#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
CHD5	26038	broad.mit.edu	37	1	6209438	6209438	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:6209438C>T	ENST00000262450.3	-	8	1128	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACAGTAATCCTGGTGGTCTG	0.577																																						uc001amb.1																			0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(1027-1029)CAG>CAA		chromodomain helicase DNA binding protein 5							121.0	87.0	99.0					1																	6209438		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6209438C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1029G>A	1.37:g.6209438C>T						CHD5_uc001amc.1_5'Flank	p.Q343Q	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	8	1129	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	343			PHD-type 1.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.1029G>A	CCDS57.1																																																																																				0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
MACF1	23499	broad.mit.edu	37	1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:39763324C>G	ENST00000372915.3	+	20	2490	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	MACF1_ENST00000567887.1_Missense_Mutation_p.F833L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000564288.1_Missense_Mutation_p.F796L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	801					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443																																						uc010ois.1																			0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2401-2403)TTC>TTG		microfilament and actin filament cross-linker							139.0	134.0	136.0					1																	39763324		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39763324C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2403C>G	1.37:g.39763324C>G	ENSP00000362006:p.Phe801Leu					MACF1_uc001cda.1_Missense_Mutation_p.F709L|MACF1_uc001cdc.1_5'Flank|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	p.F801L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		22	2608	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	801					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2403C>G		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359814	0.61403	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	6.06	4.19	0.49359	.	.	.	.	.	D	0.89935	0.6859	L	0.36672	1.1	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.08055	0.003;0.003	D	0.84913	0.0849	9	0.49607	T	0.09	.	9.4037	0.38449	0.0:0.7837:0.0:0.2163	.	801;766	F8W8Q1;Q9UPN3-3	.;.	L	801;801;801;801;801;759;950;961	ENSP00000439537:F801L;ENSP00000362006:F801L;ENSP00000354573:F801L;ENSP00000313438:F801L;ENSP00000444364:F801L;ENSP00000435070:F759L;ENSP00000437059:F950L	ENSP00000313438:F801L	F	+	3	2	MACF1	39535911	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.643000	0.37217	0.884000	0.36064	0.655000	0.94253	TTC		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MPL	4352	broad.mit.edu	37	1	43812465	43812465	+	Missense_Mutation	SNP	C	C	T	rs373621350	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:43812465C>T	ENST00000372470.3	+	8	1210	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	MPL_ENST00000413998.2_Missense_Mutation_p.R390C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	390					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CCCTGTAGTGCGCCTCCCCAC	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						c|||	3	0.000599042	0.0	0.0	5008	,	,		18538	0.0		0.0	False		,,,				2504	0.0031				NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(1168-1170)CGC>TGC		myeloproliferative leukemia virus oncogene		C	CYS/ARG	0,4406		0,0,2203	97.0	91.0	93.0		1168	4.3	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPL	NM_005373.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	390/636	43812465	1,13005	2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812465C>T	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1168C>T	1.37:g.43812465C>T	ENSP00000361548:p.Arg390Cys					MPL_uc001civ.2_Missense_Mutation_p.R390C|MPL_uc009vwr.2_Missense_Mutation_p.R383C	p.R390C	NM_005373	NP_005364	P40238	TPOR_HUMAN			8	1213	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	390			Extracellular (Potential).		Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.1168C>T	CCDS483.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.429383	0.43122	0.0	1.16E-4	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.82255	-1.59;-1.59	5.19	4.27	0.50696	Fibronectin, type III (2);	0.322750	0.33572	N	0.004772	T	0.71005	0.3289	N	0.08118	0	0.38992	D	0.959168	P;D;P	0.63046	0.923;0.992;0.947	B;P;B	0.46339	0.328;0.513;0.27	T	0.76844	-0.2809	10	0.62326	D	0.03	-13.2757	11.8954	0.52654	0.0:0.8242:0.1758:0.0	.	383;390;390	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	C	390	ENSP00000361548:R390C;ENSP00000414004:R390C	ENSP00000361546:R390C	R	+	1	0	MPL	43585052	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.485000	0.45250	1.173000	0.42796	-0.474000	0.04947	CGC		0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
