862	broad.mit.edu	37	17	33495136	33495136	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33495136C>T	ENST00000268876.5	+	10	1305	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000378449.1_Missense_Mutation_p.S403L|UNC45B_ENST00000394570.2_Missense_Mutation_p.S403L|UNC45B_ENST00000433649.1_Missense_Mutation_p.S403L|UNC45B_ENST00000591048.1_Missense_Mutation_p.S403L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	403					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGACAGTGTCAGGGATCCTG	0.547																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1207-1209)tCa>tTa		unc-45 homolog B (C. elegans)							93.0	78.0	83.0					17																	33495136		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495136C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1208C>T	17.37:g.33495136C>T	ENSP00000268876:p.Ser403Leu					UNC45B_ENST00000394570.2_Missense_Mutation_p.S403L|UNC45B_ENST00000378449.1_Missense_Mutation_p.S403L|UNC45B_ENST00000591048.1_Missense_Mutation_p.S403L|UNC45B_ENST00000433649.1_Missense_Mutation_p.S403L	p.S403L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1305	+		Ovarian(249;0.17)	403					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1208C>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125247	0.94429	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.119241	0.64402	D	0.000014	T	0.64305	0.2586	M	0.65498	2.005	0.34080	D	0.659444	D;D;D	0.89917	0.992;1.0;0.999	D;D;D	0.91635	0.94;0.999;0.986	T	0.73767	-0.3879	10	0.87932	D	0	-8.5675	17.8675	0.88800	0.0:1.0:0.0:0.0	.	403;403;403	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	L	403	ENSP00000378071:S403L;ENSP00000268876:S403L;ENSP00000412840:S403L;ENSP00000367710:S403L	ENSP00000268876:S403L	S	+	2	0	UNC45B	30519249	1.000000	0.71417	0.097000	0.21041	0.992000	0.81027	7.609000	0.82925	2.767000	0.95098	0.655000	0.94253	TCA		0.547	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		35	64	0	0	0	1	0	35	64				
ZBTB39	9880	broad.mit.edu	37	12	57398076	57398076	+	Missense_Mutation	SNP	G	G	A	rs201184273		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:57398076G>A	ENST00000300101.2	-	2	711	c.626C>T	c.(625-627)aCa>aTa	p.T209I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGGTCTTCTGTCTTTGGCGG	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20079	0.0		0.0	False		,,,				2504	0.0					ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(625-627)aCa>aTa		zinc finger and BTB domain containing 39							126.0	112.0	117.0					12																	57398076		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398076G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.626C>T	12.37:g.57398076G>A	ENSP00000300101:p.Thr209Ile						p.T209I	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	711	-			209					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.626C>T	CCDS31839.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.08	2.131038	0.37630	.	.	ENSG00000166860	ENST00000300101	T	0.08546	3.08	5.92	5.92	0.95590	.	0.445951	0.22954	N	0.053638	T	0.05547	0.0146	N	0.14661	0.345	0.39840	D	0.973097	B	0.34103	0.437	B	0.29440	0.102	T	0.46289	-0.9202	10	0.09843	T	0.71	-3.7522	17.8152	0.88630	0.0:0.0:1.0:0.0	.	209	O15060	ZBT39_HUMAN	I	209	ENSP00000300101:T209I	ENSP00000300101:T209I	T	-	2	0	ZBTB39	55684343	0.988000	0.35896	1.000000	0.80357	0.937000	0.57800	2.764000	0.47613	2.804000	0.96469	0.655000	0.94253	ACA		0.572	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		14	83	0	0	0	1	0	14	83				
POLR3A	11128	broad.mit.edu	37	10	79773462	79773462	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:79773462G>T	ENST00000372371.3	-	11	1655	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	506					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGATGAAGGTTCATTTCAT	0.478																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1516-1518)aaC>aaA		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							164.0	146.0	152.0					10																	79773462		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79773462G>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1518C>A	10.37:g.79773462G>T	ENSP00000361446:p.Asn506Lys					POLR3A_ENST00000484760.1_5'UTR	p.N506K	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		11	1655	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		506					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1518C>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894398	0.72639	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.81078	-1.45	5.69	1.68	0.24146	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	H	0.99752	4.75	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92087	0.5677	9	.	.	.	-36.4162	10.047	0.42192	0.2808:0.0:0.7192:0.0	.	506	O14802	RPC1_HUMAN	K	506	ENSP00000361446:N506K	.	N	-	3	2	POLR3A	79443468	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.761000	0.26489	0.047000	0.15862	0.650000	0.86243	AAC		0.478	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		45	71	1	0	2.43468e-25	1	2.80665e-25	45	71				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	12	0	0	0	1	0	4	12				
BFSP2	8419	broad.mit.edu	37	3	133191307	133191307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:133191307C>T	ENST00000302334.2	+	6	1231	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	381	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CGAGCGGAGGCGGAGCAGCAG	0.667																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1141-1143)gCg>gTg		beaded filament structural protein 2, phakinin							27.0	31.0	30.0					3																	133191307		2203	4299	6502	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133191307C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1142C>T	3.37:g.133191307C>T	ENSP00000304987:p.Ala381Val					BFSP2_ENST00000511434.1_3'UTR	p.A381V	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			6	1231	+			381			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.1142C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	c	11.55	1.672673	0.29693	.	.	ENSG00000170819	ENST00000302334	D	0.88354	-2.37	5.13	3.26	0.37387	Filament (1);	0.359124	0.23176	N	0.051078	T	0.77618	0.4157	L	0.28115	0.83	0.25845	N	0.984001	P	0.38711	0.643	B	0.24006	0.05	T	0.71434	-0.4594	10	0.62326	D	0.03	-9.5141	10.2353	0.43280	0.0:0.8339:0.0:0.1661	.	381	Q13515	BFSP2_HUMAN	V	381	ENSP00000304987:A381V	ENSP00000304987:A381V	A	+	2	0	BFSP2	134673997	0.995000	0.38212	0.867000	0.34043	0.234000	0.25298	2.947000	0.49058	1.095000	0.41419	0.556000	0.70494	GCG		0.667	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			16	25	0	0	0	1	0	16	25				
GLRA1	2741	broad.mit.edu	37	5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T	rs561848502		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:151239373C>T	ENST00000455880.2	-	4	735	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.R67Q|GLRA1_ENST00000274576.4_Missense_Mutation_p.R150Q			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	150					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.R150Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19631	0.001		0.0	False		,,,				2504	0.0					ENST00000274576.4																			1	Substitution - Missense(1)	p.R150Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(448-450)cGg>cAg		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						167.0	143.0	151.0					5																	151239373		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151239373C>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.449G>A	5.37:g.151239373C>T	ENSP00000411593:p.Arg150Gln					GLRA1_ENST00000455880.2_Missense_Mutation_p.R150Q|GLRA1_ENST00000545569.1_Missense_Mutation_p.R67Q|GLRA1_ENST00000471351.2_5'UTR	p.R150Q	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	741	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	150					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.449G>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055686	0.55325	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.77358	-1.09;-1.09;-1.09	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051373	0.85682	D	0.000000	T	0.66499	0.2795	N	0.21448	0.665	0.37418	D	0.913535	P;P;P	0.45240	0.854;0.683;0.701	B;B;B	0.43658	0.426;0.212;0.3	T	0.69363	-0.5165	10	0.34782	T	0.22	.	10.2814	0.43541	0.0:0.8533:0.0:0.1467	.	150;67;150	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	Q	150;150;67	ENSP00000274576:R150Q;ENSP00000411593:R150Q;ENSP00000445913:R67Q	ENSP00000274576:R150Q	R	-	2	0	GLRA1	151219566	0.996000	0.38824	0.988000	0.46212	0.994000	0.84299	2.991000	0.49409	2.746000	0.94184	0.655000	0.94253	CGG		0.522	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			21	38	0	0	0	1	0	21	38				
CASK	8573	broad.mit.edu	37	X	41393959	41393959	+	Splice_Site	SNP	G	G	T	rs398123811		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:41393959G>T	ENST00000378163.1	-	24	2791	c.2317C>A	c.(2317-2319)Cat>Aat	p.H773N	CASK_ENST00000378158.1_Splice_Site_p.H756N|CASK_ENST00000361962.4_Splice_Site_p.H756N|CASK_ENST00000421587.2_Splice_Site_p.H744N|CASK_ENST00000442742.2_Splice_Site_p.H745N|CASK_ENST00000318588.9_Splice_Site_p.H768N|CASK_ENST00000378166.4_Splice_Site_p.H768N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	773	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGCTTACGTGGAATAGGG	0.338																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.e24+1		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							262.0	210.0	228.0					X																	41393959		2203	4300	6503	SO:0001630	splice_region_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41393959G>T	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2317+1C>A	X.37:g.41393959G>T						CASK_ENST00000378158.1_Splice_Site_p.H756_splice|CASK_ENST00000378163.1_Splice_Site_p.H773_splice|CASK_ENST00000378166.4_Splice_Site_p.H768_splice|CASK_ENST00000361962.4_Splice_Site_p.H756_splice|CASK_ENST00000442742.2_Splice_Site_p.H745_splice|CASK_ENST00000421587.2_Splice_Site_p.H744_splice	p.H768_splice			O14936	CSKP_HUMAN			24	2347	-			773			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Splice_Site	SNP	ENST00000378163.1	37	c.2302_splice		.	.	.	.	.	.	.	.	.	.	G	22.1	4.243066	0.79912	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.34	5.34	0.76211	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.52532	D	0.000067	T	0.57184	0.2036	M	0.91354	3.2	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.809;1.0;1.0;0.998	D;P;D;D;D	0.87578	0.994;0.871;0.995;0.998;0.979	T	0.67848	-0.5564	9	.	.	.	.	18.1637	0.89718	0.0:0.0:1.0:0.0	.	744;745;768;773;365	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	N	744;768;756;773;365;228;756;768;745	ENSP00000400526:H744N;ENSP00000322727:H768N;ENSP00000354641:H756N;ENSP00000367405:H773N;ENSP00000367421:H365N;ENSP00000367410:H228N;ENSP00000367400:H756N;ENSP00000367408:H768N;ENSP00000398007:H745N	.	H	-	1	0	CASK	41278903	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.226000	0.72624	0.436000	0.28706	CAT		0.338	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	Missense_Mutation	40	51	1	0	4.44401e-20	1	5.05278e-20	40	51				
NLRP14	338323	broad.mit.edu	37	11	7081199	7081199	+	Missense_Mutation	SNP	C	C	T	rs376413939		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:7081199C>T	ENST00000299481.4	+	9	3054	c.2708C>T	c.(2707-2709)aCg>aTg	p.T903M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	903					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGCCTGACGCATCTGGAT	0.453																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2707-2709)aCg>aTg		NLR family, pyrin domain containing 14		C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	177.0	165.0	169.0		2708	-9.0	0.0	11		169	0,8592		0,0,4296	no	missense	NLRP14	NM_176822.3	81	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	903/1094	7081199	1,12993	2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081199C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2708C>T	11.37:g.7081199C>T	ENSP00000299481:p.Thr903Met						p.T903M	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3054	+			903					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2708C>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097521	0.37048	2.27E-4	0.0	ENSG00000158077	ENST00000299481	T	0.55413	0.52	4.5	-9.01	0.00744	.	2.199350	0.02022	N	0.047844	T	0.33818	0.0876	L	0.43701	1.375	0.09310	N	1	P	0.36110	0.537	B	0.27262	0.078	T	0.28522	-1.0041	10	0.44086	T	0.13	.	3.6201	0.08092	0.1038:0.1612:0.2055:0.5295	.	903	Q86W24	NAL14_HUMAN	M	903	ENSP00000299481:T903M	ENSP00000299481:T903M	T	+	2	0	NLRP14	7037775	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-4.077000	0.00300	-2.573000	0.00466	-0.150000	0.13652	ACG		0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		14	151	0	0	0	1	0	14	151				
