#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
AKAP13	11214	broad.mit.edu	37	15	86124353	86124353	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:86124353G>A	ENST00000394518.2	+	7	3149	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.V1018V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1018					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						AGAGCCTGGTGCCACCAGGAG	0.572																																					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.(3052-3054)gtG>gtA		A kinase (PRKA) anchor protein 13							45.0	46.0	45.0					15																	86124353		2202	4299	6501	SO:0001819	synonymous_variant	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.chr15:86124353G>A	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.3054G>A	15.37:g.86124353G>A						AKAP13_ENST00000361243.2_Silent_p.V1018V	p.V1018V	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3149	+			1018					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.3054G>A	CCDS32319.1																																																																																				0.572	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	295	0	0	0	1	0	5	295				
STYXL1	51657	broad.mit.edu	37	7	75634627	75634627	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:75634627C>T	ENST00000248600.1	-	6	891	c.549G>A	c.(547-549)aaG>aaA	p.K183K	STYXL1_ENST00000359697.3_Silent_p.K183K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000451157.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	183	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTTTCAAGTCCTTCTGAATCT	0.398																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(547-549)aaG>aaA		serine/threonine/tyrosine interacting-like 1							101.0	96.0	98.0					7																	75634627		2203	4300	6503	SO:0001819	synonymous_variant	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634627C>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.549G>A	7.37:g.75634627C>T						STYXL1_ENST00000248600.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K	p.K183K			Q9Y6J8	STYL1_HUMAN			6	718	-			183			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.549G>A	CCDS5580.1																																																																																				0.398	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		55	298	0	0	0	1	0	55	298				
FMO3	2328	broad.mit.edu	37	1	171083214	171083214	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:171083214G>A	ENST00000367755.4	+	7	1006	c.895G>A	c.(895-897)Gta>Ata	p.V299I	FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000392085.2_Missense_Mutation_p.V299I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	299					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATTGTGTCCGTAAAGCCTAA	0.448																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(895-897)Gta>Ata		flavin containing monooxygenase 3							132.0	115.0	121.0					1																	171083214		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083214G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.895G>A	1.37:g.171083214G>A	ENSP00000356729:p.Val299Ile					FMO3_ENST00000392085.2_Missense_Mutation_p.V299I|FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I	p.V299I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1006	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		299					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.895G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.696916	0.00725	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.73	-3.92	0.04155	.	0.472641	0.25161	N	0.032676	T	0.07683	0.0193	N	0.05158	-0.105	0.09310	N	1	B;B;B	0.15141	0.006;0.012;0.002	B;B;B	0.13407	0.003;0.009;0.009	T	0.36529	-0.9744	10	0.12766	T	0.61	-5.0372	8.7136	0.34397	0.5223:0.1026:0.3751:0.0	.	236;279;299	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	299;299;279;236	ENSP00000356729:V299I;ENSP00000375935:V299I;ENSP00000444073:V279I;ENSP00000439500:V236I	ENSP00000356729:V299I	V	+	1	0	FMO3	169349838	0.000000	0.05858	0.034000	0.17996	0.041000	0.13682	-1.414000	0.02471	-1.022000	0.03346	-2.115000	0.00351	GTA		0.448	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		5	375	0	0	0	1	0	5	375				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			16	612	0	0	0	1	0	16	612				
HECW1	23072	broad.mit.edu	37	7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:43351452C>T	ENST00000395891.2	+	4	723	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(118-120)Cga>Tga		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							51.0	60.0	57.0					7																	43351452		1996	4148	6144	SO:0001587	stop_gained	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351452C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.118C>T	7.37:g.43351452C>T	ENSP00000379228:p.Arg40*					HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			4	723	+			40					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	c.118C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838602	0.91117	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.103	0.65070	0.3056:0.6944:0.0:0.0	.	.	.	.	X	40;40;39	.	ENSP00000265522:R39X	R	+	1	2	HECW1	43317977	0.992000	0.36948	0.995000	0.50966	0.246000	0.25737	2.924000	0.48876	2.813000	0.96785	0.655000	0.94253	CGA		0.617	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		54	239	0	0	0	1	0	54	239				
KEL	3792	broad.mit.edu	37	7	142655036	142655036	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142655036T>G	ENST00000355265.2	-	6	1024	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	184					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGTCCATTTACCAGAGATG	0.517																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(550-552)Aaa>Caa		Kell blood group, metallo-endopeptidase							76.0	66.0	69.0					7																	142655036		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655036T>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.550A>C	7.37:g.142655036T>G	ENSP00000347409:p.Lys184Gln					KEL_ENST00000479768.2_5'UTR	p.K184Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			6	1024	-	Melanoma(164;0.059)		184					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.550A>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	8.336	0.827505	0.16749	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.73363	-0.74;-0.74	5.8	3.26	0.37387	Peptidase M13 (1);	0.316302	0.26719	N	0.022860	T	0.49677	0.1571	N	0.14661	0.345	0.09310	N	1	B	0.32010	0.351	B	0.29663	0.105	T	0.30416	-0.9979	10	0.16896	T	0.51	-4.6538	5.6937	0.17843	0.0:0.0867:0.1694:0.744	.	184	P23276	KELL_HUMAN	Q	184;165	ENSP00000347409:K184Q;ENSP00000420011:K165Q	ENSP00000347409:K184Q	K	-	1	0	KEL	142365158	0.003000	0.15002	0.096000	0.21009	0.846000	0.48090	0.398000	0.20899	0.992000	0.38840	0.528000	0.53228	AAA		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		38	162	0	0	0	1	0	38	162				
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4																			3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(10-12)Aca>Gca									61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala						p.T4A	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	325	0	0	0	1	0	5	325				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				5	27	1	0	5.9392e-07	1	6.32237e-07	5	27				
SLC2A7	155184	broad.mit.edu	37	1	9085071	9085071	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:9085071G>A	ENST00000400906.1	-	2	113	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	38					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTAGCCGTACTGGAAGG	0.647																																						ENST00000400906.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(112-114)taC>taT		solute carrier family 2 (facilitated glucose transporter), member 7							52.0	52.0	52.0					1																	9085071		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9085071G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.114C>T	1.37:g.9085071G>A							p.Y38Y	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	2	113	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	38					A2A333	Silent	SNP	ENST00000400906.1	37	c.114C>T	CCDS98.2																																																																																				0.647	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		45	228	0	0	0	1	0	45	228				
SYNE2	23224	broad.mit.edu	37	14	64468799	64468799	+	Splice_Site	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:64468799G>C	ENST00000344113.4	+	29	3998	c.3786G>C	c.(3784-3786)agG>agC	p.R1262S	SYNE2_ENST00000554584.1_Splice_Site_p.R1262S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Splice_Site_p.R1262S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1262					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACACCTAAGGGTAAGTATAT	0.368																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.e29+1		spectrin repeat containing, nuclear envelope 2							113.0	106.0	108.0					14																	64468799		1862	4096	5958	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64468799G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3786+1G>C	14.37:g.64468799G>C						SYNE2_ENST00000554584.1_Splice_Site_p.R1262_splice|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Splice_Site_p.R1262_splice	p.R1262_splice	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	29	4016	+			1262					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.3786_splice	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844143	0.32606	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59224	0.66;0.66;0.28	5.41	5.41	0.78517	.	0.323796	0.26446	N	0.024340	T	0.48732	0.1516	L	0.47716	1.5	0.80722	D	1	P;P	0.38504	0.501;0.634	B;B	0.28011	0.039;0.085	T	0.51450	-0.8704	10	0.39692	T	0.17	.	17.3435	0.87304	0.0:0.0:1.0:0.0	.	1262;1262	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	1262	ENSP00000350719:R1262S;ENSP00000341781:R1262S;ENSP00000452570:R1262S	ENSP00000261678:R1262S	R	+	3	2	SYNE2	63538552	1.000000	0.71417	0.941000	0.38009	0.045000	0.14185	5.812000	0.69194	2.709000	0.92574	0.655000	0.94253	AGG		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Missense_Mutation	80	315	0	0	0	1	0	80	315				
S1PR1	1901	broad.mit.edu	37	1	101705012	101705012	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:101705012T>G	ENST00000305352.6	+	2	847	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	158					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAGCAATAACTTCCGCCTCTT	0.557											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(472-474)Ttc>Gtc		sphingosine-1-phosphate receptor 1							99.0	93.0	95.0					1																	101705012		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705012T>G	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.472T>G	1.37:g.101705012T>G	ENSP00000305416:p.Phe158Val		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.F158V	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	847	+			158					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.472T>G	CCDS777.1	.	.	.	.	.	.	.	.	.	.	T	6.195	0.404153	0.11754	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36699	1.24	5.46	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.270993	0.42964	D	0.000624	T	0.04588	0.0125	N	0.02916	-0.46	0.31924	N	0.613066	B	0.02656	0.0	B	0.06405	0.002	T	0.38067	-0.9678	10	0.17369	T	0.5	.	7.8339	0.29360	0.0:0.0721:0.1384:0.7895	.	158	P21453	S1PR1_HUMAN	V	158	ENSP00000305416:F158V	ENSP00000305416:F158V	F	+	1	0	S1PR1	101477600	1.000000	0.71417	0.972000	0.41901	0.514000	0.34195	3.361000	0.52306	0.918000	0.36919	0.374000	0.22700	TTC		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		71	279	0	0	0	1	0	71	279				
COL5A1	1289	broad.mit.edu	37	9	137593107	137593107	+	Silent	SNP	C	C	T	rs563191799		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(580-582)agC>agT		collagen, type V, alpha 1							170.0	124.0	140.0					9																	137593107		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593107C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.582C>T	9.37:g.137593107C>T						COL5A1_ENST00000464187.1_3'UTR	p.S194S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	996	+		Myeloproliferative disorder(178;0.0341)	194			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.582C>T	CCDS6982.1																																																																																				0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		37	144	0	0	0	1	0	37	144				
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	rs182563365		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0					ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(1627-1629)Gtc>Atc		kinase non-catalytic C-lobe domain (KIND) containing 1			ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	47.0	42.0	43.0		1627	-5.3	0.0	10		43	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KNDC1	NM_152643.6	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	543/1750	135009218	4,13002	2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135009218G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1627G>A	10.37:g.135009218G>A	ENSP00000304437:p.Val543Ile					KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I	p.V543I			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	10	1648	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	543			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1627G>A	CCDS7674.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.067	-0.671207	0.03403	2.27E-4	3.49E-4	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.32272	1.46;1.46;1.46	4.63	-5.31	0.02730	KIND (2);	0.976965	0.08346	N	0.960109	T	0.13415	0.0325	N	0.15975	0.35	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.002	T	0.28138	-1.0053	10	0.27082	T	0.32	-20.5636	5.616	0.17432	0.5361:0.0:0.2633:0.2006	.	478;543	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	I	543;543;478	ENSP00000304437:V543I;ENSP00000357561:V543I;ENSP00000357560:V478I	ENSP00000304437:V543I	V	+	1	0	KNDC1	134859208	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.398000	0.07259	-0.658000	0.05366	-0.692000	0.03713	GTC		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		26	90	0	0	0	1	0	26	90				
OR4D5	219875	broad.mit.edu	37	11	123810974	123810974	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:123810974G>A	ENST00000307033.2	+	1	725	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTGGGATCGTACACAGCAC	0.512																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(649-651)tcG>tcA		olfactory receptor, family 4, subfamily D, member 5							255.0	236.0	242.0					11																	123810974		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810974G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.651G>A	11.37:g.123810974G>A							p.S217S	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	725	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	217					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.651G>A	CCDS31699.1																																																																																				0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		7	811	0	0	0	1	0	7	811				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	61	0	0	0	1	0	7	61				
CELSR3	1951	broad.mit.edu	37	3	48696487	48696487	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:48696487C>T	ENST00000164024.4	-	1	3861	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R1194H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1194	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGGATGCGCCCAATAAT	0.537																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3580-3582)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 3							117.0	111.0	113.0					3																	48696487		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696487C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3581G>A	3.37:g.48696487C>T	ENSP00000164024:p.Arg1194His					CELSR3_ENST00000164024.4_Missense_Mutation_p.R1194H	p.R1194H			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3861	-			1194			Cadherin 9.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3581G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049277	0.55218	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.39406	1.08;1.08	5.44	4.56	0.56223	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59797	0.2220	M	0.82056	2.57	0.46437	D	0.999045	D;D	0.89917	1.0;0.999	D;P	0.63488	0.915;0.869	T	0.63545	-0.6613	9	0.72032	D	0.01	.	7.936	0.29931	0.0:0.7749:0.0:0.2251	.	1194;1264	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	1194	ENSP00000164024:R1194H;ENSP00000445694:R1194H	ENSP00000164024:R1194H	R	-	2	0	CELSR3	48671491	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.728000	0.47319	2.561000	0.86390	0.561000	0.74099	CGC		0.537	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	228	0	0	0	1	0	5	228				
PCDHA1	56147	broad.mit.edu	37	5	140167336	140167336	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140167336C>T	ENST00000504120.2	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						ENST00000504120.2																			2	Substitution - Missense(2)	p.N487K(2)	lung(2)	breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1459-1461)aaC>aaT									68.0	73.0	71.0					5																	140167336		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167336C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1461C>T	5.37:g.140167336C>T						PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	p.N487N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1461C>T	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		102	362	0	0	0	1	0	102	362				
OR1C1	26188	broad.mit.edu	37	1	247920907	247920907	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:247920907G>T	ENST00000408896.2	-	1	1075	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(802-804)Cct>Act		olfactory receptor, family 1, subfamily C, member 1							87.0	84.0	85.0					1																	247920907		2021	4201	6222	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920907G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.802C>A	1.37:g.247920907G>T	ENSP00000386138:p.Pro268Thr						p.P268T	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1075	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	268					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.802C>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.835122	0.00579	.	.	ENSG00000221888	ENST00000408896	T	0.00207	8.55	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.11313	0.125	0.09310	N	1	B	0.22800	0.075	B	0.32393	0.145	T	0.09122	-1.0689	9	0.38643	T	0.18	.	5.286	0.15702	0.1055:0.0:0.5646:0.3299	.	268	Q15619	OR1C1_HUMAN	T	268	ENSP00000386138:P268T	ENSP00000386138:P268T	P	-	1	0	OR1C1	245987530	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-0.309000	0.08145	0.681000	0.31386	0.591000	0.81541	CCT		0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			119	278	1	0	8.64887e-64	1	9.97947e-64	119	278				
BCORL1	63035	broad.mit.edu	37	X	129185988	129185988	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:129185988G>A	ENST00000218147.7	+	12	5047	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1617H|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1617					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGTGTCCCGCGGGTAAGTG	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		14595	0.0		0.0	False		,,,				2504	0.001					ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4849-4851)cGc>cAc		BCL6 corepressor-like 1							110.0	87.0	95.0					X																	129185988		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129185988G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4850G>A	X.37:g.129185988G>A	ENSP00000218147:p.Arg1617His					BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1617H	p.R1617H	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			11	4894	+			1617					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4850G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798032	0.31777	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.40476	1.03;1.32;1.04;1.03;1.37	5.53	2.58	0.30949	.	0.759301	0.10829	N	0.629586	T	0.36220	0.0959	L	0.47716	1.5	0.32970	D	0.522206	B;B	0.24651	0.108;0.023	B;B	0.18871	0.023;0.006	T	0.42310	-0.9459	10	0.66056	D	0.02	-3.2989	9.7559	0.40502	0.2547:0.0:0.7453:0.0	.	1691;1617	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	H	1617;1691;1487;1617;1291	ENSP00000218147:R1617H;ENSP00000307541:R1691H;ENSP00000352253:R1487H;ENSP00000437775:R1617H;ENSP00000399483:R1291H	ENSP00000218147:R1617H	R	+	2	0	BCORL1	129013669	0.988000	0.35896	0.628000	0.29241	0.404000	0.30871	2.792000	0.47837	0.420000	0.25954	0.513000	0.50165	CGC		0.527	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		61	231	0	0	0	1	0	61	231				
PUM2	23369	broad.mit.edu	37	2	20508209	20508209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:20508209G>A	ENST00000361078.2	-	5	677	c.655C>T	c.(655-657)Cct>Tct	p.P219S	PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	219	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTTTCAGGATTTGAAAAT	0.448																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(655-657)Cct>Tct		pumilio RNA-binding family member 2							84.0	85.0	85.0					2																	20508209		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20508209G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.655C>T	2.37:g.20508209G>A	ENSP00000354370:p.Pro219Ser					PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S|PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S	p.P219S			Q8TB72	PUM2_HUMAN			5	677	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		219			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.655C>T		.	.	.	.	.	.	.	.	.	.	G	14.59	2.581242	0.46006	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.18016	2.31;2.58;2.58;2.24;2.31;2.31	6.07	4.22	0.49857	.	0.151121	0.64402	D	0.000008	T	0.08044	0.0201	N	0.08118	0	0.38222	D	0.94079	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.25882	-1.0119	10	0.21014	T	0.42	-4.9397	8.5974	0.33723	0.0667:0.0:0.5388:0.3945	.	163;219;219	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	219;219;219;110;219;163;219	ENSP00000338173:P219S;ENSP00000354370:P219S;ENSP00000326746:P219S;ENSP00000409905:P110S;ENSP00000385992:P219S;ENSP00000440093:P163S	ENSP00000326746:P219S	P	-	1	0	PUM2	20371690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.825000	0.39081	0.840000	0.34995	0.650000	0.86243	CCT		0.448	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		107	522	0	0	0	1	0	107	522				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				5	27	0	0	0	1	0	5	27				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		7	882	0	0	0	1	0	7	882				
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T	rs370794960		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149									tubulin, beta pseudogene 5																		GGTACGTGCCCCGCGCTGTGC	0.711																																						ENST00000503395.1																			0																																																			0							g.chr9:141070069C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070069C>T														0	1149	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.711	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	187	0	0	0	1	0	5	187				
PTPN12	5782	broad.mit.edu	37	7	77212936	77212936	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:77212936T>G	ENST00000248594.6	+	4	622	c.350T>G	c.(349-351)tTt>tGt	p.F117C	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	117	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GTAATAGATTTTTGGAGGATG	0.299																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(349-351)tTt>tGt		protein tyrosine phosphatase, non-receptor type 12							109.0	110.0	110.0					7																	77212936		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77212936T>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.350T>G	7.37:g.77212936T>G	ENSP00000248594:p.Phe117Cys					PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	p.F117C	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			4	622	+			117			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.350T>G	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.31|18.31	3.594923|3.594923	0.66219|0.66219	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	T|.	0.39997|.	1.05|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.051905|0.051905	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89339|0.89339	0.6687|0.6687	H|H	0.99626|0.99626	4.665|4.665	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.92460|0.92460	0.5977|0.5977	10|7	0.87932|0.87932	D|D	0|0	.|.	10.7297|10.7297	0.46089|0.46089	0.1422:0.0:0.0:0.8578|0.1422:0.0:0.0:0.8578	.|.	117|.	Q05209|.	PTN12_HUMAN|.	C|V	117|80	ENSP00000248594:F117C|.	ENSP00000248594:F117C|ENSP00000430726:F80V	F|F	+|+	2|1	0|0	PTPN12|PTPN12	77050872|77050872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.753000|4.753000	0.62183|0.62183	2.140000|2.140000	0.66376|0.66376	0.482000|0.482000	0.46254|0.46254	TTT|TTT		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			57	278	0	0	0	1	0	57	278				