EPS8L3	79574	broad.mit.edu	37	1	110293381	110293381	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:110293381G>A	ENST00000361965.4	-	18	1777	c.1671C>T	c.(1669-1671)agC>agT	p.S557S	EPS8L3_ENST00000369805.3_Silent_p.S558S|EPS8L3_ENST00000361852.4_Silent_p.S527S|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	557						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GAAGTAGCTGGCTCCCCGTCA	0.607																																						uc001dyr.1																			0				ovary(2)|skin(1)	3						c.(1669-1671)AGC>AGT		epidermal growth factor receptor pathway							66.0	51.0	56.0					1																	110293381		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110293381G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1671C>T	1.37:g.110293381G>A						EPS8L3_uc001dys.1_Silent_p.S527S|EPS8L3_uc001dyq.1_Silent_p.S558S|EPS8L3_uc009wfm.1_Silent_p.S494S	p.S557S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	18	1816	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	557					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1671C>T	CCDS814.1																																																																																				0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526	
IGSF3	3321	broad.mit.edu	37	1	117150591	117150591	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:117150591T>A	ENST00000369486.3	-	5	1960	c.1195A>T	c.(1195-1197)Aac>Tac	p.N399Y	IGSF3_ENST00000369483.1_Missense_Mutation_p.N399Y|IGSF3_ENST00000318837.6_Missense_Mutation_p.N399Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	399					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGGGATGTTCTTGGGACGC	0.517																																						uc001egr.1																			0				ovary(2)	2						c.(1195-1197)AAC>TAC		immunoglobulin superfamily, member 3 isoform 2							102.0	110.0	107.0					1																	117150591		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117150591T>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1195A>T	1.37:g.117150591T>A	ENSP00000358498:p.Asn399Tyr					IGSF3_uc001egq.1_Missense_Mutation_p.N399Y|IGSF3_uc001egs.1_Missense_Mutation_p.N72Y	p.N399Y	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1900	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	399			Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1195A>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908307	0.72868	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03358	3.98;3.96;3.96	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.116244	0.64402	D	0.000015	T	0.05090	0.0136	L	0.27053	0.805	0.80722	D	1	P;D;P	0.89917	0.724;1.0;0.604	P;D;B	0.91635	0.573;0.999;0.369	T	0.47114	-0.9142	10	0.54805	T	0.06	-59.7763	12.3628	0.55213	0.0:0.0:0.0:1.0	.	399;399;399	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	Y	399	ENSP00000358498:N399Y;ENSP00000358495:N399Y;ENSP00000321184:N399Y	ENSP00000321184:N399Y	N	-	1	0	IGSF3	116952114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.078000	0.62432	0.455000	0.32223	AAC		0.517	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:152749094C>T	ENST00000334371.2	+	1	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701																																						uc010pdv.1																			0					0						c.(247-249)CGT>TGT		late cornified envelope 1F							22.0	26.0	24.0					1																	152749094		2203	4298	6501	SO:0001583	missense	353137				keratinization			g.chr1:152749094C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.247C>T	1.37:g.152749094C>T	ENSP00000334187:p.Arg83Cys						p.R83C	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		83			Poly-Arg.			Missense_Mutation	SNP	ENST00000334371.2	37	c.247C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	8.163	0.789870	0.16258	.	.	ENSG00000240386	ENST00000334371	T	0.04406	3.63	4.45	3.46	0.39613	.	0.268702	0.18250	N	0.146987	T	0.05364	0.0142	M	0.65498	2.005	0.30214	N	0.797467	D	0.69078	0.997	P	0.51016	0.656	T	0.05007	-1.0912	10	0.87932	D	0	.	9.1314	0.36848	0.2177:0.7823:0.0:0.0	.	83	Q5T754	LCE1F_HUMAN	C	83	ENSP00000334187:R83C	ENSP00000334187:R83C	R	+	1	0	LCE1F	151015718	0.007000	0.16637	0.983000	0.44433	0.400000	0.30750	1.238000	0.32707	2.445000	0.82738	0.557000	0.71058	CGT		0.701	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
OR10X1	128367	broad.mit.edu	37	1	158549258	158549258	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:158549258G>A	ENST00000368150.1	-	1	431	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATCTTAGAGGGTTACAGATGG	0.463																																						uc010pin.1																			0				ovary(1)	1						c.(430-432)AAC>AAT		olfactory receptor, family 10, subfamily X,							73.0	73.0	73.0					1																	158549258		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549258G>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.432C>T	1.37:g.158549258G>A							p.N144N	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	432	-	all_hematologic(112;0.0378)		144			Cytoplasmic (Potential).		Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.432C>T	CCDS30900.1																																																																																				0.463	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