MAPK8IP3	23162	broad.mit.edu	37	16	1797211	1797211	+	Missense_Mutation	SNP	G	G	T	rs373340475		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:1797211G>T	ENST00000250894.4	+	6	1083	c.926G>T	c.(925-927)cGg>cTg	p.R309L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R309L|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	309					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGCGTGCCCGGGAGAAGCGC	0.662																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(925-927)cGg>cTg		mitogen-activated protein kinase 8 interacting protein 3							36.0	49.0	45.0					16																	1797211		2131	4220	6351	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1797211G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.926G>T	16.37:g.1797211G>T	ENSP00000250894:p.Arg309Leu					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R309L|MAPK8IP3_ENST00000568271.1_3'UTR	p.R309L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			6	1083	+			309					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.926G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253144	0.59212	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.30981	1.51;1.51	5.43	5.43	0.79202	.	0.186187	0.46758	D	0.000262	T	0.26593	0.0650	N	0.22421	0.69	0.80722	D	1	B;B;B	0.30686	0.29;0.271;0.271	B;B;B	0.35039	0.115;0.089;0.194	T	0.04178	-1.0971	10	0.26408	T	0.33	-33.2682	18.8441	0.92198	0.0:0.0:1.0:0.0	.	310;309;309	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	309	ENSP00000250894:R309L;ENSP00000348290:R309L	ENSP00000250894:R309L	R	+	2	0	MAPK8IP3	1737212	1.000000	0.71417	0.995000	0.50966	0.816000	0.46133	7.244000	0.78228	2.560000	0.86352	0.549000	0.68633	CGG		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		24	39	1	0	1.42536e-11	1	1.55664e-11	24	39				
PLXND1	23129	broad.mit.edu	37	3	129290353	129290353	+	Splice_Site	SNP	G	G	A	rs146029556		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:129290353G>A	ENST00000324093.4	-	17	3513	c.3335C>T	c.(3334-3336)aCg>aTg	p.T1112M	PLXND1_ENST00000393239.1_Splice_Site_p.T1112M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1112	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGCCTCACCGTGGGCTCCCG	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.e17+1		plexin D1		G	MET/THR	0,4406		0,0,2203	39.0	41.0	41.0		3335	4.5	1.0	3	dbSNP_134	41	1,8599		0,1,4299	yes	missense-near-splice	PLXND1	NM_015103.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1112/1926	129290353	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290353G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3336+1C>T	3.37:g.129290353G>A						PLXND1_ENST00000324093.4_Splice_Site_p.T1112_splice	p.T1112_splice			Q9Y4D7	PLXD1_HUMAN			17	3513	-			1112			IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	ENST00000324093.4	37	c.3336_splice	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659864	0.47572	0.0	1.16E-4	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.78481	-1.18;-1.18	4.48	4.48	0.54585	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.194395	0.31989	N	0.006753	T	0.70343	0.3213	M	0.64170	1.965	0.52099	D	0.999943	P	0.45240	0.854	B	0.35114	0.196	T	0.74469	-0.3655	10	0.52906	T	0.07	.	10.7979	0.46472	0.0876:0.0:0.9124:0.0	.	1112	Q9Y4D7	PLXD1_HUMAN	M	1112	ENSP00000317128:T1112M;ENSP00000376931:T1112M	ENSP00000317128:T1112M	T	-	2	0	PLXND1	130773043	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.503000	0.60407	2.061000	0.61500	0.313000	0.20887	ACG		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Missense_Mutation	23	35	0	0	0	1	0	23	35				
MGAT4C	25834	broad.mit.edu	37	12	86373329	86373329	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:86373329A>T	ENST00000604798.1	-	8	2379	c.1175T>A	c.(1174-1176)aTt>aAt	p.I392N	MGAT4C_ENST00000393205.2_Missense_Mutation_p.I421N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.I392N			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	392					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTACtttaattttttttat	0.353																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1174-1176)aTt>aAt		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							30.0	32.0	31.0					12																	86373329		2202	4297	6499	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373329A>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1175T>A	12.37:g.86373329A>T	ENSP00000474896:p.Ile392Asn					MGAT4C_ENST00000552808.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000393205.2_Missense_Mutation_p.I421N|MGAT4C_ENST00000549405.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.I392N	p.I392N			Q9UBM8	MGT4C_HUMAN			8	2379	-			392					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1175T>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834580	0.71373	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.53423	1.25;1.23;1.25;1.25;1.25;0.62	5.76	5.76	0.90799	.	0.054916	0.64402	D	0.000002	T	0.69548	0.3123	M	0.79475	2.455	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	T	0.73968	-0.3815	10	0.87932	D	0	-20.3071	16.0668	0.80887	1.0:0.0:0.0:0.0	.	421;392	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	N	392;421;392;392;392;392;392	ENSP00000331664:I392N;ENSP00000376900:I421N;ENSP00000449022:I392N;ENSP00000446647:I392N;ENSP00000447253:I392N;ENSP00000449172:I392N	ENSP00000331664:I392N	I	-	2	0	MGAT4C	84897460	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.335000	0.96500	2.191000	0.70037	0.477000	0.44152	ATT		0.353	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		6	24	0	0	0	1	0	6	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	50	0	0	0	1	0	42	50				
D2HGDH	728294	broad.mit.edu	37	2	242707146	242707146	+	Missense_Mutation	SNP	A	A	G	rs149519095		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:242707146A>G	ENST00000321264.4	+	10	1537	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.N309S	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	443					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGCACCTCAATGTGACGGCG	0.697																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1327-1329)aAt>aGt		D-2-hydroxyglutarate dehydrogenase							46.0	54.0	51.0					2																	242707146		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242707146A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1328A>G	2.37:g.242707146A>G	ENSP00000315351:p.Asn443Ser					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.N309S	p.N443S	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	10	1537	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	443					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1328A>G	CCDS33426.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	A|A	17.20|17.20	3.329536|3.329536	0.60743|0.60743	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000445308|ENST00000321264;ENST00000403782;ENST00000542211	.|D;D	.|0.84370	.|-1.84;-1.84	4.45|4.45	4.45|4.45	0.53987|0.53987	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92766|0.92766	0.7700|0.7700	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70016	.|0.967	D|D	0.94049|0.94049	0.7316|0.7316	5|10	.|0.87932	.|D	.|0	-0.0613|-0.0613	13.7258|13.7258	0.62756|0.62756	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|443	.|Q8N465	.|D2HDH_HUMAN	V|S	242|443;309;63	.|ENSP00000315351:N443S;ENSP00000384723:N309S	.|ENSP00000315351:N443S	M|N	+|+	1|2	0|0	D2HGDH|D2HGDH	242355819|242355819	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.306000|0.306000	0.27790|0.27790	8.368000|8.368000	0.90115|0.90115	1.640000|1.640000	0.50565|0.50565	0.375000|0.375000	0.23000|0.23000	ATG|AAT		0.697	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		35	51	0	0	0	1	0	35	51				
C16orf86	388284	broad.mit.edu	37	16	67701892	67701892	+	Silent	SNP	A	A	G	rs372390098		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:67701892A>G	ENST00000403458.4	+	3	599	c.444A>G	c.(442-444)ccA>ccG	p.P148P	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	148										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGCCCTCACCATCTGCCAAAC	0.607											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000403458.4																			0				endometrium(2)|lung(4)	6						c.(442-444)ccA>ccG		chromosome 16 open reading frame 86		A		0,4396		0,0,2198	85.0	74.0	78.0		444	-2.2	0.1	16		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C16orf86	NM_001012984.2		0,1,6497	GG,GA,AA		0.0116,0.0,0.0077		148/318	67701892	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	388284							g.chr16:67701892A>G		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.444A>G	16.37:g.67701892A>G			OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1101	C16orf86_ENST00000602974.1_3'UTR	p.P148P	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	599	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	148					B5MCW6	Silent	SNP	ENST00000403458.4	37	c.444A>G	CCDS32468.2																																																																																				0.607	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		5	29	0	0	0	1	0	5	29				
LIG3	3980	broad.mit.edu	37	17	33328319	33328319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33328319C>T	ENST00000378526.4	+	17	2508	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	LIG3_ENST00000262327.5_Missense_Mutation_p.S792L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	792					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCTCCAAATCGGAGGCTCAT	0.532								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(2374-2376)tCg>tTg	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						81.0	74.0	77.0					17																	33328319		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33328319C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2375C>T	17.37:g.33328319C>T	ENSP00000367787:p.Ser792Leu					LIG3_ENST00000262327.5_Missense_Mutation_p.S792L	p.S792L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			17	2508	+		Ovarian(249;0.17)	792					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.2375C>T	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597488	0.87055	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.69926	-0.44;-0.44	5.97	5.97	0.96955	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.214129	0.49305	D	0.000149	T	0.79592	0.4472	H	0.94423	3.535	0.58432	D	0.999992	B;P	0.44946	0.409;0.846	B;B	0.42188	0.159;0.379	D	0.85367	0.1111	10	0.87932	D	0	-12.5807	19.4162	0.94700	0.0:1.0:0.0:0.0	.	792;792	P49916;E5KLB6	DNLI3_HUMAN;.	L	792	ENSP00000367787:S792L;ENSP00000262327:S792L	ENSP00000262327:S792L	S	+	2	0	LIG3	30352432	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.298000	0.78815	2.837000	0.97791	0.655000	0.94253	TCG		0.532	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		20	32	0	0	0	1	0	20	32				
SLC37A3	84255	broad.mit.edu	37	7	140055533	140055533	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:140055533A>G	ENST00000326232.9	-	7	756	c.553T>C	c.(553-555)Tgt>Cgt	p.C185R	SLC37A3_ENST00000461089.1_5'Flank|SLC37A3_ENST00000447932.2_Missense_Mutation_p.C185R|SLC37A3_ENST00000340308.3_Missense_Mutation_p.C185R|SLC37A3_ENST00000429996.2_Missense_Mutation_p.L136P	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	185					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ACCGAAGCACAGGCACTCCAG	0.473																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.(553-555)Tgt>Cgt		solute carrier family 37, member 3							174.0	138.0	150.0					7																	140055533		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140055533A>G	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.553T>C	7.37:g.140055533A>G	ENSP00000321498:p.Cys185Arg					SLC37A3_ENST00000429996.2_Missense_Mutation_p.L136P|SLC37A3_ENST00000340308.3_Missense_Mutation_p.C185R|SLC37A3_ENST00000447932.2_Missense_Mutation_p.C185R	p.C185R	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN			7	756	-	Melanoma(164;0.0142)		185					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.553T>C	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.29|13.29	2.193149|2.193149	0.38707|0.38707	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000539816|ENST00000429996	T;T;T|T	0.58060|0.48836	0.36;0.36;0.36|0.8	5.43|5.43	3.02|3.02	0.34903|0.34903	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61590|0.61590	0.2359|0.2359	M|M	0.84846|0.84846	2.72|2.72	0.52099|0.52099	D|D	0.999944|0.999944	D;D;D;D;D|.	0.76494|.	0.999;0.998;0.998;0.999;0.996|.	D;D;D;D;D|.	0.79108|.	0.992;0.979;0.981;0.991;0.978|.	T|T	0.60616|0.60616	-0.7228|-0.7228	10|7	0.42905|0.62326	T|D	0.14|0.03	-22.251|-22.251	7.3423|7.3423	0.26644|0.26644	0.801:0.0:0.0702:0.1287|0.801:0.0:0.0702:0.1287	.|.	157;185;185;185;185|.	B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;.;.;SPX3_HUMAN|.	R|P	185|136	ENSP00000343358:C185R;ENSP00000397481:C185R;ENSP00000321498:C185R|ENSP00000412208:L136P	ENSP00000321498:C185R|ENSP00000412208:L136P	C|L	-|-	1|2	0|0	SLC37A3|SLC37A3	139702002|139702002	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.104000|0.104000	0.19210|0.19210	9.153000|9.153000	0.94687|0.94687	0.349000|0.349000	0.23975|0.23975	-0.357000|-0.357000	0.07601|0.07601	TGT|CTG		0.473	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		3	82	0	0	0	1	0	3	82				