CLCN6	1185	broad.mit.edu	37	1	11897102	11897102	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:11897102A>G	ENST00000346436.6	+	19	2079	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	676					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACGGAGCCAGTCCATGAAG	0.602																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2026-2028)cAg>cGg		chloride channel, voltage-sensitive 6							70.0	66.0	67.0					1																	11897102		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897102A>G	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2027A>G	1.37:g.11897102A>G	ENSP00000234488:p.Gln676Arg					CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R|CLCN6_ENST00000312413.6_3'UTR	p.Q676R	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2079	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	676					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2027A>G	CCDS138.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664137	0.29604	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91237	-2.8;-2.8;-2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	L	0.34521	1.04	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.004	T	0.80251	-0.1460	10	0.16420	T	0.52	-27.6288	15.1511	0.72700	1.0:0.0:0.0:0.0	.	654;676	F8W9R3;P51797	.;CLCN6_HUMAN	R	676;654;676	ENSP00000234488:Q676R;ENSP00000365670:Q654R;ENSP00000365679:Q676R	ENSP00000234488:Q676R	Q	+	2	0	CLCN6	11819689	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.422000	0.90262	2.189000	0.69895	0.459000	0.35465	CAG		0.602	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		70	219	0	0	0	1	0	70	219				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	54	0	0	0	1	0	6	54				
TTC21A	199223	broad.mit.edu	37	3	39177931	39177931	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:39177931G>A	ENST00000431162.2	+	23	3183	c.3049G>A	c.(3049-3051)Gcc>Acc	p.A1017T	TTC21A_ENST00000301819.6_Missense_Mutation_p.A1018T|TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1017										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGAATTGGCCAAGAAGGT	0.438																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3052-3054)Gcc>Acc		tetratricopeptide repeat domain 21A							138.0	143.0	142.0					3																	39177931		1891	4116	6007	SO:0001583	missense	199223						binding	g.chr3:39177931G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3049G>A	3.37:g.39177931G>A	ENSP00000398211:p.Ala1017Thr					TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.A1017T	p.A1018T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	23	3229	+			1017					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3052G>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175489	0.38413	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54479	0.57;0.57;0.57	4.79	2.7	0.31948	Tetratricopeptide repeat-containing (1);	0.648196	0.14838	N	0.295467	T	0.57095	0.2030	M	0.73430	2.235	0.09310	N	1	B;B;B	0.27416	0.178;0.005;0.003	B;B;B	0.33960	0.173;0.015;0.006	T	0.57370	-0.7823	10	0.66056	D	0.02	-5.5503	13.7973	0.63180	0.0:0.0:0.7115:0.2885	.	969;1018;1017	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	T	1018;1000;1017;969	ENSP00000301819:A1018T;ENSP00000398211:A1017T;ENSP00000410882:A969T	ENSP00000301819:A1018T	A	+	1	0	TTC21A	39152935	1.000000	0.71417	0.027000	0.17364	0.857000	0.48899	1.702000	0.37836	0.990000	0.38787	0.462000	0.41574	GCC		0.438	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		7	439	0	0	0	1	0	7	439				
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:3980040G>C	ENST00000309311.6	-	10	1459	c.1371C>G	c.(1369-1371)taC>taG	p.Y457*	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1369-1371)taC>taG		eukaryotic translation elongation factor 2							43.0	39.0	40.0					19																	3980040		2203	4300	6503	SO:0001587	stop_gained	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980040G>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1371C>G	19.37:g.3980040G>C	ENSP00000307940:p.Tyr457*						p.Y457*	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1459	-		Hepatocellular(1079;0.137)	457					B2RMP5|D6W618|Q58J86	Nonsense_Mutation	SNP	ENST00000309311.6	37	c.1371C>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611568	0.96637	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC		0.627	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		18	110	0	0	0	1	0	18	110				
NPHP3	27031	broad.mit.edu	37	3	132415576	132415576	+	Splice_Site	SNP	G	G	A	rs542131508		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:132415576G>A	ENST00000337331.5	-	15	2256	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	724					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACTCACCGCGCGATCATT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.0		0.0	False		,,,				2504	0.001					ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e15+1		nephronophthisis 3 (adolescent)							154.0	138.0	144.0					3																	132415576		2203	4300	6503	SO:0001630	splice_region_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132415576G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2171+1C>T	3.37:g.132415576G>A						NPHP3_ENST00000326682.8_Intron	p.R724_splice	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			15	2256	-			724					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Splice_Site	SNP	ENST00000337331.5	37	c.2171_splice	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071278	0.20147	.	.	ENSG00000113971	ENST00000337331	T	0.64085	-0.08	5.9	-3.65	0.04502	.	0.566832	0.22573	N	0.058315	T	0.30448	0.0765	N	0.02539	-0.55	0.35234	D	0.777212	B	0.02656	0.0	B	0.01281	0.0	T	0.04373	-1.0956	10	0.45353	T	0.12	-0.0351	11.0565	0.47922	0.6313:0.0:0.2772:0.0916	.	724	Q7Z494	NPHP3_HUMAN	C	724	ENSP00000338766:R724C	ENSP00000338766:R724C	R	-	1	0	NPHP3	133898266	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.361000	0.07612	-0.584000	0.05913	0.650000	0.86243	CGT		0.458	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	Missense_Mutation	204	848	0	0	0	1	0	204	848				
CUBN	8029	broad.mit.edu	37	10	17169885	17169885	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:17169885C>A	ENST00000377833.4	-	3	356	c.291G>T	c.(289-291)ggG>ggT	p.G97G	CUBN_ENST00000377823.1_Silent_p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	97					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTGCACTCCCTTTTAACT	0.323																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(289-291)ggG>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						202.0	199.0	200.0					10																	17169885		2202	4300	6502	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17169885C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.291G>T	10.37:g.17169885C>A						CUBN_ENST00000377823.1_Silent_p.G97G	p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			3	356	-			97					B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.291G>T	CCDS7113.1																																																																																				0.323	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		100	587	1	0	5.77253e-36	1	6.47937e-36	100	587				
PYROXD2	84795	broad.mit.edu	37	10	100157191	100157191	+	Missense_Mutation	SNP	G	G	A	rs568245398	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:100157191G>A	ENST00000370575.4	-	6	584	c.536C>T	c.(535-537)gCg>gTg	p.A179V	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	179							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CACGGGGGCCGCATCCAGCAG	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		22686	0.002		0.0	False		,,,				2504	0.0					ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(535-537)gCg>gTg		pyridine nucleotide-disulphide oxidoreductase domain 2							77.0	68.0	71.0					10																	100157191		2203	4300	6503	SO:0001583	missense	84795						oxidoreductase activity	g.chr10:100157191G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.536C>T	10.37:g.100157191G>A	ENSP00000359607:p.Ala179Val					PYROXD2_ENST00000483923.1_5'UTR	p.A179V	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			6	584	-			179					D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	ENST00000370575.4	37	c.536C>T	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922912	0.18056	.	.	ENSG00000119943	ENST00000370575	T	0.58940	0.3	5.47	2.64	0.31445	.	0.420066	0.29424	N	0.012194	T	0.54143	0.1840	M	0.75447	2.3	0.29975	N	0.81819	B	0.09022	0.002	B	0.06405	0.002	T	0.51585	-0.8687	10	0.32370	T	0.25	-28.5325	10.5055	0.44832	0.2151:0.0:0.7849:0.0	.	179	Q8N2H3	PYRD2_HUMAN	V	179	ENSP00000359607:A179V	ENSP00000359607:A179V	A	-	2	0	PYROXD2	100147181	0.339000	0.24784	0.199000	0.23439	0.516000	0.34256	2.976000	0.49289	0.301000	0.22738	-1.060000	0.02296	GCG		0.572	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		5	372	0	0	0	1	0	5	372				
POM121L9P	29774	broad.mit.edu	37	22	24656904	24656904	+	RNA	SNP	C	C	T	rs201168540	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:24656904C>T	ENST00000414583.2	+	0	1977					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GCTGTTTCAACGCCACCACCA	0.602																																						ENST00000414583.2																			0																																																			0							g.chr22:24656904C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656904C>T								NR_003714.1						0	1977	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.602	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	38	0	0	0	1	0	5	38				
DNAH1	25981	broad.mit.edu	37	3	52387151	52387151	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:52387151C>G	ENST00000420323.2	+	19	3321	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1020	Stem. {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)		TGAAGGAGTTCCAACCCTACC	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3058-3060)ttC>ttG		dynein, axonemal, heavy chain 1							50.0	54.0	52.0					3																	52387151		2085	4219	6304	SO:0001583	missense	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.chr3:52387151C>G	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.3060C>G	3.37:g.52387151C>G	ENSP00000401514:p.Phe1020Leu						p.F1020L	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)	19	3321	+			1020			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3060C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499784	0.85176	.	.	ENSG00000114841	ENST00000420323	T	0.58940	0.3	5.54	4.66	0.58398	.	0.000000	0.56097	D	0.000031	T	0.60907	0.2305	L	0.42632	1.34	0.51012	D	0.999902	D;P	0.76494	0.999;0.931	D;D	0.75484	0.986;0.936	T	0.57171	-0.7857	10	0.05833	T	0.94	.	10.0759	0.42360	0.0:0.8508:0.0:0.1492	.	1020;1020	C9JXH6;Q9P2D7-3	.;.	L	1020	ENSP00000401514:F1020L	ENSP00000401514:F1020L	F	+	3	2	DNAH1	52362191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.810000	0.47979	2.626000	0.88956	0.650000	0.86243	TTC		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	138	0	0	0	1	0	5	138				
PLXNB2	23654	broad.mit.edu	37	22	50728171	50728171	+	Silent	SNP	G	G	A	rs369882286		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:50728171G>A	ENST00000449103.1	-	3	983	c.843C>T	c.(841-843)gcC>gcT	p.A281A	PLXNB2_ENST00000359337.4_Silent_p.A281A			O15031	PLXB2_HUMAN	plexin B2	281	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGAGGCGGCCAGGCAGG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16198	0.0		0.0	False		,,,				2504	0.001					ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(841-843)gcC>gcT		plexin B2		G		0,3956		0,0,1978	29.0	33.0	32.0		843	-9.2	0.0	22		32	1,8299		0,1,4149	no	coding-synonymous	PLXNB2	NM_012401.3		0,1,6127	AA,AG,GG		0.012,0.0,0.0082		281/1839	50728171	1,12255	1978	4150	6128	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728171G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.843C>T	22.37:g.50728171G>A						PLXNB2_ENST00000359337.4_Silent_p.A281A	p.A281A			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	983	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	281			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.843C>T	CCDS43035.1																																																																																				0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		24	138	0	0	0	1	0	24	138				
IGFALS	3483	broad.mit.edu	37	16	1843655	1843655	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:1843655C>A	ENST00000215539.3	-	0	109				IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000415638.3_De_novo_Start_InFrame			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGGCCATCCTGCATGCAGG	0.716																																						ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8								insulin-like growth factor binding protein, acid labile subunit							17.0	15.0	16.0					16																	1843655		2187	4294	6481			3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1843655C>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1843655C>A						IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_De_novo_Start_InFrame		NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			0	78	-								B4DZY8|E9PGU3	Translation_Start_Site	SNP	ENST00000215539.3	37		CCDS10446.1																																																																																				0.716	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			5	31	1	0	0.00198382	1	0.00207171	5	31				
CNKSR2	22866	broad.mit.edu	37	X	21627423	21627423	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:21627423T>C	ENST00000379510.3	+	20	2416	c.2380T>C	c.(2380-2382)Ttc>Ctc	p.F794L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.F764L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	794					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGATTCTGTCTTCTCTGACTC	0.567																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2290-2292)Ttc>Ctc		connector enhancer of kinase suppressor of Ras 2							78.0	75.0	76.0					X																	21627423		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627423T>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2380T>C	X.37:g.21627423T>C	ENSP00000368824:p.Phe794Leu					CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.F794L	p.F764L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2770	+			794					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2290T>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577480	0.28180	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.17691	2.52;2.26;2.27;2.55	5.51	5.51	0.81932	.	0.161421	0.56097	D	0.000028	T	0.17619	0.0423	L	0.60455	1.87	0.47037	D	0.999295	B;B;B;B	0.18610	0.0;0.0;0.008;0.029	B;B;B;B	0.16289	0.002;0.001;0.015;0.008	T	0.06006	-1.0851	10	0.08599	T	0.76	-27.16	14.6111	0.68517	0.0:0.0:0.0:1.0	.	764;745;386;794	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	764;745;794;794	ENSP00000397906:F764L;ENSP00000444633:F745L;ENSP00000279451:F794L;ENSP00000368824:F794L	ENSP00000279451:F794L	F	+	1	0	CNKSR2	21537344	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.187000	0.58344	1.831000	0.53308	0.417000	0.27973	TTC		0.567	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		5	199	0	0	0	1	0	5	199				
MC5R	4161	broad.mit.edu	37	18	13825811	13825811	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:13825811C>T	ENST00000324750.3	+	1	269	c.47C>T	c.(46-48)gCc>gTc	p.A16V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AACCTGAATGCCACAGAGGGC	0.438																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(46-48)gCc>gTc		melanocortin 5 receptor							86.0	84.0	84.0					18																	13825811		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13825811C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.47C>T	18.37:g.13825811C>T	ENSP00000318077:p.Ala16Val						p.A16V	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	269	+			16					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.47C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916374	0.33815	.	.	ENSG00000176136	ENST00000324750	T	0.37235	1.21	5.3	3.51	0.40186	.	1.217370	0.05665	N	0.587595	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22173	-1.0224	10	0.49607	T	0.09	.	6.4409	0.21849	0.0:0.6892:0.1497:0.161	.	16	P33032	MC5R_HUMAN	V	16	ENSP00000318077:A16V	ENSP00000318077:A16V	A	+	2	0	MC5R	13815811	0.001000	0.12720	0.670000	0.29842	0.921000	0.55340	0.478000	0.22212	0.615000	0.30124	0.455000	0.32223	GCC		0.438	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		6	365	0	0	0	1	0	6	365				
LILRB5	10990	broad.mit.edu	37	19	54754989	54754989	+	Intron	SNP	T	T	G	rs686335	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:54754989T>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.E549A|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.E549A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTTTCACCTCGGCATACGT	0.582													.|||	2027	0.404752	0.2761	0.438	5008	,	,		10687	0.6359		0.3608	False		,,,				2504	0.362					ENST00000450632.1																			1	Substitution - Missense(1)	p.E549A(1)	stomach(1)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1645-1647)gAg>gCg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754989T>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-193A>C	19.37:g.54754989T>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron	p.E549A			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1723	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		556					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1646A>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	T	3.271	-0.149196	0.06585	.	.	ENSG00000105609	ENST00000450632	T	0.00479	7.12	2.08	-1.69	0.08186	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.80722	P	0.0	B	0.22746	0.074	B	0.14023	0.01	T	0.37361	-0.9709	7	0.87932	D	0	.	4.7146	0.12889	0.0:0.1283:0.3538:0.5179	rs686335;rs2991756	549	C9JMK7	.	A	549	ENSP00000414225:E549A	ENSP00000414225:E549A	E	-	2	0	LILRB5	59446801	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.263000	0.18478	-1.103000	0.03019	-3.213000	0.00053	GAG		0.582	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			6	59	0	0	0	1	0	6	59				
LIN28B	389421	broad.mit.edu	37	6	105474175	105474175	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:105474175C>A	ENST00000345080.4	+	3	404	c.201C>A	c.(199-201)agC>agA	p.S67R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	67	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTTACAGAGCAAACTATTCA	0.338																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(199-201)agC>agA		lin-28 homolog B (C. elegans)							67.0	76.0	73.0					6																	105474175		2196	4298	6494	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474175C>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.201C>A	6.37:g.105474175C>A	ENSP00000344401:p.Ser67Arg						p.S67R	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			3	404	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	67			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.201C>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783141	0.70222	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.05	0.67936	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.074367	0.85682	D	0.000000	T	0.61160	0.2325	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.66497	0.818;0.944	T	0.65302	-0.6201	9	0.52906	T	0.07	-13.7426	14.9456	0.71029	0.0:0.9318:0.0:0.0682	.	44;67	A7E2T3;Q6ZN17	.;LN28B_HUMAN	R	67	.	ENSP00000344401:S67R	S	+	3	2	LIN28B	105580868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.128000	0.50492	1.499000	0.48617	0.650000	0.86243	AGC		0.338	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		76	350	1	0	2.00396e-56	1	2.2962e-56	76	350				
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(493-495)aaC>aaT		F-box and leucine-rich repeat protein 7							24.0	28.0	27.0					5																	15928366		2118	4226	6344	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928366C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.495C>T	5.37:g.15928366C>T						FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	p.N165N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	976	+			165					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.495C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		19	73	0	0	0	1	0	19	73				
CHRNA9	55584	broad.mit.edu	37	4	40339267	40339267	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:40339267G>A	ENST00000310169.2	+	3	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.R84H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TTGTGGATCCGCCAAATCTGG	0.483																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			1	Substitution - Missense(1)	p.R84H(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(250-252)cGc>cAc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)																																			SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339267G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.251G>A	4.37:g.40339267G>A	ENSP00000312663:p.Arg84His						p.R84H	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			3	390	+			84					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.251G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045322	0.93685	.	.	ENSG00000174343	ENST00000310169	T	0.80214	-1.35	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.046822	0.85682	D	0.000000	D	0.90937	0.7151	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91105	0.4917	10	0.66056	D	0.02	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	84	Q9UGM1	ACHA9_HUMAN	H	84	ENSP00000312663:R84H	ENSP00000312663:R84H	R	+	2	0	CHRNA9	40034024	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	CGC		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			5	146	0	0	0	1	0	5	146				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		10	115	0	0	0	1	0	10	115				
L3MBTL4	91133	broad.mit.edu	37	18	6239823	6239823	+	Missense_Mutation	SNP	C	C	T	rs199523434		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:6239823C>T	ENST00000284898.6	-	9	801	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.V201M|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	201					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCCTGTCCACGGCCTCCAGC	0.463																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(601-603)Gtg>Atg		l(3)mbt-like 4 (Drosophila)							129.0	107.0	114.0					18																	6239823		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6239823C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.601G>A	18.37:g.6239823C>T	ENSP00000284898:p.Val201Met					L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V201M	p.V201M			Q8NA19	LMBL4_HUMAN			9	801	-		Colorectal(10;0.0249)	201					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.601G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095859	0.56075	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.35	-1.99	0.07457	.	0.485871	0.17200	N	0.183141	T	0.65616	0.2708	H	0.95982	3.75	0.09310	N	1	D;D	0.89917	1.0;0.967	D;P	0.68483	0.958;0.636	T	0.60702	-0.7211	10	0.87932	D	0	.	10.7292	0.46087	0.0:0.4918:0.0:0.5082	.	201;201	Q8NA19;F8W9S8	LMBL4_HUMAN;.	M	201;201;201;14;201	ENSP00000382976:V201M;ENSP00000318543:V201M;ENSP00000284898:V201M;ENSP00000444774:V14M;ENSP00000382975:V201M	ENSP00000284898:V201M	V	-	1	0	L3MBTL4	6229823	0.017000	0.18338	0.002000	0.10522	0.857000	0.48899	0.514000	0.22786	-0.856000	0.04120	-0.469000	0.05056	GTG		0.463	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		5	318	0	0	0	1	0	5	318				