TNFSF18	8995	broad.mit.edu	37	1	173010834	173010834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:173010834C>T	ENST00000404377.3	-	3	273	c.273G>A	c.(271-273)tgG>tgA	p.W91*	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.W69*	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	91					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGCCATTTGCCATTTTGAGG	0.353																																						uc001giu.2																			0				central_nervous_system(1)	1						c.(271-273)TGG>TGA		tumor necrosis factor (ligand) superfamily,							114.0	121.0	119.0					1																	173010834		2202	4299	6501	SO:0001587	stop_gained	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010834C>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.273G>A	1.37:g.173010834C>T	ENSP00000385470:p.Trp91*						p.W91*	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			3	274	-			91			Extracellular (Potential).		A9IQG8|O95852|Q6ISV1	Nonsense_Mutation	SNP	ENST00000404377.3	37	c.273G>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711105	0.89112	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0988	15.6019	0.76631	0.0:1.0:0.0:0.0	.	.	.	.	X	91;69	.	ENSP00000239468:W69X	W	-	3	0	TNFSF18	171277457	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.906000	0.39887	2.833000	0.97629	0.655000	0.94253	TGG		0.353	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092	
RASAL2	9462	broad.mit.edu	37	1	178427055	178427055	+	Silent	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:178427055A>T	ENST00000462775.1	+	12	2330	c.2205A>T	c.(2203-2205)ggA>ggT	p.G735G	RASAL2_ENST00000367649.3_Silent_p.G876G|RASAL2_ENST00000448150.3_Silent_p.G865G	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	735					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTTGACCGGAAGCCAGCTTT	0.572																																						uc001glr.2																			0				ovary(2)|breast(2)|large_intestine(1)	5						c.(2203-2205)GGA>GGT		RAS protein activator like 2 isoform 1							70.0	66.0	67.0					1																	178427055		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427055A>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2205A>T	1.37:g.178427055A>T						RASAL2_uc001glq.2_Silent_p.G876G|RASAL2_uc009wxc.2_Silent_p.G249G	p.G735G	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2330	+			735					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2205A>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	A	6.810	0.518439	0.13005	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.28	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5137	0.50509	0.7137:0.2863:0.0:0.0	.	.	.	.	X	286	.	.	K	+	1	0	RASAL2	176693678	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.463000	0.21972	1.988000	0.58038	0.533000	0.62120	AAG		0.572	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
OR2T3	343173	broad.mit.edu	37	1	248636975	248636975	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:248636975C>T	ENST00000359594.2	+	1	349	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			AGATGTTCTTCTACCTGACCC	0.537																																						uc001iel.1																			0				skin(1)	1						c.(322-324)TTC>TTT		olfactory receptor, family 2, subfamily T,							150.0	135.0	140.0					1																	248636975		2193	4298	6491	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636975C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.324C>T	1.37:g.248636975C>T							p.F108F	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	324	+	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)		108			Helical; Name=3; (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.324C>T	CCDS31117.1																																																																																				0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
PTEN	5728	broad.mit.edu	37	10	89692852	89692856	+	Frame_Shift_Del	DEL	AAGTG	AAGTG	-	rs587781254		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:89692852_89692856delAAGTG	ENST00000371953.3	+	5	1693_1697	c.336_340delAAGTG	c.(334-342)ctaagtgaafs	p.SE113fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	113	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L112fs*3(1)|p.E114*(1)|p.S113fs*9(1)|p.S113R(1)|p.S113fs*20(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCAATGGCTAAGTGAAGATGACAA	0.376		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	p.L112V(4)|p.R55fs*1(4)|p.?(2)|p.L112P(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L112fs*3(1)|p.L112R(1)|p.E114*(1)|p.S113fs*9(1)|p.S113R(1)|p.S113fs*20(1)|p.F56fs*2(1)|p.L112Q(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(334-342)CTAAGTGAAfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692852_89692856delAAGTG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.336_340delAAGTG	10.37:g.89692852_89692856delAAGTG	ENSP00000361021:p.Ser113fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L112fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1367_1371	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	112_114			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.336_340delAAGTG	CCDS31238.1																																																																																				0.376	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CYP2C8	1558	broad.mit.edu	37	10	96827103	96827103	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:96827103T>G	ENST00000371270.3	-	3	437	c.343A>C	c.