ZNF208	7757	broad.mit.edu	37	19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:22155320C>T	ENST00000397126.4	-	4	2664	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	839					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2515-2517)gGc>gAc		zinc finger protein 208							51.0	57.0	55.0					19																	22155320		2095	4248	6343	SO:0001583	missense	7757							g.chr19:22155320C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2516G>A	19.37:g.22155320C>T	ENSP00000380315:p.Gly839Asp					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.G839D	NM_007153.3	NP_009084.2					4	2664	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2516G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257522	0.39896	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07021	3.23	2.51	-2.94	0.05581	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17450	0.0419	.	.	.	0.27866	N	0.940213	D	0.89917	1.0	D	0.80764	0.994	T	0.07009	-1.0795	8	0.48119	T	0.1	.	2.8928	0.05681	0.1774:0.5352:0.1733:0.1142	.	739	O43345	ZN208_HUMAN	D	839;739	ENSP00000380315:G839D	ENSP00000380315:G839D	G	-	2	0	ZNF208	21947160	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.247000	0.18179	-1.516000	0.01782	0.121000	0.15741	GGC		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		28	21	0	0	0	1	0	28	21				
ANKRD20A5P	440482	broad.mit.edu	37	18	14179433	14179433	+	RNA	SNP	G	G	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:14179433G>C	ENST00000581935.1	+	0	338							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						GGGCCAGACGGTCCTGGGCTC	0.602																																						ENST00000581935.1																			0				lung(3)	3																																														0							g.chr18:14179433G>C	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179433G>C														0	338	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.602	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			4	11	0	0	0	1	0	4	11				
TNRC6C	57690	broad.mit.edu	37	17	76094488	76094488	+	Silent	SNP	G	G	T	rs200772794		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:76094488G>T	ENST00000588061.1	+	19	5098	c.4371G>T	c.(4369-4371)ctG>ctT	p.L1457L	TNRC6C_ENST00000588847.1_Silent_p.L1493L|TNRC6C_ENST00000301624.4_Silent_p.L1457L|TNRC6C_ENST00000544502.1_Silent_p.L1493L|TNRC6C_ENST00000541771.1_Silent_p.L1457L|TNRC6C_ENST00000335749.4_Silent_p.L1493L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1457	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCTCTCTGTCTCATGAAC	0.557																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4477-4479)ctG>ctT		trinucleotide repeat containing 6C							63.0	68.0	66.0					17																	76094488		2018	4188	6206	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76094488G>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4371G>T	17.37:g.76094488G>T						TNRC6C_ENST00000588847.1_Silent_p.L1493L|TNRC6C_ENST00000301624.4_Silent_p.L1457L|TNRC6C_ENST00000544502.1_Silent_p.L1493L|TNRC6C_ENST00000588061.1_Silent_p.L1457L|TNRC6C_ENST00000541771.1_Silent_p.L1457L	p.L1493L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		18	5048	+			1457			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.4479G>T	CCDS45798.1																																																																																				0.557	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		17	17	1	0	8.34094e-07	1	8.87561e-07	17	17				
CHRNB3	1142	broad.mit.edu	37	8	42587448	42587448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:42587448C>T	ENST00000289957.2	+	5	1126	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	333					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CCCATGGCCCCCTGGGTTAAG	0.458																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(997-999)cCc>cTc		cholinergic receptor, nicotinic, beta 3 (neuronal)							222.0	195.0	204.0					8																	42587448		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587448C>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.998C>T	8.37:g.42587448C>T	ENSP00000289957:p.Pro333Leu						p.P333L	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1126	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	333					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.998C>T	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.328934	0.81690	.	.	ENSG00000147432	ENST00000289957	D	0.85556	-2.0	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049446	0.85682	D	0.000000	D	0.92557	0.7636	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92896	0.6335	10	0.66056	D	0.02	.	14.8771	0.70501	0.1772:0.8228:0.0:0.0	.	333	Q05901	ACHB3_HUMAN	L	333	ENSP00000289957:P333L	ENSP00000289957:P333L	P	+	2	0	CHRNB3	42706605	0.184000	0.23200	1.000000	0.80357	0.902000	0.53008	2.153000	0.42282	2.778000	0.95560	0.650000	0.86243	CCC		0.458	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			7	175	0	0	0	1	0	7	175				
MUC2	4583	broad.mit.edu	37	11	1101611	1101611	+	Missense_Mutation	SNP	G	G	A	rs267602687		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:1101611G>A	ENST00000441003.2	+	42	7651	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4904					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTGGGATTCGAAGTGAAGAG	0.642																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7624-7626)Gaa>Aaa		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						107.0	119.0	115.0					11																	1101611		2088	4220	6308	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1101611G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7624G>A	11.37:g.1101611G>A	ENSP00000415183:p.Glu2542Lys						p.E2542K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	42	7651	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4904					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.7624G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.716329	0.30413	.	.	ENSG00000198788	ENST00000441003	T	0.13420	2.59	3.3	2.35	0.29111	.	.	.	.	.	T	0.17662	0.0424	L	0.47078	1.49	0.21445	N	0.999683	D	0.61080	0.989	P	0.49683	0.619	T	0.13548	-1.0505	9	0.25751	T	0.34	.	11.5477	0.50702	0.0:0.1832:0.8168:0.0	.	2542	E7EUV1	.	K	2542	ENSP00000415183:E2542K	ENSP00000415183:E2542K	E	+	1	0	MUC2	1091611	0.718000	0.27976	0.013000	0.15412	0.104000	0.19210	1.768000	0.38511	0.473000	0.27368	0.491000	0.48974	GAA		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		72	74	0	0	0	1	0	72	74				
SERPINB2	5055	broad.mit.edu	37	18	61570518	61570518	+	Silent	SNP	C	C	T	rs371265633		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:61570518C>T	ENST00000299502.4	+	8	1307	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_ENST00000457692.1_Silent_p.F409F	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	409					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(1225-1227)ttC>ttT		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	T	,	0,4406		0,0,2203	60.0	69.0	66.0		1227,1227	-4.4	0.4	18		66	2,8598	817.5+/-406.9	0,2,4298	no	coding-synonymous,coding-synonymous	SERPINB2	NM_001143818.1,NM_002575.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	409/416,409/416	61570518	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61570518C>T	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.1227C>T	18.37:g.61570518C>T						SERPINB2_ENST00000299502.4_Silent_p.F409F	p.F409F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			9	1560	+		Esophageal squamous(42;0.131)	409					Q96E96	Silent	SNP	ENST00000299502.4	37	c.1227C>T	CCDS11989.1																																																																																				0.388	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		34	42	0	0	0	1	0	34	42				
MUC17	140453	broad.mit.edu	37	7	100681273	100681273	+	Silent	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:100681273G>T	ENST00000306151.4	+	3	6640	c.6576G>T	c.(6574-6576)gtG>gtT	p.V2192V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2192	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)					GCACACCTGTGACCAATTCTA	0.488																																						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.(6574-6576)gtG>gtT		mucin 17, cell surface associated							279.0	282.0	281.0					7																	100681273		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681273G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6576G>T	7.37:g.100681273G>T							p.V2192V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6640	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2192			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6576G>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	553	1	0	0.0809354	1	0.0829338	9	553				
TMEM71	137835	broad.mit.edu	37	8	133764099	133764099	+	Silent	SNP	G	G	A	rs183699304	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:133764099G>A	ENST00000356838.3	-	4	388	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C82C|TMEM71_ENST00000523829.1_Silent_p.C82C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	82						integral component of membrane (GO:0016021)		p.C82C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468																																						ENST00000356838.3																			1	Substitution - coding silent(1)	p.C82C(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(244-246)tgC>tgT		transmembrane protein 71							176.0	158.0	164.0					8																	133764099		2203	4300	6503	SO:0001819	synonymous_variant	137835					integral to membrane		g.chr8:133764099G>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.246C>T	8.37:g.133764099G>A						TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C82C|TMEM71_ENST00000523829.1_Silent_p.C82C	p.C82C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	388	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		82					Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000356838.3	37	c.246C>T	CCDS6366.1																																																																																				0.468	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		65	94	0	0	0	1	0	65	94				
NDST1	3340	broad.mit.edu	37	5	149927941	149927941	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:149927941C>T	ENST00000261797.6	+	12	2809	c.2307C>T	c.(2305-2307)caC>caT	p.H769H	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	769	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCTATCACGCCAACCAGG	0.627																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2305-2307)caC>caT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							58.0	43.0	48.0					5																	149927941		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149927941C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.2307C>T	5.37:g.149927941C>T						NDST1_ENST00000523767.1_Intron	p.H769H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	2809	+		all_hematologic(541;0.224)	769			Heparan sulfate N-sulfotransferase 1.		Q96E57	Silent	SNP	ENST00000261797.6	37	c.2307C>T	CCDS34277.1																																																																																				0.627	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		18	32	0	0	0	1	0	18	32				