FAT3	120114	broad.mit.edu	37	11	92532543	92532543	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:92532543G>A	ENST00000298047.6	+	9	6381	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - Missense(2)	p.V2122L(2)	lung(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6364-6366)Gtc>Atc		FAT atypical cadherin 3							47.0	47.0	47.0					11																	92532543		1905	4128	6033	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532543G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6364G>A	11.37:g.92532543G>A	ENSP00000298047:p.Val2122Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I	p.V2122I			Q8TDW7	FAT3_HUMAN			9	6381	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2122			Cadherin 19.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6364G>A		.	.	.	.	.	.	.	.	.	.	G	6.771	0.511125	0.12883	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.9	0.248	0.15526	.	.	.	.	.	T	0.00936	0.0031	N	0.12853	0.265	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53464	-0.8435	9	0.23302	T	0.38	.	0.7489	0.00987	0.2335:0.2878:0.2715:0.2072	.	2122	Q8TDW7-3	.	I	2122;2122;1972	ENSP00000298047:V2122I;ENSP00000387040:V2122I;ENSP00000432586:V1972I	ENSP00000298047:V2122I	V	+	1	0	FAT3	92172191	0.011000	0.17503	0.983000	0.44433	0.964000	0.63967	0.949000	0.29109	0.412000	0.25729	-0.136000	0.14681	GTC		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		23	106	0	0	0	1	0	23	106				
SLC12A7	10723	broad.mit.edu	37	5	1074737	1074737	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:1074737C>A	ENST00000264930.5	-	16	2060	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	673					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGTAGCGGGCGGCGTTCAGG	0.672																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2017-2019)Gcc>Tcc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						57.0	53.0	55.0					5																	1074737		2202	4298	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1074737C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2017G>T	5.37:g.1074737C>A	ENSP00000264930:p.Ala673Ser						p.A673S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		16	2060	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		673					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2017G>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.40|18.40	3.616049|3.616049	0.66672|0.66672	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.98862|.	-5.19|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Amino acid permease domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84097|0.84097	0.5397|0.5397	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88363|0.88363	0.2989|0.2989	10|5	0.87932|.	D|.	0|.	.|.	14.1738|14.1738	0.65527|0.65527	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	673|.	Q9Y666|.	S12A7_HUMAN|.	S|L	673|30	ENSP00000264930:A673S|.	ENSP00000264930:A673S|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1127737|1127737	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.045000|0.045000	0.14185|0.14185	6.881000|6.881000	0.75584|0.75584	1.996000|1.996000	0.58369|0.58369	0.313000|0.313000	0.20887|0.20887	GCC|CGC		0.672	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		38	163	1	0	5.20006e-24	1	5.75846e-24	38	163				
FOXF1	2294	broad.mit.edu	37	16	86544569	86544569	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:86544569T>C	ENST00000262426.4	+	1	437	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	132					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGAGTTCATGTTCGAGGAGGG	0.632																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(394-396)Ttc>Ctc		forkhead box F1							64.0	79.0	74.0					16																	86544569		2197	4298	6495	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544569T>C	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.394T>C	16.37:g.86544569T>C	ENSP00000262426:p.Phe132Leu						p.F132L	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	437	+			132					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.394T>C	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.887395	0.91814	.	.	ENSG00000103241	ENST00000262426	T	0.36340	1.26	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.45285	1.41	0.80722	D	1	D	0.55605	0.972	D	0.66716	0.946	T	0.52563	-0.8559	10	0.87932	D	0	.	12.9875	0.58599	0.0:0.0:0.0:1.0	.	132	Q12946	FOXF1_HUMAN	L	132	ENSP00000262426:F132L	ENSP00000262426:F132L	F	+	1	0	FOXF1	85102070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	1.668000	0.50843	0.528000	0.53228	TTC		0.632	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		139	444	0	0	0	1	0	139	444				
C3	718	broad.mit.edu	37	19	6694601	6694601	+	Missense_Mutation	SNP	G	G	A	rs370052728		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:6694601G>A	ENST00000245907.6	-	24	3087	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGCTTCAGCCGTTCCGCGTCG	0.622																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2995-2997)Cgg>Tgg		complement component 3							74.0	61.0	65.0					19																	6694601		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694601G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2995C>T	19.37:g.6694601G>A	ENSP00000245907:p.Arg999Trp						p.R999W	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3087	-			999					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2995C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913948	0.52546	.	.	ENSG00000125730	ENST00000245907	T	0.37584	1.19	5.67	4.61	0.57282	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.519800	0.21650	N	0.071200	T	0.32704	0.0838	N	0.08118	0	0.20926	N	0.999829	D	0.76494	0.999	P	0.58620	0.842	T	0.13683	-1.0500	10	0.72032	D	0.01	.	10.8984	0.47036	0.0:0.0:0.6435:0.3565	.	999	P01024	CO3_HUMAN	W	999	ENSP00000245907:R999W	ENSP00000245907:R999W	R	-	1	2	C3	6645601	0.290000	0.24343	0.988000	0.46212	0.150000	0.21749	1.655000	0.37345	2.693000	0.91896	0.650000	0.86243	CGG		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		29	227	0	0	0	1	0	29	227				
OPCML	4978	broad.mit.edu	37	11	132307148	132307148	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:132307148G>A	ENST00000331898.7	-	4	1210	c.632C>T	c.(631-633)cCc>cTc	p.P211L	OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCGCACATCGGGCGCAGCGAC	0.542																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(631-633)cCc>cTc		opioid binding protein/cell adhesion molecule-like							129.0	114.0	119.0					11																	132307148		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307148G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.632C>T	11.37:g.132307148G>A	ENSP00000330862:p.Pro211Leu					OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L	p.P211L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	1210	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	211			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.632C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825927	0.71143	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.59224	0.29;0.28;1.19;1.19	5.95	5.95	0.96441	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.997	T	0.78640	-0.2125	10	0.87932	D	0	-13.4278	19.9958	0.97383	0.0:0.0:1.0:0.0	.	211;204;210;211	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	211;204;170;178;211	ENSP00000330862:P211L;ENSP00000434750:P204L;ENSP00000363910:P170L;ENSP00000445496:P211L	ENSP00000330862:P211L	P	-	2	0	OPCML	131812358	1.000000	0.71417	0.320000	0.25306	0.040000	0.13550	9.476000	0.97823	2.825000	0.97269	0.655000	0.94253	CCC		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		39	294	0	0	0	1	0	39	294				
XIST	7503	broad.mit.edu	37	X	73062286	73062286	+	lincRNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:73062286C>A	ENST00000429829.1	-	0	10302					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAGAATGGTTCTTGTCCCCAG	0.408																																						ENST00000429829.1																			0																				18.0	17.0	17.0					X																	73062286		874	1986	2860			0							g.chrX:73062286C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062286C>A								NR_001564.2						0	10302	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.408	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		3	42	1	0	0.004672	1	0.0048483	3	42				
ASNSD1	54529	broad.mit.edu	37	2	190535201	190535201	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:190535201C>T	ENST00000260952.4	+	6	2094	c.1681C>T	c.(1681-1683)Cta>Tta	p.L561L	ASNSD1_ENST00000607062.1_Silent_p.L80L	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	561	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCTCCTTTCTAAATTCTCT	0.353																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(1681-1683)Cta>Tta		asparagine synthetase domain containing 1							69.0	72.0	71.0					2																	190535201		2203	4300	6503	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190535201C>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1681C>T	2.37:g.190535201C>T						ASNSD1_ENST00000607062.1_Silent_p.L80L	p.L561L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		6	2094	+			561			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.1681C>T	CCDS2300.1																																																																																				0.353	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		97	410	0	0	0	1	0	97	410				
OR51A4	401666	broad.mit.edu	37	11	4967400	4967400	+	Missense_Mutation	SNP	G	G	A	rs2436782	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:4967400G>A	ENST00000380373.2	-	1	956	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	311			R -> W (in dbSNP:rs2436782).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAATCTTCCGTTGACACAAT	0.343																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(931-933)Cgg>Tgg		olfactory receptor, family 51, subfamily A, member 4		A	TRP/ARG	3,4395	4.2+/-10.8	0,3,2196	124.0	124.0	124.0		931	0.4	0.0	11	dbSNP_100	124	18,8578	14.0+/-48.4	0,18,4280	no	missense	OR51A4	NM_001005329.1	101	0,21,6476	AA,AG,GG		0.2094,0.0682,0.1616	possibly-damaging	311/314	4967400	21,12973	2199	4298	6497	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967400G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.931C>T	11.37:g.4967400G>A	ENSP00000369731:p.Arg311Trp					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.R311W	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	956	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	311		R -> W (in dbSNP:rs2436782).				Missense_Mutation	SNP	ENST00000380373.2	37	c.931C>T	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	g	10.02	1.237288	0.22711	6.82E-4	0.002094	ENSG00000205497	ENST00000380373	T	0.39229	1.09	2.89	0.41	0.16387	.	.	.	.	.	T	0.33030	0.0849	L	0.49513	1.565	0.09310	N	1	D	0.62365	0.991	B	0.42653	0.394	T	0.23332	-1.0191	9	0.72032	D	0.01	.	4.1905	0.10419	0.1952:0.0:0.2262:0.5786	rs2436782	311	Q8NGJ6	O51A4_HUMAN	W	311	ENSP00000369731:R311W	ENSP00000369731:R311W	R	-	1	2	OR51A4	4923976	0.445000	0.25657	0.000000	0.03702	0.001000	0.01503	0.923000	0.28757	-0.031000	0.13781	-1.442000	0.01069	CGG		0.343	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		28	811	0	0	0	1	0	28	811				
ZNF536	9745	broad.mit.edu	37	19	31038886	31038886	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:31038886C>T	ENST00000355537.3	+	4	2507	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	787					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.A787D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGACTATGCCGGCACGCAG	0.512																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.A787D(1)	lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2359-2361)gCc>gTc		zinc finger protein 536							65.0	68.0	67.0					19																	31038886		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038886C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2360C>T	19.37:g.31038886C>T	ENSP00000347730:p.Ala787Val						p.A787V	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2507	+	Esophageal squamous(110;0.0834)		787					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2360C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372690	0.82573	.	.	ENSG00000198597	ENST00000355537	T	0.13778	2.56	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25332	0.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01218	-1.1415	10	0.72032	D	0.01	-31.1218	20.6721	0.99693	0.0:1.0:0.0:0.0	.	787;787	A7E228;O15090	.;ZN536_HUMAN	V	787	ENSP00000347730:A787V	ENSP00000347730:A787V	A	+	2	0	ZNF536	35730726	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.481000	0.81124	2.894000	0.99253	0.591000	0.81541	GCC		0.512	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	398	0	0	0	1	0	5	398				
MYH4	4622	broad.mit.edu	37	17	10352050	10352050	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:10352050C>A	ENST00000255381.2	-	32	4526	c.4416G>T	c.(4414-4416)gaG>gaT	p.E1472D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1472					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGGAGGCCTCAAGTTCAG	0.448																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4414-4416)gaG>gaT		myosin, heavy chain 4, skeletal muscle							86.0	87.0	87.0					17																	10352050		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352050C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4416G>T	17.37:g.10352050C>A	ENSP00000255381:p.Glu1472Asp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1472D	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			32	4526	-			1472						Missense_Mutation	SNP	ENST00000255381.2	37	c.4416G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545239	0.45280	.	.	ENSG00000141048	ENST00000255381	T	0.77229	-1.08	4.97	0.598	0.17512	Myosin tail (1);	0.000000	0.37577	U	0.002040	T	0.66819	0.2828	L	0.35249	1.045	0.38463	D	0.947264	B	0.28760	0.221	B	0.37015	0.239	T	0.56625	-0.7948	10	0.23302	T	0.38	.	9.7593	0.40522	0.0:0.6205:0.0:0.3795	.	1472	Q9Y623	MYH4_HUMAN	D	1472	ENSP00000255381:E1472D	ENSP00000255381:E1472D	E	-	3	2	MYH4	10292775	0.001000	0.12720	0.997000	0.53966	0.973000	0.67179	-1.559000	0.02162	0.222000	0.20900	0.561000	0.74099	GAG		0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	311	1	0	5.9392e-07	1	6.32237e-07	5	311				
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGGAGTATGCCGAGGAGGAGG	0.512																																						ENST00000564451.1																			0																																																			0							g.chr16:90162579C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162579C>T						TUBB8P7_ENST00000567960.1_RNA								0	1932	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	555	0	0	0	1	0	8	555				
SYMPK	8189	broad.mit.edu	37	19	46357673	46357673	+	Silent	SNP	G	G	A	rs374626694		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:46357673G>A	ENST00000245934.7	-	2	325	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	27	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCATGCCATCGATGCCCGGCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20064	0.0		0.0	False		,,,				2504	0.001					ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(79-81)atC>atT		symplekin		G		0,4284		0,0,2142	62.0	65.0	64.0		81	-8.7	0.8	19		64	1,8475		0,1,4237	no	coding-synonymous	SYMPK	NM_004819.2		0,1,6379	AA,AG,GG		0.0118,0.0,0.0078		27/1275	46357673	1,12759	2142	4238	6380	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46357673G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.81C>T	19.37:g.46357673G>A							p.I27I	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	2	325	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	27			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.81C>T	CCDS12676.2																																																																																				0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		4	188	0	0	0	1	0	4	188				
ATP5O	539	broad.mit.edu	37	21	35281465	35281465	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:35281465C>T	ENST00000290299.2	-	4	465	c.249G>A	c.(247-249)gtG>gtA	p.V83V	AP000304.12_ENST00000429238.1_Missense_Mutation_p.E32K	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	83					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TGGAACGCTTCACATAGGGAT	0.368																																						ENST00000429238.1																			0											c.(94-96)Gaa>Aaa									99.0	89.0	93.0					21																	35281465		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:35281465C>T	AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	850	protein-coding gene	gene with protein product	"""oligomycin sensitivity conferring protein"""	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.249G>A	21.37:g.35281465C>T						ATP5O_ENST00000290299.2_Silent_p.V83V	p.E32K							2	93	-								B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	ENST00000290299.2	37	c.94G>A	CCDS13634.1	.	.	.	.	.	.	.	.	.	.	C	7.061	0.566329	0.13560	.	.	ENSG00000249209	ENST00000429238	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.29976	0.0750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39165	-0.9627	4	.	.	.	-28.5225	0.4541	0.00506	0.2592:0.2488:0.266:0.226	.	.	.	.	K	32	.	.	E	-	1	0	AP000304.12	34203335	0.001000	0.12720	0.002000	0.10522	0.717000	0.41224	-1.870000	0.01641	-2.262000	0.00690	-0.188000	0.12872	GAA		0.368	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139907.1	NM_001697		63	269	0	0	0	1	0	63	269				
ANKRD11	29123	broad.mit.edu	37	16	89350085	89350085	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:89350085C>A	ENST00000301030.4	-	9	3325	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	ANKRD11_ENST00000378330.2_Silent_p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	955	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCAGCTCTCCAGGGCGTCCT	0.612																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2863-2865)ctG>ctT		ankyrin repeat domain 11							79.0	86.0	83.0					16																	89350085		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350085C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2865G>T	16.37:g.89350085C>A						ANKRD11_ENST00000378330.2_Silent_p.L955L	p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3325	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	955			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.2865G>T	CCDS32513.1																																																																																				0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		111	381	1	0	6.46527e-39	1	7.30664e-39	111	381				
ATP6V1H	51606	broad.mit.edu	37	8	54684564	54684564	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:54684564C>T	ENST00000359530.2	-	10	1297	c.1034G>A	c.(1033-1035)aGt>aAt	p.S345N	ATP6V1H_ENST00000523899.1_5'Flank|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.S327N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	345					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTCCTGGACACTCTCTCCAAG	0.373																																						ENST00000355221.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(979-981)aGt>aAt		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H							128.0	120.0	123.0					8																	54684564		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54684564C>T	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1034G>A	8.37:g.54684564C>T	ENSP00000352522:p.Ser345Asn					ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.S345N	p.S327N	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		9	1539	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	345					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.980G>A	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835276	0.71373	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.46567	1.45	0.80722	D	1	P;P	0.40360	0.68;0.714	P;B	0.44946	0.465;0.414	T	0.50800	-0.8785	9	0.15952	T	0.53	-20.9211	19.3551	0.94408	0.0:1.0:0.0:0.0	.	327;345	Q9UI12-2;Q9UI12	.;VATH_HUMAN	N	327;305;345;345	.	ENSP00000347359:S327N	S	-	2	0	ATP6V1H	54847117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.639000	0.89480	0.609000	0.83330	AGT		0.373	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		126	311	0	0	0	1	0	126	311				
GRM8	2918	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A	rs537365104		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.T528M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18363	0.0		0.0	False		,,,				2504	0.001					ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1582-1584)aCg>aTg		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						85.0	85.0	85.0					7																	126173853		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173853G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1583C>T	7.37:g.126173853G>A	ENSP00000344173:p.Thr528Met	HNSCC(24;0.065)				GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M	p.T528M			O00222	GRM8_HUMAN			9	2391	-		Prostate(267;0.186)	528					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1583C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497514	0.04291	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89617	-2.54;-2.54;-2.54	5.8	4.92	0.64577	GPCR, family 3, nine cysteines domain (1);	0.100013	0.64402	D	0.000001	T	0.74261	0.3693	N	0.03999	-0.3	0.80722	D	1	B;B	0.16166	0.013;0.016	B;B	0.22880	0.002;0.042	T	0.69075	-0.5241	10	0.02654	T	1	.	14.0626	0.64808	0.0721:0.0:0.9279:0.0	.	528;528	O00222-2;O00222	.;GRM8_HUMAN	M	528	ENSP00000344173:T528M;ENSP00000409790:T528M;ENSP00000351142:T528M	ENSP00000344173:T528M	T	-	2	0	GRM8	125961089	0.754000	0.28360	0.709000	0.30452	0.984000	0.73092	1.180000	0.32005	1.468000	0.48064	0.643000	0.83706	ACG		0.542	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			53	363	0	0	0	1	0	53	363				
TTN	7273	broad.mit.edu	37	2	179455476	179455476	+	Missense_Mutation	SNP	C	C	T	rs370995867		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:179455476C>T	ENST00000591111.1	-	254	56277	c.56053G>A	c.(56053-56055)Gct>Act	p.A18685T	TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A20326T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18685	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTCAGCGATAGGTGTT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60976-60978)Gct>Act		titin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3812		0,0,1906	138.0	132.0	134.0		34357,34156,53272,33781	0.8	0.0	2		134	1,8267		0,1,4133	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	58,58,58,58	0,1,6039	TT,TC,CC		0.0121,0.0,0.0083	benign,benign,benign,benign	11453/27119,11386/27052,17758/33424,11261/26927	179455476	1,12079	1906	4134	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455476C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56053G>A	2.37:g.179455476C>T	ENSP00000465570:p.Ala18685Thr					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18685T|TTN-AS1_ENST00000589907.1_RNA	p.A20326T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61200	-			18685			Fibronectin type-III 47.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60976G>A		.	.	.	.	.	.	.	.	.	.	C	6.198	0.404659	0.11754	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.11	0.782	0.18567	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35158	0.0922	N	0.13352	0.335	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.28396	-1.0045	9	0.87932	D	0	.	11.1443	0.48422	0.0:0.2701:0.5822:0.1477	.	11261;11386;11453;18685	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	17758;11261;11453;11386;11259	ENSP00000343764:A17758T;ENSP00000434586:A11261T;ENSP00000340554:A11453T;ENSP00000352154:A11386T	ENSP00000340554:A11453T	A	-	1	0	TTN	179163722	0.086000	0.21541	0.001000	0.08648	0.796000	0.44982	0.327000	0.19663	-0.131000	0.11578	0.655000	0.94253	GCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	484	0	0	0	1	0	7	484				
PYHIN1	149628	broad.mit.edu	37	1	158914733	158914733	+	Silent	SNP	G	G	A	rs150828296	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:158914733G>A	ENST00000368140.1	+	7	1505	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PYHIN1_ENST00000392252.3_Silent_p.Q411Q|PYHIN1_ENST00000392254.2_Silent_p.Q420Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	420					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACAGAGTCAGCATCCAAAAC	0.458																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1258-1260)caG>caA		pyrin and HIN domain family, member 1							120.0	114.0	116.0					1																	158914733		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158914733G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1260G>A	1.37:g.158914733G>A						PYHIN1_ENST00000392254.2_Silent_p.Q420Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392252.3_Silent_p.Q411Q	p.Q420Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			7	1505	+	all_hematologic(112;0.0378)		420					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.1260G>A	CCDS1178.1																																																																																				0.458	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		5	360	0	0	0	1	0	5	360				