(343-345)Agc>Cgc	p.S115R	CYP2C8_ENST00000535898.1_Missense_Mutation_p.S13R|CYP2C8_ENST00000539050.1_Missense_Mutation_p.S29R	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	115					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TTTCCATTGCTGGAAATGATT	0.483																																						uc001kkb.2																			0					0						c.(343-345)AGC>CGC		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						80.0	78.0	79.0					10																	96827103		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827103T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.343A>C	10.37:g.96827103T>G	ENSP00000360317:p.Ser115Arg					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.S45R|CYP2C8_uc010qob.1_Missense_Mutation_p.S29R|CYP2C8_uc010qoc.1_Missense_Mutation_p.S13R|CYP2C8_uc010qod.1_Missense_Mutation_p.S29R	p.S115R	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	3	438	-		Colorectal(252;0.0397)	115					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.343A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897010	0.33535	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70164	-0.46;-0.46;-0.46	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.82444	0.5038	M	0.84585	2.705	0.41091	D	0.985594	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;1.0;0.999	D	0.85807	0.1377	10	0.87932	D	0	.	13.0097	0.58724	0.0:0.0:0.0:1.0	.	29;13;83;115	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	R	115;82;13;29	ENSP00000360317:S115R;ENSP00000445062:S13R;ENSP00000442343:S29R	ENSP00000360317:S115R	S	-	1	0	CYP2C8	96817093	0.928000	0.31464	0.863000	0.33907	0.042000	0.13812	2.362000	0.44169	1.962000	0.57031	0.459000	0.35465	AGC		0.483	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
DUSP5	1847	broad.mit.edu	37	10	112269798	112269798	+	Missense_Mutation	SNP	G	G	A	rs373903086		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:112269798G>A	ENST00000369583.3	+	4	1053	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	257	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAAAAGGGAGGCAAGGTCCT	0.512																																						uc001kzd.2																			0				upper_aerodigestive_tract(1)	1						c.(769-771)GGC>AGC		dual specificity phosphatase 5		G	SER/GLY	0,4406		0,0,2203	65.0	63.0	63.0		769	5.2	1.0	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP5	NM_004419.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	257/385	112269798	1,13005	2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112269798G>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.769G>A	10.37:g.112269798G>A	ENSP00000358596:p.Gly257Ser						p.G257S	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	4	1024	+		Breast(234;0.0848)	257			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.769G>A	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051714	0.93793	0.0	1.16E-4	ENSG00000138166	ENST00000369583	T	0.64991	-0.13	6.08	5.16	0.70880	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.044236	0.85682	D	0.000000	T	0.78130	0.4235	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80542	-0.1336	10	0.62326	D	0.03	.	15.7413	0.77899	0.0:0.0:0.8626:0.1374	.	257	Q16690	DUS5_HUMAN	S	257	ENSP00000358596:G257S	ENSP00000358596:G257S	G	+	1	0	DUSP5	112259788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	1.534000	0.49203	0.655000	0.94253	GGC		0.512	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	
HABP2	3026	broad.mit.edu	37	10	115341658	115341658	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:115341658C>A	ENST00000351270.3	+	9	958	c.862C>A	c.(862-864)Ccc>Acc	p.P288T	HABP2_ENST00000542051.1_Missense_Mutation_p.P262T|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	288					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGAGGAAAGCCCCACTGAGCC	0.507																																						uc001lai.3																			0				ovary(2)|skin(1)	3						c.(862-864)CCC>ACC		hyaluronan binding protein 2 preproprotein							135.0	135.0	135.0					10																	115341658		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115341658C>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.862C>A	10.37:g.115341658C>A	ENSP00000277903:p.Pro288Thr					HABP2_uc010qrz.1_Intron	p.P288T	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	9	965	+		Colorectal(252;0.0233)|Breast(234;0.0672)	288					A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.862C>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.755954	0.15846	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.87650	-2.28;-2.28	5.97	4.11	0.48088	Kringle-like fold (1);	0.553095	0.20871	N	0.084176	T	0.80989	0.4730	L	0.53249	1.67	0.09310	N	0.999995	B	0.24368	0.102	B	0.18263	0.021	T	0.66006	-0.6030	10	0.25106	T	0.35	.	6.6414	0.22911	0.146:0.706:0.0:0.148	.	288	Q14520	HABP2_HUMAN	T	262;288	ENSP00000443283:P262T;ENSP00000277903:P288T	ENSP00000277903:P288T	P	+	1	0	HABP2	115331648	0.721000	0.28007	0.012000	0.15200	0.041000	0.13682	3.847000	0.55895	0.841000	0.35020	0.655000	0.94253	CCC		0.507	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