FANK1	92565	broad.mit.edu	37	10	127668874	127668874	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:127668874A>G	ENST00000368693.1	+	2	262	c.158A>G	c.(157-159)gAc>gGc	p.D53G	FANK1_ENST00000449042.2_Missense_Mutation_p.D47G|FANK1_ENST00000368695.1_Missense_Mutation_p.D47G|FANK1_ENST00000368689.1_Missense_Mutation_p.D47G			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	53	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAGAAGAAGACCCCAAAATG	0.428																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(139-141)gAc>gGc		fibronectin type III and ankyrin repeat domains 1							110.0	107.0	108.0					10																	127668874		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127668874A>G	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.158A>G	10.37:g.127668874A>G	ENSP00000357682:p.Asp53Gly					FANK1_ENST00000449042.2_Missense_Mutation_p.D47G|FANK1_ENST00000368689.1_Missense_Mutation_p.D47G|FANK1_ENST00000368693.1_Missense_Mutation_p.D53G	p.D47G	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			2	262	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	53			Fibronectin type-III.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.140A>G	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182573	0.78677	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.01	5.01	0.66863	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.069913	0.56097	D	0.000036	T	0.53142	0.1778	M	0.70275	2.135	0.40770	D	0.983081	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	D;D;D;D	0.91635	0.99;0.999;0.998;0.999	T	0.54105	-0.8343	10	0.36615	T	0.2	-39.664	13.7354	0.62815	1.0:0.0:0.0:0.0	.	47;53;53;53	B7Z939;Q8TC84-3;Q8TC84-2;Q8TC84	.;.;.;FANK1_HUMAN	G	47;53;47;47;47;47;47;53	ENSP00000357684:D47G;ENSP00000357682:D53G;ENSP00000411388:D47G;ENSP00000396356:D47G;ENSP00000415719:D47G;ENSP00000357680:D47G;ENSP00000357678:D47G	ENSP00000357678:D47G	D	+	2	0	FANK1	127658864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.739000	0.68622	1.877000	0.54381	0.460000	0.39030	GAC		0.428	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		30	30	0	0	0	1	0	30	30				
SEC14L1	6397	broad.mit.edu	37	17	75208130	75208130	+	Silent	SNP	G	G	A	rs202169419		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:75208130G>A	ENST00000413679.2	+	15	2013	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SEC14L1_ENST00000591437.1_Silent_p.S536S|SEC14L1_ENST00000443798.4_Silent_p.S570S|SEC14L1_ENST00000436233.4_Silent_p.S570S|SEC14L1_ENST00000431431.2_Silent_p.S536S|SEC14L1_ENST00000585618.1_Silent_p.S570S|SEC14L1_ENST00000430767.4_Silent_p.S570S|SEC14L1_ENST00000392476.2_Silent_p.S570S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	570	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAAGAGGTCGCCACAACCAC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19693	0.0		0.001	False		,,,				2504	0.0					ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1708-1710)tcG>tcA		SEC14-like 1 (S. cerevisiae)							187.0	199.0	195.0					17																	75208130		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208130G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1710G>A	17.37:g.75208130G>A						SEC14L1_ENST00000430767.4_Silent_p.S570S|SEC14L1_ENST00000443798.4_Silent_p.S570S|SEC14L1_ENST00000392476.2_Silent_p.S570S|SEC14L1_ENST00000431431.2_Silent_p.S536S|SEC14L1_ENST00000585618.1_Silent_p.S570S|SEC14L1_ENST00000591437.1_Silent_p.S536S|SEC14L1_ENST00000436233.4_Silent_p.S570S	p.S570S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			15	2013	+			570			GOLD.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1710G>A	CCDS11752.1																																																																																				0.527	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		125	195	0	0	0	1	0	125	195				
TANC1	85461	broad.mit.edu	37	2	160053205	160053205	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:160053205T>C	ENST00000263635.6	+	18	3303	c.3066T>C	c.(3064-3066)acT>acC	p.T1022T	TANC1_ENST00000454300.1_Silent_p.T916T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1022					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGCTGACTTGTGAGTGGT	0.667																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3064-3066)acT>acC		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							53.0	58.0	56.0					2																	160053205		2095	4210	6305	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160053205T>C	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3066T>C	2.37:g.160053205T>C						TANC1_ENST00000454300.1_Silent_p.T916T	p.T1022T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			18	3303	+			1022					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.3066T>C	CCDS42766.1																																																																																				0.667	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			55	65	0	0	0	1	0	55	65				
TMEM132D	121256	broad.mit.edu	37	12	130185196	130185196	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGGTGGGCAGCAAGGAAAAC	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(127-129)Ctg>Ttg		transmembrane protein 132D							117.0	80.0	93.0					12																	130185196		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185196G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.127C>T	12.37:g.130185196G>A							p.L43L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	453	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	43					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.127C>T	CCDS9266.1																																																																																				0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		3	66	0	0	0	1	0	3	66				
TALDO1	6888	broad.mit.edu	37	11	755990	755990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:755990G>A	ENST00000319006.3	+	2	362	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	TALDO1_ENST00000528097.1_Missense_Mutation_p.R70Q			P37837	TALDO_HUMAN	transaldolase 1	70					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCCTATGGCCGGAAGCTGGGC	0.607																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(208-210)cGg>cAg		transaldolase 1							47.0	44.0	45.0					11																	755990		2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:755990G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.209G>A	11.37:g.755990G>A	ENSP00000321259:p.Arg70Gln					TALDO1_ENST00000528097.1_Missense_Mutation_p.R70Q	p.R70Q			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	2	362	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	70					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.209G>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417818	0.25552	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.85955	-2.05;-2.05	4.39	-0.843	0.10744	Aldolase-type TIM barrel (1);	0.738535	0.13493	N	0.383858	T	0.76147	0.3947	L	0.37897	1.145	0.24361	N	0.99487	B;B	0.17465	0.022;0.0	B;B	0.12837	0.008;0.003	T	0.63756	-0.6565	10	0.59425	D	0.04	-20.5078	9.229	0.37425	0.625:0.0:0.375:0.0	.	70;70	F2Z393;P37837	.;TALDO_HUMAN	Q	70	ENSP00000321259:R70Q;ENSP00000437098:R70Q	ENSP00000321259:R70Q	R	+	2	0	TALDO1	745990	0.995000	0.38212	0.191000	0.23289	0.285000	0.27093	1.014000	0.29950	-0.368000	0.08040	-0.698000	0.03680	CGG		0.607	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		3	30	0	0	0	1	0	3	30				
PTPRJ	5795	broad.mit.edu	37	11	48149530	48149530	+	Missense_Mutation	SNP	A	A	G	rs561061051		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:48149530A>G	ENST00000418331.2	+	7	1644	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.N431S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	431	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTTCTACAACATCACAGTG	0.577													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21637	0.0		0.0	False		,,,				2504	0.0					ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1291-1293)aAc>aGc		protein tyrosine phosphatase, receptor type, J							122.0	101.0	108.0					11																	48149530		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48149530A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1292A>G	11.37:g.48149530A>G	ENSP00000400010:p.Asn431Ser					PTPRJ_ENST00000440289.2_Missense_Mutation_p.N431S	p.N431S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			7	1644	+			431			Fibronectin type-III 4.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1292A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331422	0.41297	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.56611	0.45;0.45	6.04	2.52	0.30459	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45034	0.1322	L	0.39397	1.21	0.34148	D	0.667178	B;B	0.33919	0.109;0.432	B;B	0.42692	0.262;0.395	T	0.46162	-0.9211	9	0.09338	T	0.73	.	9.4635	0.38798	0.8428:0.0:0.1572:0.0	.	431;431	Q12913;Q6P4H4	PTPRJ_HUMAN;.	S	431	ENSP00000400010:N431S;ENSP00000409733:N431S	ENSP00000400010:N431S	N	+	2	0	PTPRJ	48106106	1.000000	0.71417	0.997000	0.53966	0.003000	0.03518	0.890000	0.28295	0.190000	0.20209	-1.215000	0.01618	AAC		0.577	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			52	62	0	0	0	1	0	52	62				
NPAT	4863	broad.mit.edu	37	11	108059894	108059894	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:108059894T>C	ENST00000278612.8	-	6	600	c.495A>G	c.(493-495)tcA>tcG	p.S165S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	165	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCGATGGATCTGAAATTTGGC	0.413																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(493-495)tcA>tcG		nuclear protein, ataxia-telangiectasia locus							127.0	126.0	126.0					11																	108059894		1930	4147	6077	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108059894T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.495A>G	11.37:g.108059894T>C							p.S165S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	6	600	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	165			Interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.495A>G	CCDS41710.1																																																																																				0.413	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		3	117	0	0	0	1	0	3	117				
AKAP13	11214	broad.mit.edu	37	15	86262400	86262400	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:86262400A>C	ENST00000394518.2	+	23	6190	c.6095A>C	c.(6094-6096)cAg>cCg	p.Q2032P	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.Q277P|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2036P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2032	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTTTTGAGCAGCAGATGGTA	0.483																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6094-6096)cAg>cCg		A kinase (PRKA) anchor protein 13							136.0	115.0	122.0					15																	86262400		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86262400A>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6095A>C	15.37:g.86262400A>C	ENSP00000378026:p.Gln2032Pro					AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2036P|AKAP13_ENST00000394510.2_Missense_Mutation_p.Q277P|AKAP13_ENST00000560579.1_3'UTR	p.Q2032P	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			23	6190	+			2032			DH.|Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6095A>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452048	0.63290	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.62498	0.02;0.02;0.02	5.05	5.05	0.67936	Dbl homology (DH) domain (5);	.	.	.	.	T	0.56337	0.1978	N	0.03253	-0.375	0.41114	D	0.985768	D;P;P	0.76494	0.999;0.659;0.746	D;B;P	0.68943	0.961;0.372;0.478	T	0.61569	-0.7036	9	0.26408	T	0.33	.	14.4171	0.67158	1.0:0.0:0.0:0.0	.	2012;2032;2036	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	P	112;2036;2032;2035;2011;277	ENSP00000354718:Q2036P;ENSP00000378026:Q2032P;ENSP00000378018:Q277P	ENSP00000354718:Q2036P	Q	+	2	0	AKAP13	84063404	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.940000	0.63533	2.244000	0.73946	0.533000	0.62120	CAG		0.483	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		22	33	0	0	0	1	0	22	33				
KDM4B	23030	broad.mit.edu	37	19	5131427	5131427	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:5131427G>A	ENST00000159111.4	+	12	1874	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	KDM4B_ENST00000536461.1_Silent_p.E586E	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	552					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCCTTTGAGCACTTTGCCC	0.657																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1654-1656)gaG>gaA		lysine (K)-specific demethylase 4B							41.0	41.0	41.0					19																	5131427		2200	4293	6493	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5131427G>A	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1656G>A	19.37:g.5131427G>A						KDM4B_ENST00000536461.1_Silent_p.E586E	p.E552E	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			12	1874	+			552					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.1656G>A	CCDS12138.1																																																																																				0.657	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		16	39	0	0	0	1	0	16	39				