CFAP61	26074	broad.mit.edu	37	20	20056245	20056245	+	Silent	SNP	C	C	T	rs116838168	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:20056245C>T	ENST00000245957.5	+	6	628	c.552C>T	c.(550-552)caC>caT	p.H184H	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		184										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCAGCTGCACGTTCGCAAAG	0.478													C|||	16	0.00319489	0.0121	0.0	5008	,	,		19569	0.0		0.0	False		,,,				2504	0.0					ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(550-552)caC>caT		chromosome 20 open reading frame 26		C	,	18,4388	28.1+/-56.4	0,18,2185	140.0	129.0	133.0		552,552	-0.5	0.1	20	dbSNP_132	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C20orf26	NM_001167816.1,NM_015585.3	,	0,18,6485	TT,TC,CC		0.0,0.4085,0.1384	,	184/471,184/1238	20056245	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20056245C>T																												ENST00000245957.5:c.552C>T	20.37:g.20056245C>T						C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.H184H	p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	628	+			184					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.552C>T	CCDS33447.1																																																																																				0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			92	437	0	0	0	1	0	92	437				
ARFGAP1	55738	broad.mit.edu	37	20	61906986	61906986	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:61906986G>T	ENST00000370283.4	+	2	194	c.54G>T	c.(52-54)gaG>gaT	p.E18D	ARFGAP1_ENST00000547204.1_5'UTR|NKAIN4_ENST00000370307.2_5'Flank|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.E18D	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	18	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TGCAGGATGAGAACAACGTAA	0.517																																						ENST00000370275.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(52-54)gaG>gaT		ADP-ribosylation factor GTPase activating protein 1							56.0	54.0	54.0					20																	61906986		2202	4299	6501	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61906986G>T	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.54G>T	20.37:g.61906986G>T	ENSP00000359306:p.Glu18Asp					ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E18D|ARFGAP1_ENST00000547204.1_5'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D	p.E18D			Q8N6T3	ARFG1_HUMAN			2	146	+	all_cancers(38;1.59e-09)		18			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.54G>T	CCDS13515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.379|2.379	-0.342631|-0.342631	0.05243|0.05243	.|.	.|.	ENSG00000101199|ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188|ENST00000519604	T;T;T;T;T;T|T	0.46819|0.46063	0.86;0.86;0.86;0.86;0.86;0.86|0.88	4.78|4.78	0.0115|0.0115	0.14087|0.14087	.|.	0.057039|.	0.64402|.	N|.	0.000002|.	T|T	0.34890|0.34890	0.0913|0.0913	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	B;B;B|B	0.10296|0.29955	0.003;0.0;0.0|0.263	B;B;B|P	0.17098|0.46208	0.017;0.009;0.005|0.507	T|T	0.32534|0.32534	-0.9903|-0.9903	10|9	0.21014|0.87932	T|D	0.42|0	-0.3684|-0.3684	5.8773|5.8773	0.18836|0.18836	0.328:0.1544:0.5176:0.0|0.328:0.1544:0.5176:0.0	.|.	18;18;18|2	B7ZBI2;Q8N6T3;Q8N6T3-2|E7EV62	.;ARFG1_HUMAN;.|.	D|I	18|2	ENSP00000359306:E18D;ENSP00000428355:E18D;ENSP00000359298:E18D;ENSP00000314615:E18D;ENSP00000430929:E18D;ENSP00000449515:E18D|ENSP00000430500:R2I	ENSP00000314615:E18D|ENSP00000430500:R2I	E|R	+|+	3|2	2|0	ARFGAP1|ARFGAP1	61377431|61377431	0.998000|0.998000	0.40836|0.40836	0.900000|0.900000	0.35374|0.35374	0.053000|0.053000	0.15095|0.15095	0.412000|0.412000	0.21131|0.21131	-0.161000|-0.161000	0.10983|0.10983	-0.379000|-0.379000	0.06801|0.06801	GAG|AGA		0.517	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		4	141	1	0	0.217242	1	0.217242	4	141				
CFAP54	144535	broad.mit.edu	37	12	97112291	97112291	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:97112291C>T	ENST00000524981.4	+	49	6818	c.6795C>T	c.(6793-6795)agC>agT	p.S2265S				Q96N23	CL055_HUMAN		0																	TCACTCTTAGCATGCTAAAGG	0.343																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2146-2148)agC>agT									60.0	62.0	62.0					12																	97112291		2201	4298	6499	SO:0001819	synonymous_variant	0							g.chr12:97112291C>T																												ENST00000524981.4:c.6795C>T	12.37:g.97112291C>T							p.S716S			Q6ZTY8	CL063_HUMAN			16	2148	+			690						Silent	SNP	ENST00000524981.4	37	c.2148C>T																																																																																					0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			62	299	0	0	0	1	0	62	299				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			11	94	0	0	0	1	0	11	94				
SPESP1	246777	broad.mit.edu	37	15	69238112	69238112	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:69238112A>G	ENST00000310673.3	+	2	393	c.239A>G	c.(238-240)cAt>cGt	p.H80R	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	80					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTAGTTACACATGGAGACGCT	0.403																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(238-240)cAt>cGt		sperm equatorial segment protein 1							103.0	104.0	104.0					15																	69238112		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238112A>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.239A>G	15.37:g.69238112A>G	ENSP00000312284:p.His80Arg					NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	p.H80R	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	393	+			80					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.239A>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	A	1.739	-0.492198	0.04322	.	.	ENSG00000258484	ENST00000310673	T	0.20738	2.05	4.62	-1.08	0.09936	.	0.742875	0.11558	N	0.552026	T	0.14614	0.0353	L	0.32530	0.975	0.09310	N	1	B	0.32160	0.358	B	0.33521	0.165	T	0.25779	-1.0122	10	0.41790	T	0.15	-0.9374	7.6284	0.28226	0.3289:0.5445:0.0:0.1265	.	80	Q6UW49	SPESP_HUMAN	R	80	ENSP00000312284:H80R	ENSP00000312284:H80R	H	+	2	0	SPESP1	67025166	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.104000	0.15313	-0.050000	0.13356	-0.313000	0.08912	CAT		0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		9	414	0	0	0	1	0	9	414				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162637	33162637	+	lincRNA	SNP	C	C	T	rs1842247	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:33162637C>T	ENST00000510327.1	-	0	346																											TGTCCCACTACGTGCTGCCCC	0.468													C|||	137	0.0273562	0.0998	0.0043	5008	,	,		19228	0.0		0.002	False		,,,				2504	0.0					ENST00000510327.1																			0																																																			0							g.chr5:33162637C>T																													5.37:g.33162637C>T														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.468	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			17	115	0	0	0	1	0	17	115				
SIGLEC1	6614	broad.mit.edu	37	20	3687258	3687258	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:3687258C>T	ENST00000344754.4	-	2	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	49	Ig-like V-type.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCACCTCCACGTCGGCAGGG	0.672																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(145-147)Gtg>Atg		sialic acid binding Ig-like lectin 1, sialoadhesin							23.0	18.0	20.0					20																	3687258		2202	4299	6501	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3687258C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.145G>A	20.37:g.3687258C>T	ENSP00000341141:p.Val49Met					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			2	144	-			49			Ig-like V-type.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.145G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926139	0.52759	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.22336	1.96;1.96	5.01	1.48	0.22813	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.207799	0.24185	N	0.040780	T	0.36908	0.0984	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.09207	-1.0685	10	0.62326	D	0.03	.	3.7683	0.08632	0.0:0.5395:0.1965:0.2641	.	49;49	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	49	ENSP00000341141:V49M;ENSP00000202578:V49M	ENSP00000202578:V49M	V	-	1	0	SIGLEC1	3635258	0.133000	0.22466	0.002000	0.10522	0.058000	0.15608	0.940000	0.28992	0.416000	0.25844	0.563000	0.77884	GTG		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	64	0	0	0	1	0	3	64				
SGIP1	84251	broad.mit.edu	37	1	67147855	67147855	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:67147855C>T	ENST00000371037.4	+	15	1195	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTACTATCGCCGCTCAATTTA	0.542																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1117-1119)cCg>cTg		SH3-domain GRB2-like (endophilin) interacting protein 1							78.0	96.0	90.0					1																	67147855		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147855C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1118C>T	1.37:g.67147855C>T	ENSP00000360076:p.Pro373Leu					SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	p.P373L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1195	+			373			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1118C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068566	0.76301	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03152	4.03;4.03	5.19	4.26	0.50523	.	0.113033	0.64402	D	0.000010	T	0.07369	0.0186	L	0.47716	1.5	0.80722	D	1	D;B	0.89917	1.0;0.014	D;B	0.79108	0.992;0.005	T	0.13229	-1.0517	10	0.52906	T	0.07	-9.3174	13.4763	0.61310	0.0:0.9243:0.0:0.0757	.	376;373	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	377;376;376;373	ENSP00000237247:P377L;ENSP00000360076:P373L	ENSP00000237247:P377L	P	+	2	0	SGIP1	66920443	0.996000	0.38824	1.000000	0.80357	0.965000	0.64279	4.809000	0.62591	2.570000	0.86706	0.455000	0.32223	CCG		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		119	427	0	0	0	1	0	119	427				
MT-CYB	4519	broad.mit.edu	37	M	15615	15615	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrM:15615G>A	ENST00000361789.2	+	1	869	c.869G>A	c.(868-870)gGc>gAc	p.G290D	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	290			G -> D (in exercise intolerance). {ECO:0000269|PubMed:8910895}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CAAACTAGGAGGCGTCCTTGC	0.463											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(868-870)gGc>gAc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15615G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.869G>A	M.37:g.15615G>A	ENSP00000354554:p.Gly290Asp		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.290_290insD							1	869	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.869G>A																																																																																					0.463	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		3	14	0	0	0	1	0	3	14				
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	141	Substitution - Missense(141)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)cAa>cGa		Kirsten rat sarcoma viral oncogene homolog							109.0	97.0	101.0					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	373	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		67	297	0	0	0	1	0	67	297				
SLC9C1	285335	broad.mit.edu	37	3	112005603	112005603	+	Silent	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:112005603A>G	ENST00000305815.5	-	2	288	c.36T>C	c.(34-36)acT>acC	p.T12T	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.T12T	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	12					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGAGGTCCTCAGTACTGAAAA	0.353																																						ENST00000305815.5																			0											c.(34-36)acT>acC		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							64.0	64.0	64.0					3																	112005603		2203	4298	6501	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:112005603A>G	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.36T>C	3.37:g.112005603A>G						SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.T12T	p.T12T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			2	288	-			12					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.36T>C	CCDS33817.1																																																																																				0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		8	235	0	0	0	1	0	8	235				
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs200646249		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A3V(3)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCGCAGGGCGGGCATCTT	0.746			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		3	Substitution - Missense(3)	p.A3V(3)	prostate(2)|lung(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7-9)gCc>gTc		notch 2																																				SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612013G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.8C>T	1.37:g.120612013G>A	ENSP00000256646:p.Ala3Val						p.A3V	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	227	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	3					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.8C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843499	0.51057	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	2.9	0.774	0.18521	.	.	.	.	.	T	0.62636	0.2444	N	0.19112	0.55	0.23776	N	0.996877	D;D	0.57571	0.98;0.98	P;P	0.53988	0.739;0.739	T	0.56323	-0.7998	9	0.72032	D	0.01	.	8.5976	0.33725	0.0:0.4687:0.5313:0.0	.	3;3	Q6IQ50;Q04721	.;NOTC2_HUMAN	V	3	ENSP00000256646:A3V	ENSP00000256646:A3V	A	-	2	0	NOTCH2	120413536	1.000000	0.71417	0.999000	0.59377	0.618000	0.37518	0.744000	0.26245	0.074000	0.16767	0.184000	0.17185	GCC		0.746	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	62	0	0	0	1	0	4	62				
TMX3	54495	broad.mit.edu	37	18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(148-150)gCg>gTg		thioredoxin-related transmembrane protein 3							55.0	49.0	51.0					18																	66377374		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66377374G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.149C>T	18.37:g.66377374G>A	ENSP00000299608:p.Ala50Val					TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			4	465	-			50			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.149C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916459	0.92249	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.10192	2.9;2.9;2.9	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61352	-0.7080	10	0.87932	D	0	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	50;50;50	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	V	50	ENSP00000299608:A50V;ENSP00000444954:A50V;ENSP00000402605:A50V	ENSP00000299608:A50V	A	-	2	0	TMX3	64528354	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.738000	0.98835	2.619000	0.88677	0.563000	0.77884	GCG		0.323	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		4	181	0	0	0	1	0	4	181				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	300	1	0	4.096e-09	1	4.44632e-09	6	300				
AHNAK2	113146	broad.mit.edu	37	14	105413912	105413912	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105413912C>T	ENST00000333244.5	-	7	7995	c.7876G>A	c.(7876-7878)Gat>Aat	p.D2626N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2626						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCGCACCATCCAGCTTTGCT	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7876-7878)Gat>Aat		AHNAK nucleoprotein 2							165.0	179.0	174.0					14																	105413912		1916	4110	6026	SO:0001583	missense	113146					nucleus		g.chr14:105413912C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7876G>A	14.37:g.105413912C>T	ENSP00000353114:p.Asp2626Asn					AHNAK2_ENST00000557457.1_Intron	p.D2626N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7995	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2626					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7876G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.120665	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	2.6	2.6	0.31112	.	.	.	.	.	T	0.02156	0.0067	M	0.70903	2.155	0.09310	N	1	P	0.40834	0.73	B	0.34385	0.181	T	0.42582	-0.9443	9	0.21540	T	0.41	.	4.3944	0.11356	0.0:0.7139:0.0:0.2861	.	2626	Q8IVF2	AHNK2_HUMAN	N	2626	ENSP00000353114:D2626N	ENSP00000353114:D2626N	D	-	1	0	AHNAK2	104484957	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.581000	0.05820	1.000000	0.39049	0.306000	0.20318	GAT		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	1268	0	0	0	1	0	9	1268				
NBPF1	55672	broad.mit.edu	37	1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					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)		ACTGCCTCCAGCAGCTCCCTG	0.493																																						ENST00000430580.2																			0											c.(2908-2910)Ctg>Gtg		neuroblastoma breakpoint family, member 1							25.0	21.0	22.0					1																	16892284		1481	2588	4069	SO:0001583	missense	55672					cytoplasm		g.chr1:16892284G>C	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.2908C>G	1.37:g.16892284G>C	ENSP00000474456:p.Leu970Val						p.L970V	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)	27	3795	-			970			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2908C>G																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		15	1831	0	0	0	1	0	15	1831				
PCDHGB3	56102	broad.mit.edu	37	5	140751953	140751953	+	Silent	SNP	C	C	T	rs376952769		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1990-1992)ttC>ttT				C	,,,,,,,,	0,4224		0,0,2112	67.0	73.0	71.0		,,,,,,,1992,1992	-1.0	0.5	5		71	1,8487		0,1,4243	no	intron,intron,intron,intron,intron,intron,intron,coding-synonymous,coding-synonymous	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032097.1	,,,,,,,,	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,	,,,,,,,664/930,664/815	140751953	1,12711	2112	4244	6356	SO:0001819	synonymous_variant	0							g.chr5:140751953C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1992C>T	5.37:g.140751953C>T						PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.F664F	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2123	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1992C>T	CCDS58980.1																																																																																				0.607	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		72	297	0	0	0	1	0	72	297				
TMC5	79838	broad.mit.edu	37	16	19488791	19488791	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:19488791G>A	ENST00000396229.2	+	13	2869	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	707					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATCATTGGCATTCTTTGT	0.383																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2119-2121)gGc>gAc		transmembrane channel-like 5							247.0	228.0	234.0					16																	19488791		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488791G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2120G>A	16.37:g.19488791G>A	ENSP00000379531:p.Gly707Asp					TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D|CTA-363E6.6_ENST00000561762.1_RNA	p.G707D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			13	2869	+			707					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2120G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537353	0.65085	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.69561	-0.41;-0.03;-0.03;-0.03;-0.03	4.33	4.33	0.51752	.	0.193755	0.43579	D	0.000559	T	0.81781	0.4895	M	0.81802	2.56	0.51233	D	0.99991	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.998;0.999;1.0	D;D;D;D;D;D	0.81914	0.992;0.954;0.982;0.94;0.981;0.995	T	0.82625	-0.0365	10	0.38643	T	0.18	-14.3434	16.7528	0.85490	0.0:0.0:1.0:0.0	.	655;390;461;461;707;707	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	D	655;707;707;707;461;390	ENSP00000441227:G655D;ENSP00000370822:G707D;ENSP00000379531:G707D;ENSP00000446274:G707D;ENSP00000219821:G461D	ENSP00000219821:G461D	G	+	2	0	TMC5	19396292	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	7.615000	0.83006	2.112000	0.64535	0.655000	0.94253	GGC		0.383	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		111	493	0	0	0	1	0	111	493				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	612	0	0	0	1	0	6	612				
IGHV4-61	28391	broad.mit.edu	37	14	107095380	107095380	+	RNA	SNP	A	A	G	rs565067056	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:107095380A>G	ENST00000390630.2	-	0	200				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGGGTCTCCGAAGGCTTCACC	0.637													.|||	16	0.00319489	0.0008	0.0014	5008	,	,		7759	0.0		0.0	False		,,,				2504	0.0143					ENST00000390630.2																			0																				14.0	31.0	26.0					14																	107095380		1561	3856	5417			0							g.chr14:107095380A>G	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095380A>G														0	200	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.637	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		4	157	0	0	0	1	0	4	157				
CFH	3075	broad.mit.edu	37	1	196709747	196709747	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:196709747A>T	ENST00000367429.4	+	18	3022		c.e18-1			NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTTTTTTTTAGGCCTTCCTT	0.303																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.e18-1		complement factor H							82.0	83.0	83.0					1																	196709747		2203	4300	6503	SO:0001630	splice_region_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709747A>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2783-1A>T	1.37:g.196709747A>T								NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3022	+								A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Splice_Site	SNP	ENST00000367429.4	37		CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	8.179	0.793443	0.16327	.	.	ENSG00000000971	ENST00000367429	.	.	.	6.16	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.727	0.40337	0.846:0.0:0.0:0.154	.	.	.	.	.	-1	.	.	.	+	.	.	CFH	194976370	0.996000	0.38824	0.701000	0.30321	0.005000	0.04900	4.603000	0.61105	1.117000	0.41842	0.528000	0.53228	.		0.303	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	Intron	7	603	0	0	0	1	0	7	603				
CTDSP1	58190	broad.mit.edu	37	2	219266400	219266400	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:219266400C>T	ENST00000273062.2	+	2	517	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CTDSP1_ENST00000488627.1_3'UTR|RP11-378A13.2_ENST00000608367.1_RNA|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	61					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGGGCGCCCCTGCTTGT	0.667																																						ENST00000273062.2																			0				NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(181-183)Ccc>Tcc		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1							30.0	29.0	29.0					2																	219266400		2203	4300	6503	SO:0001583	missense	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219266400C>T	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.181C>T	2.37:g.219266400C>T	ENSP00000273062:p.Pro61Ser					CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	517	+		Renal(207;0.0915)	61					C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.181C>T	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561410	0.65538	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.14144	2.53;2.55	5.08	4.19	0.49359	.	0.061117	0.64402	D	0.000003	T	0.19725	0.0474	M	0.74467	2.265	0.58432	D	0.999999	B;B	0.17852	0.024;0.024	B;B	0.26202	0.024;0.067	T	0.03060	-1.1077	10	0.44086	T	0.13	-16.6294	12.6141	0.56567	0.0:0.9192:0.0:0.0807	.	61;61	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	S	61	ENSP00000392248:P61S;ENSP00000273062:P61S	ENSP00000273062:P61S	P	+	1	0	CTDSP1	218974644	0.543000	0.26434	0.924000	0.36721	0.734000	0.41952	3.105000	0.50314	2.362000	0.80069	0.655000	0.94253	CCC		0.667	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		36	126	0	0	0	1	0	36	126				