OR5B3	441608	broad.mit.edu	37	11	58170350	58170350	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:58170350T>A	ENST00000309403.2	-	1	532	c.533A>T	c.(532-534)gAt>gTt	p.D178V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGGAATATCACAGAAAAA	0.423																																						uc010rkf.1																			0					0						c.(532-534)GAT>GTT		olfactory receptor, family 5, subfamily B,							100.0	94.0	96.0					11																	58170350		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170350T>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.533A>T	11.37:g.58170350T>A	ENSP00000308270:p.Asp178Val						p.D178V	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	533	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	178			Extracellular (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.533A>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	t	11.96	1.795839	0.31777	.	.	ENSG00000172769	ENST00000309403	T	0.00193	8.58	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.00815	0.0027	H	0.95504	3.68	0.50171	D	0.999856	D	0.89917	1.0	D	0.85130	0.997	T	0.53906	-0.8372	10	0.87932	D	0	-50.0067	12.2401	0.54538	0.0:0.0:0.0:1.0	.	178	Q8NH48	OR5B3_HUMAN	V	178	ENSP00000308270:D178V	ENSP00000308270:D178V	D	-	2	0	OR5B3	57926926	1.000000	0.71417	0.954000	0.39281	0.150000	0.21749	3.829000	0.55760	1.835000	0.53391	0.528000	0.53228	GAT		0.423	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
CASP1	834	broad.mit.edu	37	11	104899923	104899923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:104899923C>A	ENST00000533400.1	-	7	969	c.934G>T	c.(934-936)Gag>Tag	p.E312*	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Nonsense_Mutation_p.E291*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.E275*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.E219*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.E312*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.E291*|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Nonsense_Mutation_p.E312*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.E291*|CASP1_ENST00000528974.1_Nonsense_Mutation_p.E273*|CASP1_ENST00000594519.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	312					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCTCAAACTCTTCTGTAGTT	0.408																																					NSCLC(41;1246 1743 4934)	uc010rve.1																			0				ovary(2)	2						c.(934-936)GAG>TAG		caspase 1 isoform alpha precursor	Minocycline(DB01017)|Penicillamine(DB00859)						101.0	93.0	95.0					11																	104899923		2202	4299	6501	SO:0001587	stop_gained	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104899923C>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.934G>T	11.37:g.104899923C>A	ENSP00000433138:p.Glu312*					CASP1_uc001pig.2_Nonsense_Mutation_p.E219*|CASP1_uc001pik.2_Nonsense_Mutation_p.E275*|CASP1_uc010rvf.1_Nonsense_Mutation_p.E219*|CASP1_uc010rvg.1_Nonsense_Mutation_p.E291*|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Nonsense_Mutation_p.E312*|CASP1_uc009yxi.2_Nonsense_Mutation_p.E291*|CASP1_uc010rvj.1_Nonsense_Mutation_p.E312*|CASP1_uc009yxj.2_Nonsense_Mutation_p.E157*|CASP1_uc010rvk.1_Nonsense_Mutation_p.E273*	p.E312*	NM_033292	NP_150634	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	7	951	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	312					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	ENST00000533400.1	37	c.934G>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	19.39	3.818962	0.71028	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	.	.	.	3.12	2.2	0.27929	.	1.010960	0.07938	N	0.978781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.661	0.34093	0.0:0.8808:0.0:0.1192	.	.	.	.	X	161;219;275;312;312;291;291;273	.	ENSP00000376844:E291X	E	-	1	0	CASP1	104405133	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.758000	0.26447	0.888000	0.36160	0.557000	0.71058	GAG		0.408	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292	
OR8D1	283159	broad.mit.edu	37	11	124179842	124179842	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124179842G>A	ENST00000357821.2	-	1	891	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAACACAGAGGACACCTTCTC	0.463																																						uc010sag.1																			0				ovary(2)|skin(1)	3						c.(820-822)TCC>TTC		olfactory receptor, family 8, subfamily D,							111.0	106.0	108.0					11																	124179842		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179842G>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.821C>T	11.37:g.124179842G>A	ENSP00000350474:p.Ser274Phe						p.S274F	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	821	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	274			Helical; Name=7; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.821C>T	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	8.889	0.953441	0.18431	.	.	ENSG00000196341	ENST00000357821	T	0.34859	1.34	4.29	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36066	U	0.002801	T	0.32466	0.0830	N	0.05330	-0.07	0.09310	N	1	D	0.69078	0.997	D	0.72075	0.976	T	0.03684	-1.1013	10	0.66056	D	0.02	.	6.0217	0.19632	0.4262:0.0:0.5738:0.0	.	274	Q8WZ84	OR8D1_HUMAN	F	274	ENSP00000350474:S274F	ENSP00000350474:S274F	S	-	2	0	OR8D1	123685052	0.000000	0.05858	0.123000	0.21794	0.002000	0.02628	0.155000	0.16362	1.041000	0.40125	-0.363000	0.07495	TCC		0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917	