DNAH1	25981	broad.mit.edu	37	3	52420205	52420205	+	Silent	SNP	G	G	A	rs375847949		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52420205G>A	ENST00000420323.2	+	55	8916	c.8655G>A	c.(8653-8655)cgG>cgA	p.R2885R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2885	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGACCCGGAATTCAGTGC	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8653-8655)cgG>cgA		dynein, axonemal, heavy chain 1							57.0	63.0	61.0					3																	52420205		2097	4222	6319	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52420205G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8655G>A	3.37:g.52420205G>A							p.R2885R	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	55	8916	+			2885			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8655G>A	CCDS46842.1																																																																																				0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	5	0	0	0	1	0	6	5				
THBS4	7060	broad.mit.edu	37	5	79335903	79335903	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:79335903T>G	ENST00000350881.2	+	2	282	c.92T>G	c.(91-93)tTt>tGt	p.F31C	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	31	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCCAGTCTTTGACCTTCTC	0.493																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(91-93)tTt>tGt		thrombospondin 4							80.0	82.0	81.0					5																	79335903		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79335903T>G		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.92T>G	5.37:g.79335903T>G	ENSP00000339730:p.Phe31Cys					THBS4_ENST00000511733.1_5'UTR	p.F31C	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	2	282	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	31			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.92T>G	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697089	0.48202	.	.	ENSG00000113296	ENST00000350881	D	0.86432	-2.12	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.316292	0.35067	N	0.003473	D	0.87759	0.6258	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.53185	0.72	D	0.89143	0.3518	10	0.87932	D	0	-13.5909	13.9247	0.63955	0.0:0.0:0.0:1.0	.	31	P35443	TSP4_HUMAN	C	31	ENSP00000339730:F31C	ENSP00000339730:F31C	F	+	2	0	THBS4	79371659	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	4.564000	0.60830	1.923000	0.55706	0.372000	0.22366	TTT		0.493	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			52	66	0	0	0	1	0	52	66				
TIMELESS	8914	broad.mit.edu	37	12	56827689	56827689	+	Missense_Mutation	SNP	C	C	G	rs527779087		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56827689C>G	ENST00000553532.1	-	3	269	c.119G>C	c.(118-120)cGc>cCc	p.R40P	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R40P|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R40P					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCAAATAGCGGATCAGATC	0.542																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(118-120)cGc>cCc		timeless circadian clock							118.0	116.0	117.0					12																	56827689		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56827689C>G	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.119G>C	12.37:g.56827689C>G	ENSP00000450607:p.Arg40Pro					TIMELESS_ENST00000553532.1_Missense_Mutation_p.R40P|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R40P	p.R40P	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			3	273	-			40						Missense_Mutation	SNP	ENST00000553532.1	37	c.119G>C	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935507	0.92458	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.48201	0.82;0.82;0.82	5.44	5.44	0.79542	Timeless protein (1);	0.052615	0.64402	D	0.000001	T	0.74176	0.3682	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.78507	-0.2177	10	0.87932	D	0	-12.5179	18.4236	0.90600	0.0:1.0:0.0:0.0	.	40;40	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	P	40	ENSP00000229201:R40P;ENSP00000450607:R40P;ENSP00000450848:R40P	ENSP00000229201:R40P	R	-	2	0	TIMELESS	55113956	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.598000	0.82745	2.735000	0.93741	0.555000	0.69702	CGC		0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		15	147	0	0	0	1	0	15	147				
DPEP2	64174	broad.mit.edu	37	16	68026419	68026419	+	Silent	SNP	G	G	A	rs151283462		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:68026419G>A	ENST00000572888.1	-	2	1034	c.384C>T	c.(382-384)ggC>ggT	p.G128G	DPEP2_ENST00000412757.2_Silent_p.G128G|DPEP2_ENST00000393847.1_Silent_p.G128G			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	128					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTGGGCGCCCACGAGGC	0.567																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(382-384)ggC>ggT		dipeptidase 2		G		2,4394	6.2+/-15.9	0,2,2196	85.0	80.0	82.0		384	-0.2	1.0	16	dbSNP_134	82	0,8600		0,0,4300	yes	coding-synonymous	DPEP2	NM_022355.2		0,2,6496	AA,AG,GG		0.0,0.0455,0.0154		128/487	68026419	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68026419G>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.384C>T	16.37:g.68026419G>A						DPEP2_ENST00000572888.1_Silent_p.G128G|DPEP2_ENST00000393847.1_Silent_p.G128G	p.G128G			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	4	1049	-		Ovarian(137;0.192)	128					B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	c.384C>T	CCDS10857.1																																																																																				0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		44	62	0	0	0	1	0	44	62				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		3	114	0	0	0	1	0	3	114				
UGGT2	55757	broad.mit.edu	37	13	96675958	96675958	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr13:96675958G>T	ENST00000376747.3	-	3	367	c.297C>A	c.(295-297)gaC>gaA	p.D99E	UGGT2_ENST00000376712.4_Missense_Mutation_p.D99E|UGGT2_ENST00000376714.3_Missense_Mutation_p.D99E|UGGT2_ENST00000397618.3_Missense_Mutation_p.D99E	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	99					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGTAAATTGTCTAGAAACT	0.318																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(295-297)gaC>gaA		UDP-glucose glycoprotein glucosyltransferase 2							94.0	96.0	96.0					13																	96675958		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96675958G>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.297C>A	13.37:g.96675958G>T	ENSP00000365938:p.Asp99Glu					UGGT2_ENST00000397618.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376714.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376712.4_Missense_Mutation_p.D99E	p.D99E	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			3	367	-			99					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.297C>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205162	0.39003	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.30714	3.13;1.52	5.58	3.74	0.42951	.	0.220343	0.46758	D	0.000276	T	0.29256	0.0728	L	0.56769	1.78	0.25961	N	0.982623	P;P;B	0.39480	0.675;0.675;0.049	B;B;B	0.39258	0.295;0.295;0.027	T	0.26503	-1.0101	10	0.87932	D	0	-18.7148	8.0807	0.30744	0.0749:0.0:0.5962:0.3289	.	99;99;99	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	E	99	ENSP00000365938:D99E;ENSP00000380743:D99E	ENSP00000365902:D99E	D	-	3	2	UGGT2	95473959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.779000	0.26746	1.345000	0.45676	0.650000	0.86243	GAC		0.318	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		3	67	1	0	0.004672	1	0.0048472	3	67				
ZMIZ2	83637	broad.mit.edu	37	7	44799776	44799776	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:44799776C>T	ENST00000309315.4	+	8	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000441627.1_Silent_p.G340G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACGGGCAGGGCGCCAGCTTCA	0.687																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1018-1020)ggC>ggT		zinc finger, MIZ-type containing 2							29.0	36.0	34.0					7																	44799776		2021	4171	6192	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44799776C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1020C>T	7.37:g.44799776C>T						ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron	p.G340G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			8	1143	+			340			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.1020C>T	CCDS43576.1																																																																																				0.687	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		8	55	0	0	0	1	0	8	55				
KLHDC10	23008	broad.mit.edu	37	7	129710591	129710591	+	Silent	SNP	T	T	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:129710591T>G	ENST00000335420.5	+	1	242	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	36	Gly-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						gcagcgggggtcgggggACTG	0.766																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(106-108)ggT>ggG		kelch domain containing 10							5.0	6.0	6.0					7																	129710591		1520	2987	4507	SO:0001819	synonymous_variant	23008							g.chr7:129710591T>G		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.108T>G	7.37:g.129710591T>G							p.G36G	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			1	242	+			36			Gly-rich.		Q86Y99|Q92554	Silent	SNP	ENST00000335420.5	37	c.108T>G	CCDS5815.1																																																																																				0.766	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			5	18	0	0	0	1	0	5	18				
UGT2B4	7363	broad.mit.edu	37	4	70361507	70361507	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:70361507T>C	ENST00000305107.6	-	1	119	c.73A>G	c.(73-75)Aag>Gag	p.K25E	UGT2B4_ENST00000512583.1_Missense_Mutation_p.K25E|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	25					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACCAGCACCTTTCCACAACTC	0.458																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(73-75)Aag>Gag		UDP glucuronosyltransferase 2 family, polypeptide B4							152.0	153.0	153.0					4																	70361507		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361507T>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.73A>G	4.37:g.70361507T>C	ENSP00000305221:p.Lys25Glu					UGT2B4_ENST00000512583.1_Missense_Mutation_p.K25E|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	p.K25E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	119	-			25					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.73A>G	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292647	0.40594	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.66099	-0.19;-0.19;-0.1	2.41	2.41	0.29592	.	0.085120	0.46442	U	0.000294	T	0.77110	0.4082	M	0.93420	3.415	0.80722	D	1	P;P	0.47910	0.902;0.881	P;P	0.54499	0.754;0.648	T	0.80094	-0.1526	10	0.87932	D	0	.	8.376	0.32442	0.0:0.0:0.0:1.0	.	25;25	G5E9X8;P06133	.;UD2B4_HUMAN	E	25	ENSP00000421290:K25E;ENSP00000305221:K25E;ENSP00000421113:K25E	ENSP00000305221:K25E	K	-	1	0	UGT2B4	70396096	0.995000	0.38212	0.959000	0.39883	0.062000	0.15995	3.042000	0.49815	1.105000	0.41606	0.254000	0.18369	AAG		0.458	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		4	179	0	0	0	1	0	4	179				
SERPINA12	145264	broad.mit.edu	37	14	94964687	94964687	+	Silent	SNP	C	C	A	rs144330691	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:94964687C>A	ENST00000341228.2	-	3	843	c.48G>T	c.(46-48)acG>acT	p.T16T	SERPINA12_ENST00000556881.1_Silent_p.T16T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GACCTTTCACCGTGAGGAGAA	0.468																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(46-48)acG>acT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							90.0	92.0	91.0					14																	94964687		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964687C>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.48G>T	14.37:g.94964687C>A						SERPINA12_ENST00000556881.1_Silent_p.T16T	p.T16T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	843	-			16						Silent	SNP	ENST00000341228.2	37	c.48G>T	CCDS9926.1																																																																																				0.468	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		3	83	1	0	0.115264	1	0.11667	3	83				