DMRT2	10655	broad.mit.edu	37	9	1056510	1056510	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:1056510A>G	ENST00000358146.2	+	3	923	c.923A>G	c.(922-924)gAt>gGt	p.D308G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.D308G|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	308					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ACCTGCCTTGATTTAACCATG	0.458																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(922-924)gAt>gGt		doublesex and mab-3 related transcription factor 2							86.0	88.0	87.0					9																	1056510		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056510A>G	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.923A>G	9.37:g.1056510A>G	ENSP00000350865:p.Asp308Gly					DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.D308G	p.D308G			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1252	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	308					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.923A>G	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753973	0.69648	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.34275	1.37;1.37;1.37	5.62	5.62	0.85841	.	0.289079	0.38663	N	0.001609	T	0.57755	0.2075	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.965;0.984	T	0.61108	-0.7129	10	0.87932	D	0	-21.4324	15.5071	0.75748	1.0:0.0:0.0:0.0	.	308;152	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	308	ENSP00000371686:D308G;ENSP00000305785:D308G;ENSP00000350865:D308G	ENSP00000305785:D308G	D	+	2	0	DMRT2	1046510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.730000	0.91510	2.153000	0.67306	0.528000	0.53228	GAT		0.458	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		51	242	0	0	0	1	0	51	242				
ACTG2	72	broad.mit.edu	37	2	74146664	74146664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:74146664G>T	ENST00000409624.1	+	10	1736	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*|ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	365					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TGAGTATGATGAGGCAGGGCC	0.532																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(1093-1095)Gag>Tag		actin, gamma 2, smooth muscle, enteric							77.0	75.0	76.0					2																	74146664		2203	4300	6503	SO:0001587	stop_gained	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146664G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1093G>T	2.37:g.74146664G>T	ENSP00000386857:p.Glu365*					ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*|ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*	p.E365*			P63267	ACTH_HUMAN			10	1736	+			365					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Nonsense_Mutation	SNP	ENST00000409624.1	37	c.1093G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.762352	0.96906	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	.	.	.	4.8	4.8	0.61643	.	0.502454	0.17436	N	0.174289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1435	0.86760	0.0:0.0:1.0:0.0	.	.	.	.	X	322;365;365	.	ENSP00000295137:E365X	E	+	1	0	ACTG2	74000172	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.601000	0.98297	2.651000	0.90000	0.591000	0.81541	GAG		0.532	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		6	299	1	0	0.0215528	1	0.0219519	6	299				
DNAH11	8701	broad.mit.edu	37	7	21640427	21640427	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:21640427G>A	ENST00000409508.3	+	16	3165	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1045Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1045	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGATGATCGAGCTGAGTTT	0.448									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3133-3135)cGa>cAa		dynein, axonemal, heavy chain 11							187.0	182.0	183.0					7																	21640427		1972	4152	6124	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640427G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3134G>A	7.37:g.21640427G>A	ENSP00000475939:p.Arg1045Gln					DNAH11_ENST00000409508.3_Missense_Mutation_p.R1045Q	p.R1045Q			Q96DT5	DYH11_HUMAN			16	3165	+			1045			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3134G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.762115	0.69763	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.23	5.23	0.72850	.	0.280795	0.30639	N	0.009182	T	0.35537	0.0935	.	.	.	0.46317	D	0.998987	D	0.76494	0.999	P	0.55615	0.78	T	0.02320	-1.1177	9	0.23891	T	0.37	.	13.1616	0.59547	0.0791:0.0:0.9209:0.0	.	1045	Q96DT5	DYH11_HUMAN	Q	1045	ENSP00000330671:R1045Q	ENSP00000330671:R1045Q	R	+	2	0	DNAH11	21606952	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	4.241000	0.58707	2.452000	0.82932	0.551000	0.68910	CGA		0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		136	763	0	0	0	1	0	136	763				
ACTRT1	139741	broad.mit.edu	37	X	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(769-771)Caa>Taa		actin-related protein T1							125.0	114.0	118.0					X																	127185417		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185417G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.769C>T	X.37:g.127185417G>A	ENSP00000360165:p.Gln257*						p.Q257*	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	965	-			257					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.769C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811660	0.50527	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.58	0.589	0.17452	.	0.537891	0.16370	N	0.217347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9033	0.41362	0.0:0.0:0.4788:0.5212	.	.	.	.	X	257	.	ENSP00000360165:Q257X	Q	-	1	0	ACTRT1	127013098	1.000000	0.71417	0.001000	0.08648	0.023000	0.10783	1.058000	0.30504	0.001000	0.14605	0.600000	0.82982	CAA		0.542	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		6	416	0	0	0	1	0	6	416				
CHD8	57680	broad.mit.edu	37	14	21875121	21875121	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:21875121C>G	ENST00000557364.1	-	14	3064	c.2801G>C	c.(2800-2802)tGt>tCt	p.C934S	CHD8_ENST00000430710.3_Missense_Mutation_p.C655S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.C934S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	934	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTCAGGACAATCTGACAA	0.438																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2800-2802)tGt>tCt		chromodomain helicase DNA binding protein 8							65.0	61.0	62.0					14																	21875121		1966	4149	6115	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21875121C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2801G>C	14.37:g.21875121C>G	ENSP00000451601:p.Cys934Ser					CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S|CHD8_ENST00000557364.1_Missense_Mutation_p.C934S	p.C934S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	13	2865	-	all_cancers(95;0.00121)		934			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2801G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.542986|4.542986	0.86022|0.86022	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.93019|.	-3.15;-3.15;-3.15|.	5.41|5.41	5.41|5.41	0.78517|0.78517	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.02334|0.02334	-0.595|-0.595	0.80722|0.80722	D|D	1|1	B;P|.	0.36633|.	0.236;0.562|.	B;B|.	0.43950|.	0.345;0.437|.	T|T	0.30357|0.30357	-0.9981|-0.9981	10|5	0.27785|.	T|.	0.31|.	-17.6138|-17.6138	18.1343|18.1343	0.89612|0.89612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	934;655|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	S|F	655;934;654;934|159	ENSP00000406288:C655S;ENSP00000382863:C934S;ENSP00000451601:C934S|.	ENSP00000262707:C654S|.	C|L	-|-	2|3	0|2	CHD8|CHD8	20944961|20944961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.932000|5.932000	0.70121|0.70121	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	TGT|TTG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		16	82	0	0	0	1	0	16	82				
MALT1	10892	broad.mit.edu	37	18	56401610	56401610	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:56401610C>T	ENST00000348428.3	+	12	1730	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.A480V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	491	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTGGATATGCCACGTAAGAA	0.403			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(1471-1473)gCc>gTc		mucosa associated lymphoid tissue lymphoma translocation gene 1							133.0	114.0	120.0					18																	56401610		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56401610C>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1472C>T	18.37:g.56401610C>T	ENSP00000319279:p.Ala491Val					MALT1_ENST00000345724.3_Missense_Mutation_p.A480V|RP11-126O1.4_ENST00000588835.1_RNA	p.A491V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			12	1730	+			491			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1472C>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609673	0.96637	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.56611	0.45;0.45	5.88	5.88	0.94601	Peptidase C14, caspase catalytic (1);	0.046173	0.85682	D	0.000000	T	0.78168	0.4241	M	0.88570	2.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.81450	-0.0927	10	0.87932	D	0	.	19.0095	0.92867	0.0:1.0:0.0:0.0	.	480;491	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	491;480	ENSP00000319279:A491V;ENSP00000304161:A480V	ENSP00000304161:A480V	A	+	2	0	MALT1	54552590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.779000	0.95612	0.650000	0.86243	GCC		0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			4	218	0	0	0	1	0	4	218				
ACTL9	284382	broad.mit.edu	37	19	8807951	8807951	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:8807951G>C	ENST00000324436.3	-	1	1221	c.1101C>G	c.(1099-1101)caC>caG	p.H367Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	367						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCACCACCACGTGGGTCTCGG	0.677																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1099-1101)caC>caG		actin-like 9							25.0	28.0	27.0					19																	8807951		2203	4298	6501	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807951G>C		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1101C>G	19.37:g.8807951G>C	ENSP00000316674:p.His367Gln						p.H367Q	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1221	-			367					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1101C>G	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	3.006	-0.204896	0.06180	.	.	ENSG00000181786	ENST00000324436	T	0.07444	3.19	4.51	2.29	0.28610	.	0.738936	0.11482	U	0.559628	T	0.05227	0.0139	N	0.17564	0.495	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.38243	-0.9670	10	0.87932	D	0	.	3.6914	0.08347	0.088:0.316:0.4331:0.1629	.	367	Q8TC94	ACTL9_HUMAN	Q	367	ENSP00000316674:H367Q	ENSP00000316674:H367Q	H	-	3	2	ACTL9	8668951	0.001000	0.12720	0.084000	0.20598	0.088000	0.18126	0.676000	0.25247	0.604000	0.29930	-0.482000	0.04802	CAC		0.677	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		28	156	0	0	0	1	0	28	156				
AMY2A	279	broad.mit.edu	37	1	104160198	104160198	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:104160198T>G	ENST00000414303.2	+	1	200	c.136T>G	c.(136-138)Tat>Gat	p.Y46D		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	46					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ATGTGAGCGATATTTAGCTCC	0.423																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Tat>Gat		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						276.0	228.0	244.0					1																	104160198		2201	4279	6480	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160198T>G	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.136T>G	1.37:g.104160198T>G	ENSP00000397582:p.Tyr46Asp						p.Y46D	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	200	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	46					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.136T>G	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	15.43|15.43	2.831461|2.831461	0.50845|0.50845	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.99663	.|-6.33	3.22|3.22	3.22|3.22	0.36961|0.36961	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.056220	.|0.64402	.|D	.|0.000001	D|D	0.99462|0.99462	0.9809|0.9809	M|M	0.82132|0.82132	2.575|2.575	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.97110	.|1.0;0.985	D|D	0.98570|0.98570	1.0645|1.0645	5|10	.|0.87932	.|D	.|0	.|.	11.6147|11.6147	0.51083|0.51083	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|46;46	.|B9EJG1;P04746	.|.;AMYP_HUMAN	R|D	44|46	.|ENSP00000397582:Y46D	.|ENSP00000377509:Y46D	I|Y	+|+	2|1	0|0	AMY2A|AMY2A	103961721|103961721	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.474000|0.474000	0.32979|0.32979	7.267000|7.267000	0.78462|0.78462	1.455000|1.455000	0.47813|0.47813	0.374000|0.374000	0.22700|0.22700	ATA|TAT		0.423	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		319	1040	0	0	0	1	0	319	1040				
PLXNC1	10154	broad.mit.edu	37	12	94620456	94620456	+	Silent	SNP	C	C	T	rs139278274	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:94620456C>T	ENST00000258526.4	+	8	2115	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	622					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACAGCTTGCGACCCTTCTG	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0					ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1864-1866)tgC>tgT		plexin C1		C		6,4400	12.9+/-30.5	0,6,2197	172.0	165.0	167.0		1866	-5.5	0.0	12	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	PLXNC1	NM_005761.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		622/1569	94620456	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94620456C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1866C>T	12.37:g.94620456C>T							p.C622C	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			8	2115	+			622					Q59H25	Silent	SNP	ENST00000258526.4	37	c.1866C>T	CCDS9049.1																																																																																				0.483	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			5	451	0	0	0	1	0	5	451				
ZNF790	388536	broad.mit.edu	37	19	37310991	37310991	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:37310991C>A	ENST00000356725.4	-	5	375	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTAATAACTTCTTGGTCTGAC	0.323																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(253-255)aaG>aaT		zinc finger protein 790							50.0	51.0	51.0					19																	37310991		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310991C>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.255G>T	19.37:g.37310991C>A	ENSP00000349161:p.Lys85Asn					CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	p.K85N	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	375	-	Esophageal squamous(110;0.183)		85						Missense_Mutation	SNP	ENST00000356725.4	37	c.255G>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851037	0.17034	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.07327	3.2;6.04;5.63	3.08	3.08	0.35506	.	.	.	.	.	T	0.09862	0.0242	L	0.50333	1.59	0.09310	N	1	P	0.41313	0.745	B	0.41202	0.35	T	0.16482	-1.0401	9	0.52906	T	0.07	.	7.5937	0.28035	0.2541:0.7459:0.0:0.0	.	85	Q6PG37	ZN790_HUMAN	N	85	ENSP00000349161:K85N;ENSP00000435944:K85N;ENSP00000433389:K85N	ENSP00000349161:K85N	K	-	3	2	ZNF790	42002831	0.000000	0.05858	0.115000	0.21578	0.254000	0.26022	0.138000	0.16016	1.708000	0.51301	0.484000	0.47621	AAG		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		11	354	1	0	1.41608e-15	1	1.55769e-15	11	354				
LILRB5	10990	broad.mit.edu	37	19	54754990	54754990	+	Intron	SNP	C	C	G	rs686334	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:54754990C>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.E549Q|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTTTCACCTCGGCATACGTC	0.582													.|||	1559	0.311302	0.1793	0.353	5008	,	,		10666	0.5337		0.2644	False		,,,				2504	0.2791					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1645-1647)Gag>Cag		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754990C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-194G>C	19.37:g.54754990C>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron	p.E549Q			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1722	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		556					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1645G>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.540057	0.00143	.	.	ENSG00000105609	ENST00000450632	T	0.00417	7.5	2.08	-0.201	0.13212	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.80722	P	0.0	B	0.09022	0.002	B	0.04013	0.001	T	0.21930	-1.0231	7	0.02654	T	1	.	4.4782	0.11753	0.0:0.2526:0.4908:0.2567	rs686334;rs2991755	549	C9JMK7	.	Q	549	ENSP00000414225:E549Q	ENSP00000414225:E549Q	E	-	1	0	LILRB5	59446802	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	0.163000	0.16520	0.034000	0.15491	-1.952000	0.00485	GAG		0.582	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			6	60	0	0	0	1	0	6	60				
NEIL2	252969	broad.mit.edu	37	8	11637109	11637109	+	Silent	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:11637109C>G	ENST00000284503.6	+	3	740	c.141C>G	c.(139-141)gtC>gtG	p.V47V	NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000403422.3_5'UTR	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	47					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTTTCTAGGTCCATGGAAAGA	0.468								Base excision repair (BER), DNA glycosylases																														ENST00000284503.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(139-141)gtC>gtG	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 2 (E. coli)							56.0	70.0	65.0					8																	11637109		2200	4296	6496	SO:0001819	synonymous_variant	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637109C>G	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.141C>G	8.37:g.11637109C>G						NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_5'UTR	p.V47V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	740	+	all_epithelial(15;0.103)		47					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Silent	SNP	ENST00000284503.6	37	c.141C>G	CCDS5984.1																																																																																				0.468	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		136	437	0	0	0	1	0	136	437				
NCAM1	4684	broad.mit.edu	37	11	113078701	113078701	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:113078701C>T	ENST00000533760.1	+	7	1138	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V|NCAM1_ENST00000316851.7_Missense_Mutation_p.A288V	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	298	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGCAGGATGCGACCATCCAC	0.537																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(862-864)gCg>gTg		neural cell adhesion molecule 1							50.0	51.0	51.0					11																	113078701		2071	4217	6288	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113078701C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.539C>T	11.37:g.113078701C>T	ENSP00000473281:p.Ala180Val					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.A180V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V	p.A288V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	863	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	298			Ig-like C2-type 3.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.863C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.105555	0.77096	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.71	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205034	0.50627	D	0.000106	T	0.72293	0.3442	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.97	P;P;P;P;B	0.51657	0.612;0.612;0.609;0.676;0.329	T	0.75260	-0.3380	9	0.56958	D	0.05	-40.4986	15.5067	0.75745	0.1389:0.8611:0.0:0.0	.	298;298;298;298;298	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	V	180;297;288	ENSP00000384055:A297V;ENSP00000318472:A288V	ENSP00000318472:A288V	A	+	2	0	NCAM1	112583911	0.996000	0.38824	0.946000	0.38457	0.966000	0.64601	4.470000	0.60175	2.710000	0.92621	0.655000	0.94253	GCG		0.537	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		4	60	0	0	0	1	0	4	60				
KRT76	51350	broad.mit.edu	37	12	53170526	53170526	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:53170526G>A	ENST00000332411.2	-	1	603	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCTGTTCCCGCTCCTGGGCC	0.557																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(550-552)Cgg>Tgg		keratin 76							106.0	112.0	110.0					12																	53170526		2203	4298	6501	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170526G>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.550C>T	12.37:g.53170526G>A	ENSP00000330101:p.Arg184Trp						p.R184W	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	603	-			184			Coil 1A.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.550C>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271171	0.59649	.	.	ENSG00000185069	ENST00000332411	D	0.90261	-2.64	4.2	1.28	0.21552	Filament (1);	0.187921	0.26140	N	0.026104	D	0.95201	0.8444	M	0.87547	2.89	0.35775	D	0.821214	D	0.89917	1.0	D	0.97110	1.0	D	0.96746	0.9550	10	0.87932	D	0	.	13.7626	0.62975	0.0:0.0:0.2799:0.7201	.	184	Q01546	K22O_HUMAN	W	184	ENSP00000330101:R184W	ENSP00000330101:R184W	R	-	1	2	KRT76	51456793	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	1.734000	0.38166	0.284000	0.22305	-0.372000	0.07161	CGG		0.557	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		7	522	0	0	0	1	0	7	522				
ADAMTS4	9507	broad.mit.edu	37	1	161166670	161166670	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:161166670G>A	ENST00000367996.5	-	2	1062	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Splice_Site_p.R212C|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	212					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAAGCAAAGCGCTGTAGAGAA	0.527																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.e2-1		ADAM metallopeptidase with thrombospondin type 1 motif, 4							120.0	125.0	123.0					1																	161166670		2203	4300	6503	SO:0001630	splice_region_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166670G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.634-1C>T	1.37:g.161166670G>A						ADAMTS4_ENST00000367995.3_Splice_Site_p.R212_splice	p.R212_splice	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1062	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		212					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Splice_Site	SNP	ENST00000367996.5	37	c.633_splice	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989431	0.74589	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.76839	-0.51;-1.05	4.64	4.64	0.57946	Metallopeptidase, catalytic domain (1);	0.197716	0.32548	N	0.005951	T	0.75287	0.3829	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;0.982	D;P	0.83275	0.996;0.75	T	0.79671	-0.1706	10	0.87932	D	0	.	11.7012	0.51571	0.0:0.0:0.823:0.177	.	212;212	Q5VTW1;O75173	.;ATS4_HUMAN	C	212	ENSP00000356975:R212C;ENSP00000356974:R212C	ENSP00000356974:R212C	R	-	1	0	ADAMTS4	159433294	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.564000	0.67359	2.418000	0.82041	0.650000	0.86243	CGC		0.527	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	Missense_Mutation	164	769	0	0	0	1	0	164	769				
AHNAK2	113146	broad.mit.edu	37	14	105412337	105412337	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105412337G>A	ENST00000333244.5	-	7	9570	c.9451C>T	c.(9451-9453)Ccg>Tcg	p.P3151S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9451-9453)Ccg>Tcg		AHNAK nucleoprotein 2							197.0	138.0	157.0					14																	105412337		1926	4055	5981	SO:0001583	missense	113146					nucleus		g.chr14:105412337G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9451C>T	14.37:g.105412337G>A	ENSP00000353114:p.Pro3151Ser					AHNAK2_ENST00000557457.1_Intron	p.P3151S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9570	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3151					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9451C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.15	1.553486	0.27739	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.29	3.29	0.37713	.	.	.	.	.	T	0.23649	0.0572	M	0.93106	3.38	0.35976	D	0.8357	D	0.89917	1.0	D	0.87578	0.998	T	0.48790	-0.9004	9	0.52906	T	0.07	.	14.1401	0.65313	0.0:0.0:1.0:0.0	.	3151	Q8IVF2	AHNK2_HUMAN	S	3151	ENSP00000353114:P3151S	ENSP00000353114:P3151S	P	-	1	0	AHNAK2	104483382	0.998000	0.40836	0.775000	0.31657	0.006000	0.05464	2.062000	0.41413	1.372000	0.46190	0.313000	0.20887	CCG		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	816	0	0	0	1	0	7	816				