OR8B4	283162	broad.mit.edu	37	11	124294437	124294439	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124294437_124294439delACT	ENST00000356130.3	-	1	350_352	c.329_331delAGT	c.(328-333)gagtgc>ggc	p.110_111EC>G		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACACATAGCACTCAGAATTGAC	0.433																																						uc010sak.1																			0				skin(1)	1						c.(328-333)GAGTGC>GGC		olfactory receptor, family 8, subfamily B,																																				SO:0001651	inframe_deletion	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294437_124294439delACT	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.329_331delAGT	11.37:g.124294437_124294439delACT	ENSP00000348449:p.Glu110_Cys111delinsGly						p.110_111EC>G	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	329_331	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	110_111			Helical; Name=3; (Potential).		B2RNF8|Q6IFQ7	In_Frame_Del	DEL	ENST00000356130.3	37	c.329_331delAGT	CCDS31710.1																																																																																				0.433	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196	
DYRK4	8798	broad.mit.edu	37	12	4708241	4708241	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:4708241G>A	ENST00000540757.2	+	7	768	c.608G>A	c.(607-609)aGt>aAt	p.S203N	DYRK4_ENST00000543431.1_Missense_Mutation_p.S203N|DYRK4_ENST00000010132.5_Missense_Mutation_p.S203N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGTCTGTCCATA	0.413																																						uc001qmx.2																			0				lung(2)|skin(1)	3						c.(607-609)AGT>AAT		dual-specificity tyrosine-(Y)-phosphorylation							161.0	154.0	156.0					12																	4708241		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708241G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.608G>A	12.37:g.4708241G>A	ENSP00000441755:p.Ser203Asn					DYRK4_uc009zeh.1_Missense_Mutation_p.S318N|DYRK4_uc001qmy.1_Missense_Mutation_p.S203N	p.S203N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		7	768	+			203			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.608G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818036	0.50633	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.29	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044789	0.85682	N	0.000000	T	0.17916	0.0430	N	0.21194	0.64	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.15484	0.007;0.005;0.013	T	0.03423	-1.1038	10	0.59425	D	0.04	.	10.4459	0.44495	0.0752:0.1341:0.7907:0.0	.	318;203;203	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	318;203;203;203	ENSP00000437534:S318N;ENSP00000441755:S203N;ENSP00000010132:S203N;ENSP00000439697:S203N	ENSP00000010132:S203N	S	+	2	0	DYRK4	4578502	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.662000	0.83803	1.193000	0.43086	0.555000	0.69702	AGT		0.413	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.1																			0					0						c.(319-321)GGC>CGC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R	NR_003932						1	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
PIK3C2G	5288	broad.mit.edu	37	12	18658296	18658296	+	Missense_Mutation	SNP	G	G	A	rs371412006		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:18658296G>A	ENST00000266497.5	+	22	3139	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1075H|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.R1034H			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1034	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.R1034H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATGTGACCGTCACAATGAT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17323	0.0		0.0	False		,,,				2504	0.001					uc001rdt.2																			2	Substitution - Missense(2)		prostate(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3100-3102)CGT>CAT		phosphoinositide-3-kinase, class 2 gamma		G	HIS/ARG	0,3854		0,0,1927	125.0	108.0	114.0		3101	4.5	1.0	12		114	3,8307		0,3,4152	no	missense	PIK3C2G	NM_004570.4	29	0,3,6079	AA,AG,GG		0.0361,0.0,0.0247	probably-damaging	1034/1446	18658296	3,12161	1927	4155	6082	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658296G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3101G>A	12.37:g.18658296G>A	ENSP00000266497:p.Arg1034His					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R1075H|PIK3C2G_uc010sic.1_Missense_Mutation_p.R853H	p.R1034H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			23	3217	+		Hepatocellular(102;0.194)	1034			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3101G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880028	0.91740	0.0	3.61E-4	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.98914	-5.23;-5.23;-5.23	4.47	4.47	0.54385	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.135869	0.50627	D	0.000108	D	0.99477	0.9814	H	0.97240	3.965	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	D	0.97988	1.0353	10	0.87932	D	0	-15.9827	17.403	0.87465	0.0:0.0:1.0:0.0	.	1074;1075;1034	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	H	1034;1034;1075	ENSP00000404845:R1034H;ENSP00000266497:R1034H;ENSP00000445381:R1075H	ENSP00000266497:R1034H	R	+	2	0	PIK3C2G	18549563	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.524000	0.98036	2.771000	0.95319	0.650000	0.86243	CGT		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