ERBB2IP	55914	broad.mit.edu	37	5	65338967	65338967	+	Silent	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:65338967C>A	ENST00000284037.5	+	16	1758	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R	ERBB2IP_ENST00000380935.1_Silent_p.R457R|ERBB2IP_ENST00000508515.1_Silent_p.R457R|ERBB2IP_ENST00000380939.2_Silent_p.R457R|ERBB2IP_ENST00000380943.2_Silent_p.R457R|ERBB2IP_ENST00000506030.1_Silent_p.R457R|ERBB2IP_ENST00000380936.1_Silent_p.R457R|ERBB2IP_ENST00000380938.2_Silent_p.R457R|ERBB2IP_ENST00000511297.1_Silent_p.R457R|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	457					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAGGAAACAGCGGGCTCAAGT	0.353																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1369-1371)Cgg>Agg		erbb2 interacting protein							85.0	82.0	83.0					5																	65338967		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65338967C>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1369C>A	5.37:g.65338967C>A						ERBB2IP_ENST00000511297.1_Silent_p.R457R|ERBB2IP_ENST00000380939.2_Silent_p.R457R|ERBB2IP_ENST00000508515.1_Silent_p.R457R|ERBB2IP_ENST00000380936.1_Silent_p.R457R|ERBB2IP_ENST00000380935.1_Silent_p.R457R|ERBB2IP_ENST00000506030.1_Silent_p.R457R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Silent_p.R457R|ERBB2IP_ENST00000380938.2_Silent_p.R457R	p.R457R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	16	1758	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	457					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.1369C>A	CCDS58953.1																																																																																				0.353	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		3	66	1	0	1	1	1	3	66				
DENND5B	160518	broad.mit.edu	37	12	31605201	31605201	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:31605201G>A	ENST00000389082.5	-	5	1566	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	DENND5B_ENST00000354285.4_Silent_p.N456N|DENND5B_ENST00000306833.6_Silent_p.N469N|DENND5B_ENST00000536562.1_Silent_p.N469N|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	434				N -> D (in Ref. 4; AAH68580). {ECO:0000305}.	positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGACATTGCCGTTCTTTTTGT	0.468																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1300-1302)aaC>aaT		DENN/MADD domain containing 5B							145.0	142.0	143.0					12																	31605201		1931	4131	6062	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31605201G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1302C>T	12.37:g.31605201G>A						DENND5B_ENST00000306833.6_Silent_p.N469N|DENND5B_ENST00000354285.4_Silent_p.N456N|DENND5B_ENST00000536562.1_Silent_p.N469N	p.N434N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			5	1566	-			434	N -> D (in Ref. 4; AAH68580).				B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.1302C>T	CCDS44857.1																																																																																				0.468	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		4	155	0	0	0	1	0	4	155				
CEP128	145508	broad.mit.edu	37	14	81380710	81380710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:81380710G>A	ENST00000555265.1	-	4	565	c.190C>T	c.(190-192)Cga>Tga	p.R64*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.R64*|CEP128_ENST00000327841.2_Nonsense_Mutation_p.R4*|CEP128_ENST00000216517.6_Nonsense_Mutation_p.R64*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	64						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCGGTATCGTCCAAGCATC	0.403																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(190-192)Cga>Tga		centrosomal protein 128kDa							181.0	164.0	170.0					14																	81380710		2203	4300	6503	SO:0001587	stop_gained	145508					centriole|spindle pole		g.chr14:81380710G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.190C>T	14.37:g.81380710G>A	ENSP00000451162:p.Arg64*					CEP128_ENST00000216517.6_Nonsense_Mutation_p.R64*|CEP128_ENST00000281129.3_Nonsense_Mutation_p.R64*|CEP128_ENST00000327841.2_Nonsense_Mutation_p.R4*	p.R64*			Q6ZU80	CE128_HUMAN			4	565	-			64					B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	c.190C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009225	0.93346	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042;ENST00000557411	.	.	.	5.15	5.15	0.70609	.	0.735547	0.11822	N	0.526074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.6039	0.51020	0.0:0.0:0.8222:0.1778	.	.	.	.	X	64;64;64;64;4;64;64;4	.	ENSP00000216517:R64X	R	-	1	2	CEP128	80450463	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	4.483000	0.60264	2.548000	0.85928	0.591000	0.81541	CGA		0.403	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		5	158	0	0	0	1	0	5	158				
NEBL	10529	broad.mit.edu	37	10	21097453	21097453	+	Missense_Mutation	SNP	G	G	A	rs143149169		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:21097453G>A	ENST00000377122.4	-	26	3143	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	916	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATCAGACGGTCTTGTTAC	0.408																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2746-2748)cCg>cTg		nebulette		G	,LEU/PRO,	3,4403	4.2+/-10.8	0,3,2200	109.0	102.0	104.0		,2747,	4.8	0.7	10	dbSNP_134	104	0,8600		0,0,4300	yes	intron,missense,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,98,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,benign,	,916/1015,	21097453	3,13003	2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21097453G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2747C>T	10.37:g.21097453G>A	ENSP00000366326:p.Pro916Leu					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.P916L	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			26	3143	-			916			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2747C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629363	0.28978	6.81E-4	0.0	ENSG00000078114	ENST00000377122	T	0.04917	3.53	5.76	4.8	0.61643	.	0.345858	0.24791	N	0.035573	T	0.04724	0.0128	N	0.22421	0.69	0.80722	D	1	B	0.32382	0.368	B	0.19391	0.025	T	0.52601	-0.8554	10	0.20519	T	0.43	.	15.9979	0.80265	0.0:0.1346:0.8654:0.0	.	916	O76041	NEBL_HUMAN	L	916	ENSP00000366326:P916L	ENSP00000366326:P916L	P	-	2	0	NEBL	21137459	1.000000	0.71417	0.698000	0.30274	0.870000	0.49936	2.575000	0.46025	2.749000	0.94314	0.551000	0.68910	CCG		0.408	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		4	101	0	0	0	1	0	4	101				
TAB1	10454	broad.mit.edu	37	22	39824142	39824142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr22:39824142G>A	ENST00000216160.6	+	10	1323	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	TAB1_ENST00000331454.3_Missense_Mutation_p.A421T	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	421					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGTCAACGGGGCTCACAGTGC	0.642																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(1261-1263)Gct>Act		TGF-beta activated kinase 1/MAP3K7 binding protein 1							156.0	116.0	130.0					22																	39824142		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39824142G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1261G>A	22.37:g.39824142G>A	ENSP00000216160:p.Ala421Thr					TAB1_ENST00000331454.3_Missense_Mutation_p.A421T	p.A421T	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			10	1323	+			421					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.1261G>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909361	0.17833	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.45668	0.97;0.89	5.51	4.47	0.54385	.	0.218762	0.39274	N	0.001410	T	0.20129	0.0484	N	0.08118	0	0.33526	D	0.593053	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.22452	-1.0216	10	0.14656	T	0.56	-25.5583	8.8051	0.34932	0.0749:0.0:0.7694:0.1557	.	421;421;565	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	T	421	ENSP00000216160:A421T;ENSP00000333049:A421T	ENSP00000216160:A421T	A	+	1	0	TAB1	38154088	0.997000	0.39634	0.996000	0.52242	0.430000	0.31655	3.165000	0.50778	1.258000	0.44101	0.650000	0.86243	GCT		0.642	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		10	95	0	0	0	1	0	10	95				
MAGEE1	57692	broad.mit.edu	37	X	75649858	75649858	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:75649858T>C	ENST00000361470.2	+	1	1813	c.1535T>C	c.(1534-1536)aTc>aCc	p.I512T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	512	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAGTACCCTATCCGGGAGTCT	0.502																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1534-1536)aTc>aCc		melanoma antigen family E, 1							60.0	59.0	59.0					X																	75649858		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649858T>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1535T>C	X.37:g.75649858T>C	ENSP00000354912:p.Ile512Thr						p.I512T	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1813	+			512			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1535T>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	T	6.811	0.518630	0.13005	.	.	ENSG00000198934	ENST00000361470	T	0.13307	2.6	2.13	2.13	0.27403	.	.	.	.	.	T	0.18425	0.0442	L	0.46157	1.445	0.09310	N	1	P	0.39181	0.663	P	0.49085	0.6	T	0.13602	-1.0503	9	0.54805	T	0.06	.	5.4715	0.16672	0.0:0.0:0.0:1.0	.	512	Q9HCI5	MAGE1_HUMAN	T	512	ENSP00000354912:I512T	ENSP00000354912:I512T	I	+	2	0	MAGEE1	75566262	0.998000	0.40836	0.052000	0.19188	0.001000	0.01503	2.127000	0.42035	1.070000	0.40811	0.481000	0.45027	ATC		0.502	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		29	62	0	0	0	1	0	29	62				
TXNDC2	84203	broad.mit.edu	37	18	9887155	9887155	+	Missense_Mutation	SNP	A	A	G	rs200725516		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:9887155A>G	ENST00000306084.6	+	2	878	c.679A>G	c.(679-681)Acc>Gcc	p.T227A	TXNDC2_ENST00000357775.5_Missense_Mutation_p.T160A|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	227	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TATTGCCAAGACCTCAGTGAA	0.562																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(679-681)Acc>Gcc		thioredoxin domain containing 2 (spermatozoa)							131.0	132.0	132.0					18																	9887155		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887155A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.679A>G	18.37:g.9887155A>G	ENSP00000304908:p.Thr227Ala					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.T160A	p.T227A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	878	+			227			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.679A>G	CCDS42414.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	a	9.538	1.112696	0.20795	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.15952	2.38;2.38	3.14	-4.09	0.03951	.	3.297290	0.00964	N	0.003154	T	0.06096	0.0158	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22695	-1.0209	9	.	.	.	-0.4193	2.0291	0.03525	0.1619:0.1351:0.4638:0.2392	.	227	Q86VQ3	TXND2_HUMAN	A	100;160;227;227	ENSP00000350419:T160A;ENSP00000304908:T227A	.	T	+	1	0	TXNDC2	9877155	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.570000	0.00427	-0.337000	0.08426	-0.528000	0.04320	ACC		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	188	0	0	0	1	0	6	188				
FUBP1	8880	broad.mit.edu	37	1	78433338	78433339	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:78433338_78433339delTG	ENST00000370768.2	-	4	343_344	c.262_263delCA	c.(262-264)cagfs	p.Q88fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Q109fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.Q88fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	88					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGGTGGTAACTGTGTTCCAAAA	0.282			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(262-264)gfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78433338_78433339delTG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.262_263delCA	1.37:g.78433340_78433341delTG	ENSP00000359804:p.Gln88fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Q88fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Q109fs	p.Q88fs			Q96AE4	FUBP1_HUMAN			4	349_350	-			88					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.262_263delCA	CCDS683.1																																																																																				0.282	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		35	5						35	5	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	476						7	476	---	---	---	---