PLAA	9373	broad.mit.edu	37	9	26919394	26919394	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:26919394A>G	ENST00000397292.3	-	9	1748	c.1331T>C	c.(1330-1332)cTg>cCg	p.L444P	PLAA_ENST00000520884.1_Missense_Mutation_p.L444P|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	444	PFU. {ECO:0000255|PROSITE- ProRule:PRU00727}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TACTTGATCCAGAAACATAGG	0.353																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1330-1332)cTg>cCg		phospholipase A2-activating protein							134.0	138.0	136.0					9																	26919394		2203	4297	6500	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26919394A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1331T>C	9.37:g.26919394A>G	ENSP00000380460:p.Leu444Pro					PLAA_ENST00000520884.1_Missense_Mutation_p.L444P|PLAA_ENST00000520641.1_5'UTR	p.L444P	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	9	1748	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	444			PFU.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1331T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212242	0.79240	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.61627	0.09;0.23	5.53	5.53	0.82687	PLAA family ubiquitin binding, PFU (2);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85613	0.1259	10	0.72032	D	0.01	-5.71	15.6677	0.77242	1.0:0.0:0.0:0.0	.	444;444	E5RIM3;Q9Y263	.;PLAP_HUMAN	P	444	ENSP00000380460:L444P;ENSP00000429372:L444P	ENSP00000380460:L444P	L	-	2	0	PLAA	26909394	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.059000	0.76684	2.092000	0.63282	0.482000	0.46254	CTG		0.353	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		16	586	0	0	0	1	0	16	586				
MMP9	4318	broad.mit.edu	37	20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTGGCCCCGGCATTCAGGGA	0.602																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(589-591)gGc>gAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						86.0	80.0	82.0					20																	44639630		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639630G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.590G>A	20.37:g.44639630G>A	ENSP00000361405:p.Gly197Asp						p.G197D	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			4	609	+		Myeloproliferative disorder(115;0.0122)	197					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.590G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125006	0.94429	.	.	ENSG00000100985	ENST00000372330	T	0.23754	1.89	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.76328	2.33	0.80722	D	1	P	0.40660	0.726	P	0.53649	0.731	T	0.50642	-0.8804	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	197	P14780	MMP9_HUMAN	D	197	ENSP00000361405:G197D	ENSP00000361405:G197D	G	+	2	0	MMP9	44073037	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GGC		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			7	398	0	0	0	1	0	7	398				
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:7578555C>A	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>T	17.37:g.7578555C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370877	0.61624	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	34	79	1	0	1.414e-09	1	1.5451e-09	34	79				
NOTUM	147111	broad.mit.edu	37	17	79914915	79914915	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:79914915C>T	ENST00000409678.3	-	7	1114	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	244				R -> L (in Ref. 1; AAH36872). {ECO:0000305}.		extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCAGCCACACGGTCCACATT	0.662																																						ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(730-732)cGt>cAt		notum pectinacetylesterase homolog (Drosophila)							61.0	52.0	55.0					17																	79914915		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79914915C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.731G>A	17.37:g.79914915C>T	ENSP00000387310:p.Arg244His						p.R244H	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1114	-	all_neural(118;0.0878)|Ovarian(332;0.12)		244	R -> L (in Ref. 1; AAH36872).				Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.731G>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724700	0.30593	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.54	3.56	0.40772	.	0.302720	0.37483	N	0.002071	T	0.43255	0.1239	L	0.39245	1.2	0.43994	D	0.996693	B	0.28258	0.205	B	0.28139	0.086	T	0.44817	-0.9303	9	0.48119	T	0.1	.	5.0317	0.14413	0.1749:0.6566:0.0:0.1686	.	244	Q6P988	NOTUM_HUMAN	H	244	.	ENSP00000387310:R244H	R	-	2	0	NOTUM	77508205	0.958000	0.32768	0.998000	0.56505	0.611000	0.37282	2.080000	0.41586	2.055000	0.61198	0.313000	0.20887	CGT		0.662	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		25	127	0	0	0	1	0	25	127				
TLL2	7093	broad.mit.edu	37	10	98157035	98157035	+	Missense_Mutation	SNP	G	G	A	rs142713663	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:98157035G>A	ENST00000357947.3	-	11	1517	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	431	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGGGGCTCCGGGATCTTATC	0.577																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1291-1293)cCg>cTg		tolloid-like 2		G	LEU/PRO	0,4406		0,0,2203	53.0	49.0	50.0		1292	5.1	0.5	10	dbSNP_134	50	9,8591	7.1+/-27.0	0,9,4291	yes	missense	TLL2	NM_012465.3	98	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging	431/1016	98157035	9,12997	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157035G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1292C>T	10.37:g.98157035G>A	ENSP00000350630:p.Pro431Leu					TLL2_ENST00000469598.1_5'UTR	p.P431L	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1517	-		Colorectal(252;0.0846)	431			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1292C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868544	0.72065	0.0	0.001047	ENSG00000095587	ENST00000357947	T	0.39406	1.08	5.11	5.11	0.69529	CUB (5);	0.000000	0.45361	D	0.000368	T	0.72590	0.3479	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76716	-0.2857	10	0.40728	T	0.16	.	17.7077	0.88313	0.0:0.0:1.0:0.0	.	431	Q9Y6L7	TLL2_HUMAN	L	431	ENSP00000350630:P431L	ENSP00000350630:P431L	P	-	2	0	TLL2	98147025	1.000000	0.71417	0.486000	0.27416	0.177000	0.22998	9.464000	0.97655	2.654000	0.90174	0.650000	0.86243	CCG		0.577	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			20	165	0	0	0	1	0	20	165				
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	614	0	0	0	1	0	6	614				
ADAMTS2	9509	broad.mit.edu	37	5	178541162	178541162	+	Silent	SNP	G	G	A	rs79606317		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:178541162G>A	ENST00000251582.7	-	22	3443	c.3342C>T	c.(3340-3342)aaC>aaT	p.N1114N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1114					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1114N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCAATGTCGTTGTGCTTCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19030	0.001		0.0	False		,,,				2504	0.0					ENST00000251582.7																			1	Substitution - coding silent(1)	p.N1114N(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3340-3342)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	192.0	148.0	163.0		3342	-7.7	0.7	5	dbSNP_131	163	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADAMTS2	NM_014244.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1114/1212	178541162	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541162G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3342C>T	5.37:g.178541162G>A							p.N1114N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3443	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1114						Silent	SNP	ENST00000251582.7	37	c.3342C>T	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		13	243	0	0	0	1	0	13	243				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	17	0	0	0	1	0	3	17				
TEP1	7011	broad.mit.edu	37	14	20869179	20869179	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20869179G>A	ENST00000262715.5	-	9	1553	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	505	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTCCCCCGTAGGCTCAGC	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1513-1515)Cgg>Tgg		telomerase-associated protein 1							142.0	117.0	125.0					14																	20869179		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20869179G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1513C>T	14.37:g.20869179G>A	ENSP00000262715:p.Arg505Trp					TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	p.R505W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	9	1553	-	all_cancers(95;0.00123)	all_lung(585;0.235)	505			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1513C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860278	0.51482	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.15718	2.4;2.4	5.71	2.77	0.32553	TROVE (2);	0.542528	0.20377	N	0.093526	T	0.17789	0.0427	M	0.64997	1.995	0.20307	N	0.999916	B;B	0.22346	0.022;0.068	B;B	0.17722	0.008;0.019	T	0.18335	-1.0340	10	0.87932	D	0	-9.617	8.5605	0.33507	0.0721:0.0:0.4738:0.4541	.	397;505	G3V5X7;Q99973	.;TEP1_HUMAN	W	505;505;397	ENSP00000262715:R505W;ENSP00000452574:R397W	ENSP00000262715:R505W	R	-	1	2	TEP1	19939019	0.002000	0.14202	0.333000	0.25482	0.410000	0.31052	0.233000	0.17911	0.752000	0.32923	0.555000	0.69702	CGG		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	300	0	0	0	1	0	4	300				
ZNF709	163051	broad.mit.edu	37	19	12576048	12576048	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:12576048C>T	ENST00000397732.3	-	4	859	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACGTTTTCCCGCATTCTTTA	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(688-690)Ggg>Agg		zinc finger protein 709							102.0	106.0	104.0					19																	12576048		2197	4300	6497	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576048C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.688G>A	19.37:g.12576048C>T	ENSP00000380840:p.Gly230Arg					ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R|CTD-3105H18.18_ENST00000598753.1_Intron	p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	859	-			230					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.688G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397133	0.62177	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.03524	3.9;3.9	2.4	0.0633	0.14348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34676	N	0.003765	T	0.12732	0.0309	M	0.77616	2.38	0.30398	N	0.780325	D	0.89917	1.0	D	0.78314	0.991	T	0.01972	-1.1237	10	0.66056	D	0.02	.	6.0058	0.19544	0.0:0.6798:0.1959:0.1243	.	230	Q8N972	ZN709_HUMAN	R	230	ENSP00000380840:G230R;ENSP00000404127:G230R	ENSP00000404127:G230R	G	-	1	0	ZNF709;CTD-2192J16.17	12437048	0.059000	0.20769	0.201000	0.23476	0.396000	0.30629	1.548000	0.36201	0.097000	0.17492	0.313000	0.20887	GGG		0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		126	564	0	0	0	1	0	126	564				
DSG3	1830	broad.mit.edu	37	18	29049139	29049139	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:29049139G>A	ENST00000257189.4	+	12	1807	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAACAATCGGTGTGAGATG	0.527																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1723-1725)cGg>cAg		desmoglein 3							151.0	136.0	141.0					18																	29049139		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29049139G>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1724G>A	18.37:g.29049139G>A	ENSP00000257189:p.Arg575Gln						p.R575Q	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1807	+			575					A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1724G>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462788	0.26248	.	.	ENSG00000134757	ENST00000257189	T	0.58060	0.36	5.95	-11.9	0.00025	.	1.487420	0.04727	N	0.420484	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05852	-1.0860	10	0.14252	T	0.57	.	8.0923	0.30807	0.1856:0.0:0.3465:0.4679	.	575	P32926	DSG3_HUMAN	Q	575	ENSP00000257189:R575Q	ENSP00000257189:R575Q	R	+	2	0	DSG3	27303137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.230000	0.01207	-3.245000	0.00206	-1.911000	0.00521	CGG		0.527	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		8	513	0	0	0	1	0	8	513				
BNIP3P1	319138	broad.mit.edu	37	14	28734253	28734253	+	RNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:28734253C>A	ENST00000550043.1	+	0	658									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TGAAAGTTTTCTTTCCATCTC	0.493																																						ENST00000550043.1																			0																																																			0							g.chr14:28734253C>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734253C>A														0	658	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.493	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			5	243	1	0	0.014758	1	0.0151246	5	243				
ST8SIA5	29906	broad.mit.edu	37	18	44272163	44272163	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:44272163C>A	ENST00000315087.7	-	3	940	c.280G>T	c.(280-282)Gcg>Tcg	p.A94S	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGTTCATCGCCCATTTGCAC	0.522																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(280-282)Gcg>Tcg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							228.0	153.0	178.0					18																	44272163		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44272163C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.280G>T	18.37:g.44272163C>A	ENSP00000321343:p.Ala94Ser					ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000590497.1_5'UTR	p.A94S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			3	940	-			94					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.280G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627958	0.28978	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.43294	0.97;0.95;1.57	4.89	4.02	0.46733	.	0.249281	0.40064	N	0.001183	T	0.30823	0.0777	L	0.29908	0.895	0.34705	D	0.727107	B;B;B;B	0.16166	0.008;0.006;0.001;0.016	B;B;B;B	0.18561	0.017;0.004;0.003;0.022	T	0.32534	-0.9903	10	0.23302	T	0.38	.	13.3123	0.60386	0.0:0.923:0.0:0.077	.	63;130;63;94	F5H8D1;B7Z1K9;B7Z5F7;O15466	.;.;.;SIA8E_HUMAN	S	94;130;63	ENSP00000321343:A94S;ENSP00000445492:A130S;ENSP00000443683:A63S	ENSP00000321343:A94S	A	-	1	0	ST8SIA5	42526161	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.591000	0.67536	1.199000	0.43173	0.555000	0.69702	GCG		0.522	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		57	229	1	0	4.45325e-31	1	4.96478e-31	57	229				
GLIS3	169792	broad.mit.edu	37	9	4118378	4118378	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:4118378C>T	ENST00000324333.10	-	3	828	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	212					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCTGGCTGCCGGGCACCGG	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(634-636)gGc>gAc		GLIS family zinc finger 3							5.0	6.0	6.0					9																	4118378		1786	3552	5338	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118378C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.635G>A	9.37:g.4118378C>T	ENSP00000325494:p.Gly212Asp					GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	p.G212D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	828	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	212					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.635G>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	4.448	0.083027	0.08533	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.10573	2.87;2.86	5.63	4.73	0.59995	.	0.314417	0.25622	N	0.029409	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.023;0.006	B;B	0.18561	0.022;0.01	T	0.40117	-0.9580	10	0.15066	T	0.55	.	5.5169	0.16912	0.0:0.6111:0.1599:0.229	.	367;212	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	D	212;367	ENSP00000325494:G212D;ENSP00000371398:G367D	ENSP00000325494:G212D	G	-	2	0	GLIS3	4108378	0.000000	0.05858	0.016000	0.15963	0.060000	0.15804	0.091000	0.15046	1.372000	0.46190	0.655000	0.94253	GGC		0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		20	44	0	0	0	1	0	20	44				
SZT2	23334	broad.mit.edu	37	1	43902866	43902866	+	Missense_Mutation	SNP	C	C	T	rs143602595		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:43902866C>T	ENST00000562955.1	+	42	5888	c.5888C>T	c.(5887-5889)gCg>gTg	p.A1963V	SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2020					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGAGCTGTGCGCCCCGTGGG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19243	0.0		0.0	False		,,,				2504	0.0					ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(5887-5889)gCg>gTg		seizure threshold 2 homolog (mouse)		C	VAL/ALA	0,4406		0,0,2203	115.0	112.0	113.0		5888	3.9	1.0	1	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	SZT2	NM_015284.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1963/3376	43902866	2,13004	2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902866C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5888C>T	1.37:g.43902866C>T	ENSP00000457168:p.Ala1963Val					SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	p.A1963V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			42	5888	+			2020					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5888C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859171	0.51376	0.0	2.33E-4	ENSG00000198198	ENST00000372442	.	.	.	5.86	3.88	0.44766	.	0.255324	0.38663	N	0.001618	T	0.11922	0.0290	N	0.08118	0	0.24335	N	0.994987	P	0.35774	0.519	B	0.24269	0.052	T	0.13980	-1.0489	9	0.27785	T	0.31	.	8.642	0.33983	0.3233:0.5576:0.1191:0.0	.	1963	Q5T011-5	.	V	1121	.	ENSP00000361519:A1121V	A	+	2	0	SZT2	43675453	1.000000	0.71417	0.992000	0.48379	0.801000	0.45260	5.486000	0.66856	1.475000	0.48197	0.655000	0.94253	GCG		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		6	458	0	0	0	1	0	6	458				
NKAIN2	154215	broad.mit.edu	37	6	124979616	124979616	+	Intron	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:124979616C>A	ENST00000368417.1	+	4	534				NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000368416.1_Silent_p.I186I	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAAATGGAATCTGTGGGTAAA	0.453																																						ENST00000368416.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19						c.(556-558)atC>atA		Na+/K+ transporting ATPase interacting 2																																				SO:0001627	intron_variant	154215					integral to membrane|plasma membrane		g.chr6:124979616C>A	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.474+84C>A	6.37:g.124979616C>A						NKAIN2_ENST00000368417.1_Intron|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Intron	p.I186I			Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	4	618	+			13					Q8IYR4|Q8TF67	Silent	SNP	ENST00000368417.1	37	c.558C>A	CCDS34526.1																																																																																				0.453	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		10	66	1	0	0.0581538	1	0.0585084	10	66				
DDX46	9879	broad.mit.edu	37	5	134130654	134130654	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:134130654G>A	ENST00000354283.4	+	14	1876	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000452510.2_Missense_Mutation_p.V581I			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	581	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTATTGAAGTACAAGTTGG	0.468																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1741-1743)Gta>Ata		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							220.0	198.0	206.0					5																	134130654		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134130654G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1741G>A	5.37:g.134130654G>A	ENSP00000346236:p.Val581Ile					DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.V581I	p.V581I	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		14	1899	+			581			Helicase ATP-binding.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1741G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872519	0.33069	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.92149	-2.98;-2.98	5.42	5.42	0.78866	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	N	0.04335	-0.225	0.80722	D	1	B	0.12630	0.006	B	0.16289	0.015	T	0.77138	-0.2698	10	0.02654	T	1	-15.5181	19.5998	0.95557	0.0:0.0:1.0:0.0	.	581	Q7L014	DDX46_HUMAN	I	581	ENSP00000416534:V581I;ENSP00000346236:V581I	ENSP00000346236:V581I	V	+	1	0	DDX46	134158553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.887000	0.87295	2.717000	0.92951	0.655000	0.94253	GTA		0.468	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		145	481	0	0	0	1	0	145	481				
NYAP2	57624	broad.mit.edu	37	2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A	rs551391208		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642																																						ENST00000272907.6																			1	Substitution - Missense(1)	p.V440I(1)	large_intestine(1)								c.(1318-1320)Gtc>Atc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							35.0	39.0	37.0					2																	226447451		2007	4183	6190	SO:0001583	missense	57624							g.chr2:226447451G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1318G>A	2.37:g.226447451G>A	ENSP00000272907:p.Val440Ile					NYAP2_ENST00000409269.2_Intron	p.V440I	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1731	+			440			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1318G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121708	0.77436	.	.	ENSG00000144460	ENST00000272907	T	0.33654	1.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.41824	1.3	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.41538	-0.9503	10	0.30854	T	0.27	-12.6994	18.7321	0.91739	0.0:0.0:1.0:0.0	.	440	Q9P242	K1486_HUMAN	I	440	ENSP00000272907:V440I	ENSP00000272907:V440I	V	+	1	0	KIAA1486	226155695	1.000000	0.71417	0.039000	0.18376	0.943000	0.58893	9.476000	0.97823	2.415000	0.81967	0.563000	0.77884	GTC		0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		27	128	0	0	0	1	0	27	128				
OR2T1	26696	broad.mit.edu	37	1	248569553	248569553	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:248569553C>A	ENST00000366474.1	+	1	258	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TCATCTTCTTCACCGCACTGA	0.443																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(256-258)ttC>ttA		olfactory receptor, family 2, subfamily T, member 1							160.0	145.0	150.0					1																	248569553		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569553C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.258C>A	1.37:g.248569553C>A	ENSP00000355430:p.Phe86Leu						p.F86L	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	258	+	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)		86					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.258C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	1.274	-0.612375	0.03690	.	.	ENSG00000175143	ENST00000366474	T	0.00672	5.89	4.71	-0.642	0.11486	.	0.422262	0.17374	N	0.176578	T	0.00241	0.0007	N	0.00496	-1.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45323	-0.9269	10	0.02654	T	1	.	1.4067	0.02282	0.1474:0.2756:0.1437:0.4333	.	86	O43869	OR2T1_HUMAN	L	86	ENSP00000355430:F86L	ENSP00000355430:F86L	F	+	3	2	OR2T1	246636176	0.000000	0.05858	0.105000	0.21289	0.088000	0.18126	-4.701000	0.00196	0.213000	0.20722	0.557000	0.71058	TTC		0.443	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			132	773	1	0	2.35797e-81	1	2.7399e-81	132	773				
RNF114	55905	broad.mit.edu	37	20	48561946	48561946	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:48561946G>A	ENST00000244061.2	+	3	321	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	107					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCGGTCCCACGTGGCTACTTG	0.458																																						ENST00000244061.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(319-321)Gtg>Atg		ring finger protein 114							159.0	128.0	138.0					20																	48561946		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48561946G>A	AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.319G>A	20.37:g.48561946G>A	ENSP00000244061:p.Val107Met						p.V107M	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN			3	321	+			107					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.319G>A	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496437	0.44352	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	T	0.81078	-1.45	5.97	5.02	0.67125	.	0.234988	0.44688	D	0.000431	T	0.73984	0.3657	L	0.46157	1.445	0.26976	N	0.965477	P;B	0.52842	0.956;0.282	B;B	0.43508	0.422;0.041	T	0.70263	-0.4920	10	0.42905	T	0.14	-6.465	9.5071	0.39053	0.0741:0.0:0.7856:0.1403	.	107;107	Q9Y508-2;Q9Y508	.;RN114_HUMAN	M	107	ENSP00000244061:V107M	ENSP00000244061:V107M	V	+	1	0	RNF114	47995353	1.000000	0.71417	0.977000	0.42913	0.934000	0.57294	4.718000	0.61930	2.833000	0.97629	0.585000	0.79938	GTG		0.458	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		40	176	0	0	0	1	0	40	176				