ALX1	8092	broad.mit.edu	37	12	85695206	85695206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:85695206C>T	ENST00000316824.3	+	4	1089	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	312					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGCAGTTCTTCGAATGAAAGC	0.378																																						uc001tae.3																			0				ovary(1)|central_nervous_system(1)	2						c.(934-936)CGA>TGA		cartilage paired-class homeoprotein 1							90.0	87.0	88.0					12																	85695206		2203	4300	6503	SO:0001587	stop_gained	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695206C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.934C>T	12.37:g.85695206C>T	ENSP00000315417:p.Arg312*						p.R312*	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	938	+			312			OAR.		Q546C8|Q96FH4	Nonsense_Mutation	SNP	ENST00000316824.3	37	c.934C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266449	0.95399	.	.	ENSG00000180318	ENST00000316824	.	.	.	6.17	5.26	0.73747	.	0.116529	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5537	0.84479	0.1352:0.8648:0.0:0.0	.	.	.	.	X	312	.	ENSP00000315417:R312X	R	+	1	2	ALX1	84219337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	1.564000	0.49628	0.655000	0.94253	CGA		0.378	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	
ACACB	32	broad.mit.edu	37	12	109687832	109687832	+	Missense_Mutation	SNP	G	G	A	rs182648370		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:109687832G>A	ENST00000338432.7	+	41	5832	c.5713G>A	c.(5713-5715)Gtg>Atg	p.V1905M	ACACB_ENST00000377848.3_Missense_Mutation_p.V1905M|ACACB_ENST00000377854.5_Missense_Mutation_p.V1835M|ACACB_ENST00000543201.1_Missense_Mutation_p.V571M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1905	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGGCTTGGGCGTGGAGAATCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		17992	0.0		0.001	False		,,,				2504	0.0					uc001tob.2																			0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(5713-5715)GTG>ATG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)	G	MET/VAL	0,4406		0,0,2203	156.0	145.0	149.0		5713	3.8	1.0	12		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1905/2459	109687832	1,13005	2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109687832G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5713G>A	12.37:g.109687832G>A	ENSP00000341044:p.Val1905Met					ACACB_uc001toc.2_Missense_Mutation_p.V1905M|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.V571M	p.V1905M	NM_001093	NP_001084	O00763	ACACB_HUMAN			41	5832	+			1905			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5713G>A	CCDS31898.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.54	2.564832	0.45694	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81	5.58	3.77	0.43336	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.119890	0.56097	N	0.000031	D	0.98324	0.9444	H	0.95079	3.62	0.80722	D	1	P	0.40731	0.728	B	0.41236	0.351	D	0.97670	1.0166	10	0.87932	D	0	.	12.6349	0.56677	0.1345:0.0:0.8655:0.0	.	1905	O00763	ACACB_HUMAN	M	1905;1905;1835;1136;571;14	ENSP00000341044:V1905M;ENSP00000367079:V1905M;ENSP00000367085:V1835M;ENSP00000444075:V571M	ENSP00000341044:V1905M	V	+	1	0	ACACB	108172215	1.000000	0.71417	0.986000	0.45419	0.003000	0.03518	5.795000	0.69074	0.845000	0.35118	-0.136000	0.14681	GTG		0.493	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
GCN1L1	10985	broad.mit.edu	37	12	120582480	120582480	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:120582480G>A	ENST00000300648.6	-	41	5327	c.5315C>T	c.(5314-5316)aCt>aTt	p.T1772I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1772					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACATAAGGAGTAAACTTGTC	0.512																																						uc001txo.2																			0				ovary(4)	4						c.(5314-5316)ACT>ATT		GCN1 general control of amino-acid synthesis							136.0	136.0	136.0					12																	120582480		2003	4173	6176	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582480G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5315C>T	12.37:g.120582480G>A	ENSP00000300648:p.Thr1772Ile						p.T1772I	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			41	5328	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1772					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.5315C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092034	0.55968	.	.	ENSG00000089154	ENST00000300648	T	0.64618	-0.11	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.047409	0.85682	D	0.000000	T	0.55194	0.1905	L	0.41824	1.3	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.47837	-0.9086	10	0.40728	T	0.16	.	15.517	0.75833	0.0676:0.0:0.9324:0.0	.	1772	Q92616	GCN1L_HUMAN	I	1772	ENSP00000300648:T1772I	ENSP00000300648:T1772I	T	-	2	0	GCN1L1	119066863	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.406000	0.73276	2.824000	0.97209	0.655000	0.94253	ACT		0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