FAM168B	130074	broad.mit.edu	37	2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:131813195_131813197delGGA	ENST00000409185.1	-	4	333_335	c.226_228delTCC	c.(226-228)tccdel	p.S76del	FAM168B_ENST00000389915.3_In_Frame_Del_p.S76del	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	76						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						AGGGGTTCGGGGAGGAGGAGTAC	0.586																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(226-228)del		family with sequence similarity 168, member B																																				SO:0001651	inframe_deletion	130074							g.chr2:131813195_131813197delGGA		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.226_228delTCC	2.37:g.131813201_131813203delGGA	ENSP00000387051:p.Ser76del					FAM168B_ENST00000389915.3_In_Frame_Del_p.S76del	p.S76del	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN			4	333_335	-			76					Q2TAZ6|Q6NZ40	In_Frame_Del	DEL	ENST00000409185.1	37	c.226_228delTCC	CCDS42755.1																																																																																				0.586	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		7	125						7	125	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52661373	52661376	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52661373_52661376delTCTT	ENST00000296302.7	-	13	1455_1458	c.1454_1457delAAGA	c.(1453-1458)aaagagfs	p.KE485fs	PBRM1_ENST00000356770.4_Frame_Shift_Del_p.KE453fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KE485fs			Q86U86	PB1_HUMAN	polybromo 1	485					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTGGCAAGCTCTTTCTTCTTTGC	0.422			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1357-1362)agfs		polybromo 1																																				SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52661373_52661376delTCTT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1454_1457delAAGA	3.37:g.52661377_52661380delTCTT	ENSP00000296302:p.Lys485fs					PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KE485fs	p.KE453fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	12	1360_1363	-			485			Bromo 3.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.1358_1361delAAGA																																																																																					0.422	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		27	22						27	22	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.340	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			39	57						39	57	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85715705	85715708	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:85715705_85715708delCAAT	ENST00000295888.4	-	21	3858_3861	c.3451_3454delATTG	c.(3451-3456)attgttfs	p.IV1151fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.IV1151fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1151					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGGTGGAAACAATCAGAGATCGG	0.358																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3451-3456)ttfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715705_85715708delCAAT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3451_3454delATTG	4.37:g.85715705_85715708delCAAT	ENSP00000295888:p.Ile1151fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.IV1151fs	p.IV1151fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3858_3861	-		Hepatocellular(203;0.114)	1151					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.3451_3454delATTG	CCDS3609.1																																																																																				0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		49	159						49	159	---	---	---	---
SAP30	8819	broad.mit.edu	37	4	174292617	174292619	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:174292617_174292619delAGA	ENST00000296504.3	+	1	524_526	c.284_286delAGA	c.(283-288)cagaag>cag	p.K97del	RP11-798M19.6_ENST00000609900.1_RNA|RP11-798M19.6_ENST00000608892.1_RNA|RP11-798M19.6_ENST00000609153.1_RNA|RP11-798M19.6_ENST00000608794.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa											large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGCATCTCCCAGAAGAAGGTGAA	0.675																																						ENST00000296504.3																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(283-288)cag>c		Sin3A-associated protein, 30kDa																																				SO:0001651	inframe_deletion	8819				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity	g.chr4:174292617_174292619delAGA	AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"""sin3A-associated protein, 30kDa"""			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.284_286delAGA	4.37:g.174292620_174292622delAGA	ENSP00000296504:p.Lys97del						p.QK95del	NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)	1	524_526	+		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	95			Interaction with NCOR1 (By similarity).			In_Frame_Del	DEL	ENST00000296504.3	37	c.284_286delAGA	CCDS3817.1																																																																																				0.675	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864		22	50						22	50	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118479596	118479598	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118479596_118479598delATT	ENST00000311085.8	+	14	2517_2519	c.2437_2439delATT	c.(2437-2439)attdel	p.I814del	DMXL1_ENST00000539542.1_In_Frame_Del_p.I814del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	814										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAGGATGCATTATTGCATTAG	0.286																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2437-2439)del		Dmx-like 1																																				SO:0001651	inframe_deletion	1657							g.chr5:118479596_118479598delATT	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2437_2439delATT	5.37:g.118479599_118479601delATT	ENSP00000309690:p.Ile814del					DMXL1_ENST00000539542.1_In_Frame_Del_p.I814del	p.I814del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	14	2517_2519	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	814						In_Frame_Del	DEL	ENST00000311085.8	37	c.2437_2439delATT	CCDS4125.1																																																																																				0.286	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		122	281						122	281	---	---	---	---
HSD17B4	3295	broad.mit.edu	37	5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118810104_118810106delGAA	ENST00000256216.6	+	4	362_364	c.229_231delGAA	c.(229-231)gaadel	p.E78del	HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000504811.1_In_Frame_Del_p.E103del|HSD17B4_ENST00000510025.1_In_Frame_Del_p.E54del|HSD17B4_ENST00000515320.1_In_Frame_Del_p.E60del	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	78	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E77E(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AGATTCAGTGGAAGAAGGAGAGA	0.419																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			1	Substitution - coding silent(1)	p.E77E(1)	cervix(1)	breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(304-306)del		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)																																			SO:0001651	inframe_deletion	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118810104_118810106delGAA		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.229_231delGAA	5.37:g.118810107_118810109delGAA	ENSP00000256216:p.Glu78del					HSD17B4_ENST00000256216.6_In_Frame_Del_p.E78del|HSD17B4_ENST00000510025.1_In_Frame_Del_p.E54del|HSD17B4_ENST00000515320.1_In_Frame_Del_p.E60del|HSD17B4_ENST00000414835.2_5'UTR	p.E103del	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	5	488_490	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	78			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	In_Frame_Del	DEL	ENST00000256216.6	37	c.304_306delGAA	CCDS4126.1																																																																																				0.419	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		79	120						79	120	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156746913	156746915	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:156746913_156746915delGAA	ENST00000521420.1	+	13	1513_1515	c.1422_1424delGAA	c.(1420-1425)cggaag>cgg	p.K477del	CYFIP2_ENST00000377576.3_In_Frame_Del_p.K503del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.K503del|CYFIP2_ENST00000541131.1_In_Frame_Del_p.K428del|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_In_Frame_Del_p.K307del|CYFIP2_ENST00000347377.6_In_Frame_Del_p.K503del|CYFIP2_ENST00000435847.2_In_Frame_Del_p.K177del					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCGGTACGGAAGAAGAAGAAT	0.567																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(1498-1503)cgg>cg		cytoplasmic FMR1 interacting protein 2																																				SO:0001651	inframe_deletion	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746913_156746915delGAA	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1422_1424delGAA	5.37:g.156746922_156746924delGAA	ENSP00000430904:p.Lys477del					CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_In_Frame_Del_p.RK174del|CYFIP2_ENST00000541131.1_In_Frame_Del_p.RK425del|CYFIP2_ENST00000522463.1_In_Frame_Del_p.RK304del|CYFIP2_ENST00000521420.1_In_Frame_Del_p.RK474del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.RK500del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.RK500del	p.RK500del	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		14	1931_1933	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	500						In_Frame_Del	DEL	ENST00000521420.1	37	c.1500_1502delGAA																																																																																					0.567	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		51	322						51	322	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:31832672_31832674delAAG	ENST00000229729.6	-	19	1865_1867	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F|SLC44A4_ENST00000544672.1_In_Frame_Del_p.539_540FF>F	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1615-1620)ttt>tt		solute carrier family 44, member 4	Choline(DB00122)		,,	17,4247		2,13,2117					,,	-0.5	1.0			38	10,8244		3,4,4120	no	coding,coding,coding	SLC44A4	NM_025257.2,NM_001178045.1,NM_001178044.1	,,	5,17,6237	A1A1,A1R,RR		0.1212,0.3987,0.2157	,,	,,		27,12491				SO:0001651	inframe_deletion	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832672_31832674delAAG	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1845_1847delCTT	6.37:g.31832675_31832677delAAG	ENSP00000229729:p.Phe618del					SLC44A4_ENST00000375562.4_In_Frame_Del_p.FF575del|SLC44A4_ENST00000229729.6_In_Frame_Del_p.FF617del	p.FF541del	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			19	1913_1915	-			617					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	In_Frame_Del	DEL	ENST00000229729.6	37	c.1617_1619delCTT	CCDS4724.2																																																																																				0.567	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			7	25						7	25	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114277817	114277818	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:114277817_114277818delAA	ENST00000519065.1	-	4	699_700	c.323_324delTT	c.(322-324)tttfs	p.F108fs	HDAC2_ENST00000519108.1_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.F202fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	108	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|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)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F202fs*1(1)|p.F108fs*1(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GACAAAACTCAAAGAGTCCATC	0.361																																						ENST00000519065.1																			2	Deletion - Frameshift(2)	p.F202fs*1(1)|p.F108fs*1(1)	haematopoietic_and_lymphoid_tissue(2)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(322-324)tfs		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001589	frameshift_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114277817_114277818delAA	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.323_324delTT	6.37:g.114277817_114277818delAA	ENSP00000430432:p.Phe108fs					HDAC2_ENST00000398283.2_Frame_Shift_Del_p.F202fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.F78fs	p.F108fs			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	4	699_700	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	108			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Del	DEL	ENST00000519065.1	37	c.323_324delTT	CCDS43493.2																																																																																				0.361	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			16	87						16	87	---	---	---	---