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:39305839A>T	ENST00000343246.4	-	1	215	c.181T>A	c.(181-183)Tgc>Agc	p.C61S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	61	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.667																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(181-183)Tgc>Agc		keratin associated protein 4-5							19.0	23.0	21.0					17																	39305839		2168	4261	6429	SO:0001583	missense	85289					keratin filament		g.chr17:39305839A>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.181T>A	17.37:g.39305839A>T	ENSP00000340546:p.Cys61Ser						p.C61S	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	215	-		Breast(137;0.000496)	61			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.181T>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	9.193	1.026467	0.19512	.	.	ENSG00000198271	ENST00000343246	T	0.00637	6.05	4.04	4.04	0.47022	.	0.000000	0.40302	U	0.001130	T	0.01124	0.0037	M	0.77616	2.38	0.25414	N	0.98834	B	0.25351	0.124	B	0.28553	0.091	T	0.35325	-0.9793	10	0.48119	T	0.1	.	6.1992	0.20567	0.8852:0.0:0.1148:0.0	.	61	Q9BYR2	KRA45_HUMAN	S	61	ENSP00000340546:C61S	ENSP00000340546:C61S	C	-	1	0	KRTAP4-5	36559365	1.000000	0.71417	0.957000	0.39632	0.026000	0.11368	4.257000	0.58816	1.797000	0.52628	0.533000	0.62120	TGC		0.667	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			4	153	0	0	0	1	0	4	153				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		10	150	0	0	0	1	0	10	150				
LEPR	3953	broad.mit.edu	37	1	66102532	66102532	+	Missense_Mutation	SNP	C	C	T	rs538482870		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:66102532C>T	ENST00000349533.6	+	20	3517	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTTATTCACGGACATCAGA	0.418																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3331-3333)aCg>aTg		leptin receptor							69.0	66.0	67.0					1																	66102532		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102532C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3332C>T	1.37:g.66102532C>T	ENSP00000330393:p.Thr1111Met					LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	p.T1111M	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3517	+			1111					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3332C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048241	0.19827	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55760	0.5	5.37	-1.07	0.09968	.	0.746455	0.13820	N	0.360475	T	0.31765	0.0807	L	0.51422	1.61	0.09310	N	1	D	0.56287	0.975	P	0.49999	0.628	T	0.12372	-1.0550	10	0.48119	T	0.1	-4.0534	5.9674	0.19332	0.1701:0.3559:0.402:0.0719	.	1111	P48357	LEPR_HUMAN	M	1111;178	ENSP00000330393:T1111M	ENSP00000330393:T1111M	T	+	2	0	LEPR	65875120	0.038000	0.19896	0.098000	0.21074	0.002000	0.02628	0.224000	0.17738	0.136000	0.18733	-0.237000	0.12165	ACG		0.418	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		48	175	0	0	0	1	0	48	175				
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	rs369435407		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:187206814C>T	ENST00000403665.2	+	12	1679	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	F11-AS1_ENST00000505103.1_RNA|F11_ENST00000264692.4_Missense_Mutation_p.R391C	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358																																						ENST00000264692.4																			1	Substitution - Missense(1)	p.R443C(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32	GRCh37	CM062624	F11	M		c.(1171-1173)Cgt>Tgt		coagulation factor XI	Coagulation Factor IX(DB00100)	C	CYS/ARG	0,4406		0,0,2203	121.0	122.0	122.0		1327	4.9	1.0	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11	NM_000128.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	443/626	187206814	1,13005	2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187206814C>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1327C>T	4.37:g.187206814C>T	ENSP00000384957:p.Arg443Cys					F11_ENST00000403665.2_Missense_Mutation_p.R443C	p.R391C			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	12	1504	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	443			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1171C>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655726	0.67586	0.0	1.16E-4	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89617	-2.54;-2.54	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.278238	0.31673	N	0.007243	D	0.93861	0.8036	M	0.81341	2.54	0.48395	D	0.999649	D	0.89917	1.0	D	0.76071	0.987	D	0.93783	0.7085	9	.	.	.	.	13.1878	0.59691	0.1594:0.8406:0.0:0.0	.	443	P03951	FA11_HUMAN	C	443;391	ENSP00000384957:R443C;ENSP00000264692:R391C	.	R	+	1	0	F11	187443808	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.339000	0.52135	2.504000	0.84457	0.650000	0.86243	CGT		0.358	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			5	373	0	0	0	1	0	5	373				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			6	174	0	0	0	1	0	6	174				
RP11-423O2.5	0	broad.mit.edu	37	1	142803697	142803697	+	lincRNA	SNP	A	A	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:142803697A>C	ENST00000423385.1	-	0	1268																											taaagccatcataacatctgt	0.338																																						ENST00000423385.1																			0																																																			0							g.chr1:142803697A>C																													1.37:g.142803697A>C														0	1268	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.338	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			10	131	0	0	0	1	0	10	131				
ANAPC4	29945	broad.mit.edu	37	4	25395511	25395511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:25395511C>T	ENST00000315368.3	+	11	1016	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.Q292*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CAAGTTTGTGCAGGTAAAGCA	0.353																																						ENST00000315368.3																			1	Substitution - Nonsense(1)	p.Q292*(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(874-876)Cag>Tag		anaphase promoting complex subunit 4							81.0	76.0	78.0					4																	25395511		2203	4300	6503	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25395511C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.874C>T	4.37:g.25395511C>T	ENSP00000318775:p.Gln292*					ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN			11	1016	+		Breast(46;0.0503)	292					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.874C>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.341870	0.98224	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-20.3366	20.394	0.98981	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000318775:Q292X	Q	+	1	0	ANAPC4	25004609	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.162000	0.77515	2.830000	0.97506	0.585000	0.79938	CAG		0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		4	197	0	0	0	1	0	4	197				
TRIM67	440730	broad.mit.edu	37	1	231298879	231298879	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:231298879C>T	ENST00000366653.5	+	1	164	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L|TRIM67_ENST00000449018.3_Intron|TRIM67_ENST00000444294.3_Missense_Mutation_p.S55L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	55					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCCGGGGATCGGGGCTGCAG	0.741																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(163-165)tCg>tTg		tripartite motif containing 67							5.0	6.0	5.0					1																	231298879		1795	3951	5746	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231298879C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.164C>T	1.37:g.231298879C>T	ENSP00000355613:p.Ser55Leu					TRIM67_ENST00000449018.3_Intron|TRIM67_ENST00000366653.5_Missense_Mutation_p.S55L|TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L	p.S55L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1022	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	55					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.164C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	9.408	1.079775	0.20309	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000366653	T;T;T	0.70516	-0.49;-0.4;-0.49	4.02	4.02	0.46733	Zinc finger, RING-type (1);	2.080550	0.03330	N	0.193199	T	0.55784	0.1942	N	0.08118	0	0.09310	N	1	B	0.22851	0.076	B	0.12156	0.007	T	0.41305	-0.9516	10	0.28530	T	0.3	.	13.4243	0.61015	0.0:1.0:0.0:0.0	.	55	Q6ZTA4	TRI67_HUMAN	L	55	ENSP00000412124:S55L;ENSP00000355612:S55L;ENSP00000355613:S55L	ENSP00000355612:S55L	S	+	2	0	TRIM67	229365502	0.772000	0.28567	0.083000	0.20561	0.114000	0.19823	-0.265000	0.08644	1.949000	0.56562	0.313000	0.20887	TCG		0.741	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		6	33	0	0	0	1	0	6	33				
LGI3	203190	broad.mit.edu	37	8	22006465	22006465	+	Silent	SNP	C	C	T	rs531787685		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22006465C>T	ENST00000306317.2	-	8	1144	c.855G>A	c.(853-855)ccG>ccA	p.P285P	LGI3_ENST00000424267.2_Silent_p.P261P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	285					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACCACCATCGGCTTGCAGT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19186	0.0		0.0	False		,,,				2504	0.0					ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(853-855)ccG>ccA		leucine-rich repeat LGI family, member 3							42.0	37.0	39.0					8																	22006465		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006465C>T	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.855G>A	8.37:g.22006465C>T						LGI3_ENST00000424267.2_Silent_p.P261P	p.P285P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1144	-			285					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.855G>A	CCDS6025.1																																																																																				0.637	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			41	82	0	0	0	1	0	41	82				
ATP8B3	148229	broad.mit.edu	37	19	1785279	1785279	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:1785279C>A	ENST00000310127.6	-	27	3649	c.3411G>T	c.(3409-3411)aaG>aaT	p.K1137N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N|ATP8B3_ENST00000539485.1_Missense_Mutation_p.K1147N	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1137					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCCAGTACTTGATGATAA	0.607																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3439-3441)aaG>aaT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							39.0	47.0	44.0					19																	1785279		2190	4290	6480	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785279C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3411G>T	19.37:g.1785279C>A	ENSP00000311336:p.Lys1137Asn					ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.K1137N	p.K1147N			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3674	-		Hepatocellular(1079;0.137)	1137					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3441G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345599	0.41498	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.88664	-2.41;-2.41;-2.41	4.49	-0.244	0.13031	.	0.488846	0.21162	N	0.079130	D	0.83594	0.5288	L	0.28694	0.88	0.21604	N	0.999627	D;D	0.54964	0.961;0.969	P;P	0.52159	0.617;0.691	T	0.75068	-0.3448	10	0.45353	T	0.12	.	5.2161	0.15344	0.1426:0.6161:0.0:0.2414	.	1137;1100	O60423;Q7Z485	AT8B3_HUMAN;.	N	1137;1147;1100	ENSP00000311336:K1137N;ENSP00000443574:K1147N;ENSP00000437115:K1100N	ENSP00000311336:K1137N	K	-	3	2	ATP8B3	1736279	0.001000	0.12720	0.070000	0.20053	0.053000	0.15095	-0.307000	0.08167	-0.219000	0.10003	-0.136000	0.14681	AAG		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		15	77	1	0	4.7546e-09	1	5.12751e-09	15	77				
PKHD1	5314	broad.mit.edu	37	6	51944795	51944795	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:51944795G>A	ENST00000371117.3	-	5	568	c.293C>T	c.(292-294)tCt>tTt	p.S98F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	98	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCTTCAGACAGCACAGA	0.473																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(292-294)tCt>tTt		polycystic kidney and hepatic disease 1 (autosomal recessive)							128.0	117.0	120.0					6																	51944795		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944795G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.293C>T	6.37:g.51944795G>A	ENSP00000360158:p.Ser98Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	568	-	Lung NSC(77;0.0605)		98			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.293C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345983	0.41599	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.13;-2.34	5.31	3.41	0.39046	.	0.768295	0.12007	N	0.508240	T	0.74951	0.3784	L	0.46157	1.445	0.09310	N	1	P;P	0.45474	0.859;0.779	B;B	0.40444	0.329;0.177	T	0.67452	-0.5667	10	0.62326	D	0.03	.	9.7386	0.40404	0.0:0.1492:0.6976:0.1532	.	98;98	P08F94-2;P08F94	.;PKHD1_HUMAN	F	98	ENSP00000360158:S98F;ENSP00000341097:S98F	ENSP00000341097:S98F	S	-	2	0	PKHD1	52052754	0.010000	0.17322	0.008000	0.14137	0.776000	0.43924	1.556000	0.36288	2.631000	0.89168	0.655000	0.94253	TCT		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		89	295	0	0	0	1	0	89	295				
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		8	739						8	739	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		15	72						15	72	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gaafs	p.E602fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1804-1806)gafs		ankyrin repeat domain 35							35.0	44.0	41.0					1																	145562117		2202	4300	6502	SO:0001589	frameshift_variant	148741							g.chr1:145562117delA	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1805delA	1.37:g.145562117delA	ENSP00000347802:p.Glu602fs						p.E602fs	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	1892	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		602					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Del	DEL	ENST00000355594.4	37	c.1805delA	CCDS919.1																																																																																				0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		7	387						7	387	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450526	155450527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:155450526_155450527insT	ENST00000368346.3	-	3	2773_2774	c.2134_2135insA	c.(2134-2136)agafs	p.R712fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R712fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	712					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTCCTTTTCTTTTTTTTAAT	0.401																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(2134-2136)aaafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450526_155450527insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2135dupA	1.37:g.155450534_155450534dupT	ENSP00000357330:p.Arg712fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K712fs	p.K712fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2773_2774	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		712					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.2134_2135insA																																																																																					0.401	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	789						7	789	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)tttfs	p.F199fs	SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAAAATTTCCAAAAAAAATTG	0.279																																						ENST00000367714.3																			0											c.(595-597)ttfs		solute carrier family 9, member C2 (putative)							52.0	56.0	54.0					1																	173552688		2203	4298	6501	SO:0001589	frameshift_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552688delA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.597delT	1.37:g.173552688delA	ENSP00000356687:p.Phe199fs					SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA	p.F199fs	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			6	1019	-			199					Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	c.597delT	CCDS1308.1																																																																																				0.279	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	888						8	888	---	---	---	---
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAAGCTCAAAAAAAATGC	0.562																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	GRCh37	CD065661	AGT	D		c.(1288-1290)ttfs		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						96.0	93.0	94.0					1																	230839055		2203	4300	6503	SO:0001589	frameshift_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839055delA	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs						p.F430fs	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1504	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	430					Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	ENST00000366667.4	37	c.1290delT	CCDS1585.1																																																																																				0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		8	422						8	422	---	---	---	---
TRAPPC12	51112	broad.mit.edu	37	2	3485818	3485818	+	IGR	DEL	C	C	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:3485818delC	ENST00000324266.5	+	0	2508				TRAPPC12-AS1_ENST00000453806.1_RNA	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12						vesicle-mediated transport (GO:0016192)												TCTGCCTGGACCCCTCCTGGC	0.617																																						ENST00000453806.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr2:3485818delC	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328		2.37:g.3485818delC														0	264	-								B3KV01|D6W4Y2|Q8WVW1|Q9Y395	RNA	DEL	ENST00000324266.5	37		CCDS1652.1																																																																																				0.617	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		2	4						2	4	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713755	30713758	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:30713755_30713758delCCTC	ENST00000295754.5	+	4	1462_1465	c.1080_1083delCCTC	c.(1078-1083)cacctcfs	p.HL360fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATTGCTCACCTCCACAGTGATC	0.608																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1078-1083)cafs		transforming growth factor, beta receptor II (70/80kDa)																																				SO:0001589	frameshift_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713755_30713758delCCTC		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1080_1083delCCTC	3.37:g.30713755_30713758delCCTC	ENSP00000295754:p.His360fs					TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	p.HL360fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1462_1465	+			360			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	ENST00000295754.5	37	c.1080_1083delCCTC	CCDS2648.1																																																																																				0.608	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			96	448						96	448	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aaafs	p.K540fs	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1620)aafs		sodium channel and clathrin linker 1				19,4247		7,5,2121	118.0	121.0	120.0			5.3	1.0	4		118	26,8228		12,2,4113	no	frameshift	SCLT1	NM_144643.2		19,7,6234	A1A1,A1R,RR		0.315,0.4454,0.3594			129864163	45,12475	2203	4300	6503	SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864163delT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1620delA	4.37:g.129864163delT	ENSP00000281142:p.Lys540fs					SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	p.K540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Del	DEL	ENST00000281142.5	37	c.1620delA	CCDS3740.1																																																																																				0.353	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		11	618						11	618	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		7	106						7	106	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128495281	128495282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495281_128495282insA	ENST00000325888.8	+	43	7425_7426	c.7164_7165insA	c.(7165-7167)gatfs	p.D2389fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D2356fs|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAATGATGAGCACAT	0.624																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(7162-7167)aaatgafs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128495281_128495282insA	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	Exception_encountered	7.37:g.128495281_128495282insA	ENSP00000327145:p.Asp2389fs					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.*2356fs	p.*2389fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			43	7425_7426	+			2389					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	ENST00000325888.8	37	c.7164_7165insA	CCDS43644.1																																																																																				0.624	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			70	521						70	521	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22054903	22054903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22054903delA	ENST00000306385.5	+	15	2747	c.2077delA	c.(2077-2079)aaafs	p.K694fs	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.K694fs|BMP1_ENST00000306349.8_Frame_Shift_Del_p.K694fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	694	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CACCGTGTCCAAAAAGGGCTT	0.577																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2077-2079)aafs		bone morphogenetic protein 1							223.0	204.0	211.0					8																	22054903		2203	4300	6503	SO:0001589	frameshift_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054903delA		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2077delA	8.37:g.22054903delA	ENSP00000305714:p.Lys694fs					BMP1_ENST00000306349.8_Frame_Shift_Del_p.K694fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.K694fs	p.K694fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	15	2747	+			694			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Frame_Shift_Del	DEL	ENST00000306385.5	37	c.2077delA	CCDS6026.1																																																																																				0.577	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	1028						7	1028	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	-	A	rs570442888	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:24167472_24167473insA	ENST00000265769.4	+	3	326_327	c.216_217insA	c.(217-219)aaafs	p.K73fs	ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.K73fs|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	73					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	2	0.000399361	0.0	0.0	5008	,	,		18919	0.0		0.0	False		,,,				2504	0.002				NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Insertion - Frameshift(1)	p.N75fs*15(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(214-219)ttaaaafs		ADAM metallopeptidase domain 28																																				SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167472_24167473insA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.224dupA	8.37:g.24167480_24167480dupA	ENSP00000265769:p.Lys73fs					ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.LK72fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_5'UTR	p.LK72fs	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	3	326_327	+		Prostate(55;0.0959)	72					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Ins	INS	ENST00000265769.4	37	c.216_217insA	CCDS34865.1																																																																																				0.332	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		8	637						8	637	---	---	---	---
TTC16	158248	broad.mit.edu	37	9	130486669	130486670	+	Intron	INS	-	-	G	rs374807906		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:130486669_130486670insG	ENST00000373289.3	+	8	1197				TTC16_ENST00000393748.4_Frame_Shift_Ins_p.G206fs|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16											central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCACTGGGGAGGGGGGGTGCG	0.663																																						ENST00000393748.4																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(613-618)ggggggfs		tetratricopeptide repeat domain 16																																				SO:0001627	intron_variant	158248						binding	g.chr9:130486669_130486670insG	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1117+26->G	9.37:g.130486676_130486676dupG						PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000373289.3_Intron|TTC16_ENST00000489226.1_Intron	p.GG205fs			Q8NEE8	TTC16_HUMAN			7	1037_1038	+			0					B4DYG4|B5ME24|Q5JU66|Q96M72	Frame_Shift_Ins	INS	ENST00000373289.3	37	c.615_616insG	CCDS6875.1																																																																																				0.663	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		15	138						15	138	---	---	---	---