TSPYL4	23270	broad.mit.edu	37	6	116574192	116574195	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:116574192_116574195delGAAA	ENST00000420283.1	-	1	1066_1069	c.977_980delTTTC	c.(976-981)ctttccfs	p.LS326fs	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	326					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GATTGGAGTGGAAAGAGACACCAC	0.525																																						ENST00000420283.1																			0				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11						c.(976-981)ccfs		TSPY-like 4																																				SO:0001589	frameshift_variant	23270				nucleosome assembly	nucleus		g.chr6:116574192_116574195delGAAA		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.977_980delTTTC	6.37:g.116574192_116574195delGAAA	ENSP00000410943:p.Leu326fs						p.LS326fs	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)	1	1066_1069	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	326					B4DYQ2|O94828|Q96GW8	Frame_Shift_Del	DEL	ENST00000420283.1	37	c.977_980delTTTC	CCDS5106.1																																																																																				0.525	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2			8	75						8	75	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29519880	29519881	+	Intron	DEL	TT	TT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:29519880_29519881delTT	ENST00000222792.6	+	7	1106				CHN2_ENST00000539406.1_Intron|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000409041.4_Frame_Shift_Del_p.F52fs|CHN2_ENST00000439711.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000421775.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000546235.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2						positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCTCAAACTCTTTGCCTGTTCA	0.525																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000409041.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(154-156)tfs		chimerin 2																																				SO:0001627	intron_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29519880_29519881delTT	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.577-14TT>-	7.37:g.29519880_29519881delTT						CHN2_ENST00000439711.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000546235.1_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000222792.6_Intron|CHN2_ENST00000424025.2_Intron	p.F52fs	NM_001039936.1	NP_001035025.1	P52757	CHIO_HUMAN			1	395_396	+			401					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Frame_Shift_Del	DEL	ENST00000222792.6	37	c.154_155delTT	CCDS5420.1																																																																																				0.525	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		15	93						15	93	---	---	---	---
PAEP	5047	broad.mit.edu	37	9	138453690	138453690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:138453690delG	ENST00000479141.1	+	1	87	c.43delG	c.(43-45)ggtfs	p.G15fs	PAEP_ENST00000277508.5_Frame_Shift_Del_p.G15fs|PAEP_ENST00000371766.2_Frame_Shift_Del_p.G15fs	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	15					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGGTCTGTGGTGTCCCGGC	0.667																																						ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(43-45)gtfs		progestagen-associated endometrial protein							20.0	19.0	19.0					9																	138453690		2194	4278	6472	SO:0001589	frameshift_variant	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138453690delG		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"""Lipocalins"""	8573	protein-coding gene	gene with protein product	"""glycodelin-A"", ""glycodelin-S"", ""glycodelin-F"", ""progesterone-associated endometrial protein"", ""glycodelin"", ""PP14 protein (placental protein 14)"", ""pregnancy-associated endometrial alpha-2-globulin"", ""alpha uterine protein"""	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.43delG	9.37:g.138453690delG	ENSP00000417898:p.Gly15fs					PAEP_ENST00000371766.2_Frame_Shift_Del_p.G15fs|PAEP_ENST00000277508.5_Frame_Shift_Del_p.G15fs	p.G15fs	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	1	87	+			15					Q5T6T1|Q9UG92	Frame_Shift_Del	DEL	ENST00000479141.1	37	c.43delG	CCDS35173.1																																																																																				0.667	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		2	4						2	4	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412254	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139412252_139412254delCGT	ENST00000277541.6	-	8	1466_1468	c.1391_1393delACG	c.(1390-1395)gacgcc>gcc	p.D464del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	464	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGGCA	0.665			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1390-1395)gcc>g		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412252_139412254delCGT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1391_1393delACG	9.37:g.139412255_139412257delCGT	ENSP00000277541:p.Asp464del	HNSCC(8;0.001)					p.DA464del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1466_1468	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	464			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1391_1393delACG	CCDS43905.1																																																																																				0.665	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		25	132						25	132	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	20						10	20	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51814320	51814320	+	RNA	DEL	A	A	-	rs11306955|rs63143662	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:51814320delA	ENST00000456967.1	-	0	1657					NR_038275.1																						AACTCTATTGAGAAAAACCTG	0.358													|||unknown(NO_COVERAGE)	3795	0.757788	0.3828	0.8372	5008	,	,		17665	0.9702		0.835	False		,,,				2504	0.91					ENST00000456967.1																			0																																																			0							g.chr10:51814320delA																													10.37:g.51814320delA								NR_038275.1						0	1657	-									RNA	DEL	ENST00000456967.1	37																																																																																						0.358	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			4	3						4	3	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132944858	132944861	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:132944858_132944861delCAGA	ENST00000368642.4	-	7	1182_1185	c.1097_1100delTCTG	c.(1096-1101)gtctggfs	p.VW366fs		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	366	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGGCTTCTCCCAGACAGACAGGTG	0.554																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1096-1101)ggfs		transcription elongation regulator 1-like																																				SO:0001589	frameshift_variant	256536							g.chr10:132944858_132944861delCAGA	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1097_1100delTCTG	10.37:g.132944862_132944865delCAGA	ENSP00000357631:p.Val366fs						p.VW366fs	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	7	1182_1185	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	366			WW 2.		Q5VWI2|Q86XM8	Frame_Shift_Del	DEL	ENST00000368642.4	37	c.1097_1100delTCTG	CCDS7662.2																																																																																				0.554	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		15	45						15	45	---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		57	128						57	128	---	---	---	---
ITGB7	3695	broad.mit.edu	37	12	53586167	53586169	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:53586167_53586169delAAG	ENST00000267082.5	-	14	2331_2333	c.2100_2102delCTT	c.(2098-2103)ttcttg>ttg	p.F700del	ITGB7_ENST00000338737.4_In_Frame_Del_p.F552del|ITGB7_ENST00000550743.2_In_Frame_Del_p.F552del|ITGB7_ENST00000422257.3_In_Frame_Del_p.F700del	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	700					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCCACCAAGAAGAAGAACA	0.567																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2098-2103)ttg>tt		integrin, beta 7																																				SO:0001651	inframe_deletion	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53586167_53586169delAAG		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2100_2102delCTT	12.37:g.53586173_53586175delAAG	ENSP00000267082:p.Phe700del					ITGB7_ENST00000550743.2_In_Frame_Del_p.FL552del|ITGB7_ENST00000338737.4_In_Frame_Del_p.FL552del|ITGB7_ENST00000422257.3_In_Frame_Del_p.FL700del	p.FL700del	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN			14	2331_2333	-			700					Q9UCP7|Q9UCS7	In_Frame_Del	DEL	ENST00000267082.5	37	c.2100_2102delCTT	CCDS8849.1																																																																																				0.567	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			42	125						42	125	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56495375	56495377	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56495375_56495377delGAA	ENST00000267101.3	+	28	4005_4007	c.3565_3567delGAA	c.(3565-3567)gaadel	p.E1191del	PA2G4_ENST00000552766.1_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_In_Frame_Del_p.E311del|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000415288.2_In_Frame_Del_p.E1132del|ERBB3_ENST00000450146.2_In_Frame_Del_p.E548del|ERBB3_ENST00000553131.1_In_Frame_Del_p.E432del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1191					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGGTACTGAAGAAGAAGATG	0.522																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3565-3567)del		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3																																				SO:0001651	inframe_deletion	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495375_56495377delGAA	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3565_3567delGAA	12.37:g.56495381_56495383delGAA	ENSP00000267101:p.Glu1191del					RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_In_Frame_Del_p.E432del|ERBB3_ENST00000415288.2_In_Frame_Del_p.E1132del|ERBB3_ENST00000450146.2_In_Frame_Del_p.E548del|ERBB3_ENST00000549832.1_In_Frame_Del_p.E311del	p.E1191del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4005_4007	+			1191					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	In_Frame_Del	DEL	ENST00000267101.3	37	c.3565_3567delGAA	CCDS31833.1																																																																																				0.522	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	75						9	75	---	---	---	---
CLPX	10845	broad.mit.edu	37	15	65443196	65443198	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:65443196_65443198delCTT	ENST00000300107.3	-	14	2053_2055	c.1865_1867delAAG	c.(1864-1869)gaagga>gga	p.E622del		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	622					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CGGGGCCATCCTTCTTCTTCAAC	0.384																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(1864-1869)gga>g		caseinolytic mitochondrial matrix peptidase chaperone subunit																																				SO:0001651	inframe_deletion	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65443196_65443198delCTT	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1865_1867delAAG	15.37:g.65443202_65443204delCTT	ENSP00000300107:p.Glu622del						p.EG622del	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			14	2053_2055	-			622					A1L428|A8K8F1|B9EGI8|Q9H4D9	In_Frame_Del	DEL	ENST00000300107.3	37	c.1865_1867delAAG	CCDS10202.1																																																																																				0.384	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		96	166						96	166	---	---	---	---
LRRC75A	388341	broad.mit.edu	37	17	16344635	16344636	+	IGR	INS	-	-	TT			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:16344635_16344636insTT	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						CTGTGATTGACTGTCAGTTGGT	0.416																																						ENST00000475953.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:16344635_16344636insTT																													17.37:g.16344635_16344636insTT						C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA		NR_027667.1						0	540	+									RNA	INS	ENST00000409083.3	37		CCDS11178.2																																																																																				0.416	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			16	33						16	33	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:42795593_42795594delTG	ENST00000575354.2	+	10	2713_2714	c.2673_2674delTG	c.(2671-2676)tctgtafs	p.V892fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V892fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.V1801fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	892	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5398-5403)tctafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795593_42795594delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2673_2674delTG	19.37:g.42795593_42795594delTG	ENSP00000458663:p.Val892fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.SV891fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SV891fs	p.SV1800fs			Q96RK0	CIC_HUMAN			11	5468_5469	+		Prostate(69;0.00682)	891					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5400_5401delTG	CCDS12601.1																																																																																				0.624	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			49	12						49	12	---	---	---	---