GTF3C5	9328	broad.mit.edu	37	9	135933278	135933280	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:135933278_135933280delGAG	ENST00000372097.5	+	11	1794_1796	c.1471_1473delGAG	c.(1471-1473)gagdel	p.E499del	GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del|GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	499	Glu-rich.|Poly-Glu.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggaggagg	0.581																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(1471-1473)del		general transcription factor IIIC, polypeptide 5, 63kDa																																				SO:0001651	inframe_deletion	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135933278_135933280delGAG	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1471_1473delGAG	9.37:g.135933287_135933289delGAG	ENSP00000361169:p.Glu499del					GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del|GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del	p.E499del	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	11	1794_1796	+			499			Glu-rich.|Poly-Glu.		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	In_Frame_Del	DEL	ENST00000372097.5	37	c.1471_1473delGAG	CCDS6958.1																																																																																				0.581	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		7	300						7	300	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		7	38						7	38	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-	rs368539157		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:61828727_61828729delGTG	ENST00000280772.2	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)accact>act	p.3970_3971TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11908-11913)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828727_61828729delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11910_11912delCAC	10.37:g.61828736_61828738delGTG	ENSP00000280772:p.Thr3978del					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.TT3976del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101_12103	-			3976			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11910_11912delCAC	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	603						11	603	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6075delA	c.(6073-6075)aaa>aa	p.K2025fs	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843fs|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.e16+1		jumonji domain containing 1C							153.0	141.0	145.0					10																	64952699		1873	4104	5977	SO:0001630	splice_region_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64952699delT	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6076+1A>-	10.37:g.64952699delT						JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice	p.K2025_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			16	6293	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2025					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Splice_Site	DEL	ENST00000399262.2	37	c.6076_splice	CCDS41532.1																																																																																				0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	Frame_Shift_Del	9	446						9	446	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19256002	19256002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:19256002delA	ENST00000527884.1	-	6	1065	c.833delT	c.(832-834)ttgfs	p.L278fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	278					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGACACCAAAAACAGCAT	0.383																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(832-834)tgfs		E2F transcription factor 8							157.0	156.0	156.0					11																	19256002		2199	4293	6492	SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256002delA		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.833delT	11.37:g.19256002delA	ENSP00000434199:p.Leu278fs					E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	p.L278fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			6	1065	-			278					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Del	DEL	ENST00000527884.1	37	c.833delT	CCDS7849.1																																																																																				0.383	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		7	784						7	784	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	205						7	205	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		8	575						8	575	---	---	---	---
BRI3BP	140707	broad.mit.edu	37	12	125478381	125478382	+	In_Frame_Ins	INS	-	-	CTG	rs61379857|rs374894130|rs546819378|rs574884755	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:125478381_125478382insCTG	ENST00000341446.8	+	1	136_137	c.45_46insCTG	c.(46-48)ctg>CTGctg	p.16_16L>LL		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		gggccgggctcctgctgctgct	0.822																																						ENST00000341446.8																			0				large_intestine(1)|lung(8)|ovary(1)	10						c.(43-48)cttgct>ctCTGtgct		BRI3 binding protein																																				SO:0001652	inframe_insertion	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125478381_125478382insCTG	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.70_72dupCTG	12.37:g.125478388_125478390dupCTG	ENSP00000340761:p.Leu25dup						p.15_16LA>LCA	NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	1	136_137	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		15						In_Frame_Ins	INS	ENST00000341446.8	37	c.45_46insCTG	CCDS9262.1																																																																																				0.822	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		2	4						2	4	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			11	49						11	49	---	---	---	---
RP11-141M1.3	0	broad.mit.edu	37	13	33942665	33942667	+	lincRNA	DEL	CAG	CAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:33942665_33942667delCAG	ENST00000454681.2	-	0	308																											TAGCAAGAAAcagcagcagcagc	0.419																																						ENST00000454681.2																			0																																																			0							g.chr13:33942665_33942667delCAG																													13.37:g.33942674_33942676delCAG														0	308	-									RNA	DEL	ENST00000454681.2	37																																																																																						0.419	RP11-141M1.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000044447.2			3	4						3	4	---	---	---	---
BORA	79866	broad.mit.edu	37	13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcafs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGGCTAGTGCAAAAAAATACA	0.383																																						ENST00000390667.5																			0											c.(772-774)gcfs		bora, aurora kinase A activator							103.0	98.0	100.0					13																	73320117		1807	4062	5869	SO:0001589	frameshift_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320117delA	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.774delA	13.37:g.73320117delA	ENSP00000375082:p.Ala258fs					BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	p.A258fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			9	871	+			258			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Del	DEL	ENST00000390667.5	37	c.774delA	CCDS9446.1																																																																																				0.383	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		7	1051						7	1051	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs375739374|rs542749146		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396																																						ENST00000548261.1																			0																																																			0							g.chr14:20138373_20138374insAAG																													14.37:g.20138374_20138376dupAAG														0	391	+									RNA	INS	ENST00000548261.1	37																																																																																						0.396	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			8	25						8	25	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25304705	25304706	+	RNA	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:25304705_25304706insA	ENST00000549804.2	+	0	98_99				SNORD116-5_ENST00000384462.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA|SNHG14_ENST00000547292.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGAGTCCCCCCAAAAAAACATT	0.505																																						ENST00000549804.2																			0																																																			0							g.chr15:25304705_25304706insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25304712_25304712dupA						SNHG14_ENST00000384733.1_RNA								0	98_99	+									RNA	INS	ENST00000549804.2	37																																																																																						0.505	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	1634						7	1634	---	---	---	---
C15orf48	84419	broad.mit.edu	37	15	45724278	45724279	+	Frame_Shift_Ins	INS	-	-	A	rs557217388		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:45724278_45724279insA	ENST00000344300.3	+	3	321_322	c.131_132insA	c.(130-135)cgaaaafs	p.RK44fs	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.RK44fs|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	44						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		AGCCTTGATCGAAAAAAAAATC	0.322																																						ENST00000344300.3																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(130-132)caafs		chromosome 15 open reading frame 48			,	5,4259		0,5,2127					,	5.4	1.0			110	6,8248		0,6,4121	no	frameshift,frameshift	C15orf48	NM_197955.1,NM_032413.2	,	0,11,6248	A1A1,A1R,RR		0.0727,0.1173,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	84419					nucleus		g.chr15:45724278_45724279insA		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"""normal mucosa of esophagus specific 1"""	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.140dupA	15.37:g.45724287_45724287dupA	ENSP00000341610:p.Arg44fs					RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.Q44fs	p.Q44fs	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	3	321_322	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	44						Frame_Shift_Ins	INS	ENST00000344300.3	37	c.131_132insA	CCDS10124.1																																																																																				0.322	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		7	352						7	352	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229					ENST00000561463.1																			0																																																			0							g.chr15:102312241delA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA														0	13609	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	57						7	57	---	---	---	---
SLC6A10PB	653562	broad.mit.edu	37	16	32896096	32896100	+	lincRNA	DEL	GAGGG	GAGGG	-	rs370744350		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:32896096_32896100delGAGGG	ENST00000398669.2	+	0	0				SLC6A10P_ENST00000330048.5_RNA																							ggagggctgcgaggggaggggaggg	0.683																																						ENST00000330048.5																			0																																																			0							g.chr16:32896096_32896100delGAGGG																													16.37:g.32896106_32896110delGAGGG								NR_003083.2						0	233	-									RNA	DEL	ENST00000398669.2	37																																																																																						0.683	RP11-989E6.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432084.1			5	9						5	9	---	---	---	---
CKLF	51192	broad.mit.edu	37	16	66599895	66599895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:66599895delA	ENST00000264001.4	+	4	589	c.440delA	c.(439-441)gaafs	p.E147fs	CKLF_ENST00000563092.1_3'UTR|CMTM1_ENST00000535705.1_5'Flank|CMTM1_ENST00000533666.1_5'Flank|CKLF_ENST00000362093.4_Frame_Shift_Del_p.E62fs|CMTM1_ENST00000528324.1_5'Flank|CKLF_ENST00000417030.2_Intron|CMTM1_ENST00000328020.6_5'Flank|CKLF-CMTM1_ENST00000532838.1_Intron|CMTM1_ENST00000332695.7_5'Flank|CMTM1_ENST00000531885.1_5'Flank|CMTM1_ENST00000336328.6_5'Flank|CMTM1_ENST00000457188.2_5'Flank|CKLF_ENST00000345436.4_Frame_Shift_Del_p.E115fs|CMTM1_ENST00000533953.1_5'Flank|CMTM1_ENST00000529506.1_5'Flank|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000379500.2_5'Flank|CKLF_ENST00000351137.4_Frame_Shift_Del_p.E94fs	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	147					cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CCTGTGCATGAAAAAAAAGAA	0.363																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(439-441)gafs		chemokine-like factor							52.0	53.0	53.0					16																	66599895		2201	4300	6501	SO:0001589	frameshift_variant	51192							g.chr16:66599895delA	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.440delA	16.37:g.66599895delA	ENSP00000264001:p.Glu147fs					CKLF_ENST00000532838.1_Intron|CKLF_ENST00000345436.4_Frame_Shift_Del_p.E115fs|CKLF_ENST00000362093.4_Frame_Shift_Del_p.E62fs|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000351137.4_Frame_Shift_Del_p.E94fs	p.E147fs	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	4	589	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Frame_Shift_Del	DEL	ENST00000264001.4	37	c.440delA	CCDS10807.1																																																																																				0.363	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		8	381						8	381	---	---	---	---
RP11-640N20.6	0	broad.mit.edu	37	17	30419112	30419113	+	RNA	DEL	AG	AG	-	rs143778710|rs372502370	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:30419112_30419113delAG	ENST00000358484.4	+	0	144				RP11-640N20.8_ENST00000581225.1_RNA																							atgcaagcacagacacacacag	0.51														236	0.0471246	0.0053	0.0504	5008	,	,		19764	0.0		0.1183	False		,,,				2504	0.0767					ENST00000358484.4																			0																																																			0							g.chr17:30419112_30419113delAG																													17.37:g.30419112_30419113delAG						RP11-640N20.8_ENST00000581225.1_RNA								0	144	+									RNA	DEL	ENST00000358484.4	37																																																																																						0.510	RP11-640N20.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000447090.1			8	9						8	9	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)caafs	p.Q510fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			1	Deletion - Frameshift(1)	p.N512fs*2(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1528-1530)cafs		protein phosphatase, Mg2+/Mn2+ dependent, 1D							71.0	73.0	72.0					17																	58740624		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740624delA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1529delA	17.37:g.58740624delA	ENSP00000306682:p.Gln510fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.Q510fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1761	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		510					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1529delA	CCDS11625.1																																																																																				0.378	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		7	364						7	364	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				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)			GGGGGATGGGAAAAAAAATGG	0.522																																						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.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	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.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	447						8	447	---	---	---	---
RP11-161I6.2	0	broad.mit.edu	37	18	2127314	2127315	+	lincRNA	INS	-	-	TT	rs398120099|rs199632992|rs35166795	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:2127314_2127315insTT	ENST00000579097.1	-	0	132																											tcatgtctctctgcccagttca	0.515														1879	0.3752	0.5454	0.3343	5008	,	,		17900	0.4177		0.2913	False		,,,				2504	0.2168					ENST00000579097.1																			0																																																			0							g.chr18:2127314_2127315insTT																													18.37:g.2127314_2127315insTT														0	132	-									RNA	INS	ENST00000579097.1	37																																																																																						0.515	RP11-161I6.2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441770.1			4	5						4	5	---	---	---	---
EXOSC5	56915	broad.mit.edu	37	19	41903203	41903203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:41903203delT	ENST00000221233.4	-	1	181	c.31delA	c.(31-33)atcfs	p.I11fs	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|BCKDHA_ENST00000457836.2_5'Flank	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	11					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCAGCACGGATTTTGGCGTCA	0.647																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(31-33)tcfs		exosome component 5							147.0	127.0	133.0					19																	41903203		2203	4300	6503	SO:0001589	frameshift_variant	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903203delT	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.31delA	19.37:g.41903203delT	ENSP00000221233:p.Ile11fs					CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs	p.I11fs	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			1	181	-			11					Q32Q81|Q8NG16|Q96I89	Frame_Shift_Del	DEL	ENST00000221233.4	37	c.31delA	CCDS12580.1																																																																																				0.647	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		7	674						7	674	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439844	43439845	+	RNA	INS	-	-	G	rs370231373		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43439844_43439845insG	ENST00000406070.2	-	0	237_238				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.485																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439844_43439845insG			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439844_43439845insG						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	237_238	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.485	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		255	1107						255	1107	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43585321	43585322	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43585321_43585322insG	ENST00000406487.1	-	2	239_240	c.141_142insC	c.(139-144)gaggggfs	p.G48fs	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	48	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.48																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(139-144)gaggaafs		pregnancy specific beta-1-glycoprotein 2																																				SO:0001589	frameshift_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585321_43585322insG		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.141_142insC	19.37:g.43585321_43585322insG	ENSP00000385706:p.Gly48fs						p.EE47fs	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	239_240	-		Prostate(69;0.00682)	47			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Frame_Shift_Ins	INS	ENST00000406487.1	37	c.141_142insC	CCDS12616.1																																																																																				0.480	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		11	1624						11	1624	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53085864	53085864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:53085864delA	ENST00000540331.1	+	5	975	c.750delA	c.(748-750)ccafs	p.P250fs	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Frame_Shift_Del_p.P184fs|ZNF701_ENST00000301093.2_Frame_Shift_Del_p.P250fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CCTGTAGGCCAAAAACTCGTA	0.383																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(748-750)ccfs		zinc finger protein 701							49.0	50.0	50.0					19																	53085864		2203	4300	6503	SO:0001589	frameshift_variant	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085864delA	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.750delA	19.37:g.53085864delA	ENSP00000444339:p.Pro250fs					ZNF701_ENST00000391785.3_Frame_Shift_Del_p.P184fs|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Frame_Shift_Del_p.P250fs	p.P250fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	975	+			184					A2RRM8|B9EGF2|F5GZM6|Q66K42	Frame_Shift_Del	DEL	ENST00000540331.1	37	c.750delA	CCDS54311.1																																																																																				0.383	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		9	607						9	607	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383																																						ENST00000591761.1																			0																																																			0							g.chr20:21146805delG																													20.37:g.21146805delG						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.383	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			10	97						10	97	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885|rs71292114		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACTGAGATGTAAGTTGTTGG	0.446																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038813_11038814insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038814_11038814dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1389_1390	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.446	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	1054						7	1054	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			10	1232						10	1232	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	167						7	167	---	---	---	---
RP1-154K9.2	0	broad.mit.edu	37	X	42384560	42384561	+	lincRNA	DEL	AA	AA	-	rs370030451		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:42384560_42384561delAA	ENST00000411879.1	+	0	523																											CAGCCAAGGGAAAAAAAAAAAA	0.322																																						ENST00000411879.1																			0																																																			0							g.chrX:42384560_42384561delAA																													X.37:g.42384570_42384571delAA														0	523	+									RNA	DEL	ENST00000411879.1	37																																																																																						0.322	RP1-154K9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056295.1			5	6						5	6	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70642968	70642970	+	Splice_Site	DEL	AAG	AAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:70642968_70642970delAAG	ENST00000373790.4	+	30	4502_4504	c.4451_4453delAAG	c.(4450-4455)aaagaa>aaa	p.E1485del	TAF1_ENST00000449580.1_Splice_Site_p.E1485del|TAF1_ENST00000276072.3_Splice_Site_p.E1506del|TAF1_ENST00000423759.1_Splice_Site_p.E1506del	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1485	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAATTTCAGAAAGAAGACAAATT	0.443																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.e30-1		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa																																				SO:0001630	splice_region_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70642968_70642970delAAG		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4450-1AAG>-	X.37:g.70642971_70642973delAAG						TAF1_ENST00000276072.3_Splice_Site_p.KE1505_splice|TAF1_ENST00000423759.1_Splice_Site_p.KE1505_splice|TAF1_ENST00000373790.4_Splice_Site_p.KE1484_splice	p.KE1484_splice			P21675	TAF1_HUMAN			30	4502_4504	+	Renal(35;0.156)	all_lung(315;0.000321)	1484			Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Splice_Site	DEL	ENST00000373790.4	37	c.4449_splice	CCDS35325.1																																																																																				0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	In_Frame_Del	95	250						95	250	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	242						8	242	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			12	399						12	399	---	---	---	---