ZC3H13	23091	broad.mit.edu	37	13	46549530	46549530	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:46549530G>A	ENST00000242848.4	-	12	2704	c.2356C>T	c.(2356-2358)Cgc>Tgc	p.R786C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R786C			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	786	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCCTTTGGCGTTCTCGTTCT	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0				ovary(1)|lung(1)	2						c.(2356-2358)CGC>TGC		zinc finger CCCH-type containing 13							442.0	360.0	387.0					13																	46549530		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46549530G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2356C>T	13.37:g.46549530G>A	ENSP00000242848:p.Arg786Cys					ZC3H13_uc001vas.1_Missense_Mutation_p.R786C|ZC3H13_uc001vat.1_Missense_Mutation_p.R786C	p.R786C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	11	2362	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	786			Arg/Glu-rich.|Potential.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2356C>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.851960	0.32699	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38722	2.11;1.12	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000075	T	0.63200	0.2491	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.67231	0.818;0.95	T	0.61917	-0.6964	9	0.40728	T	0.16	.	17.6956	0.88281	0.0:0.0:1.0:0.0	.	786;786	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	C	786	ENSP00000242848:R786C;ENSP00000282007:R786C	ENSP00000242848:R786C	R	-	1	0	ZC3H13	45447531	1.000000	0.71417	0.438000	0.26821	0.841000	0.47740	6.231000	0.72307	2.526000	0.85167	0.313000	0.20887	CGC		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
PCID2	55795	broad.mit.edu	37	13	113834511	113834511	+	Missense_Mutation	SNP	T	T	A	rs193206568		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:113834511T>A	ENST00000337344.4	-	11	897	c.821A>T	c.(820-822)tAt>tTt	p.Y274F	PCID2_ENST00000375457.2_Missense_Mutation_p.Y272F|PCID2_ENST00000375459.1_Missense_Mutation_p.Y272F|PCID2_ENST00000246505.5_Missense_Mutation_p.Y328F|PCID2_ENST00000375479.2_Missense_Mutation_p.Y274F|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Missense_Mutation_p.Y274F	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCAGGTGATACTTTTTCAG	0.413																																						uc010tju.1																			0					0						c.(820-822)TAT>TTT		PCI domain containing 2							129.0	124.0	126.0					13																	113834511		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113834511T>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.821A>T	13.37:g.113834511T>A	ENSP00000337405:p.Tyr274Phe					PCID2_uc001vtb.2_Missense_Mutation_p.Y107F|PCID2_uc010tjv.1_Missense_Mutation_p.Y274F|PCID2_uc010tjw.1_Missense_Mutation_p.Y274F|PCID2_uc001vte.2_Missense_Mutation_p.Y167F|PCID2_uc001vtd.2_Missense_Mutation_p.Y167F|PCID2_uc001vtf.2_Missense_Mutation_p.Y167F	p.Y274F	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		11	902	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	274					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.821A>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903144	0.72754	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.85	4.62	0.57501	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.52759	1.655	0.80722	D	1	D;P	0.53312	0.959;0.773	P;P	0.58210	0.835;0.456	T	0.57254	-0.7843	9	0.15952	T	0.53	-28.3082	13.2496	0.60043	0.0:0.0:0.132:0.868	.	328;274	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	F	274;274;274;328;272;272;251;274;251	.	ENSP00000246505:Y328F	Y	-	2	0	PCID2	112882512	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	5.948000	0.70249	2.233000	0.73108	0.533000	0.62120	TAT		0.413	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
OR4E2	26686	broad.mit.edu	37	14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	rs376029887		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393																																						uc010tmd.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(925-927)ACG>ATG		olfactory receptor, family 4, subfamily E,							33.0	30.0	31.0					14																	22134222		1924	4142	6066	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134222C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.926C>T	14.37:g.22134222C>T	ENSP00000386195:p.Thr309Met						p.T309M	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	926	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	309			Cytoplasmic (Potential).		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.926C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	c	1.122	-0.655064	0.03480	.	.	ENSG00000221977	ENST00000408935	T	0.11169	2.8	5.76	0.553	0.17235	.	.	.	.	.	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	0.999999	B	0.14805	0.011	B	0.06405	0.002	T	0.36601	-0.9741	9	0.42905	T	0.14	.	6.5188	0.22262	0.2067:0.1356:0.0:0.6577	.	309	Q8NGC2	OR4E2_HUMAN	M	309	ENSP00000386195:T309M	ENSP00000386195:T309M	T	+	2	0	OR4E2	21204062	0.003000	0.15002	0.163000	0.22734	0.253000	0.25986	-0.232000	0.09055	-0.079000	0.12707	-2.249000	0.00283	ACG		0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1		
JAG2	3714	broad.mit.edu	37	14	105622280	105622280	+	Silent	SNP	C	C	T	rs200966804	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:105622280C>T	ENST00000331782.3	-	4	925	c.522G>A	c.(520-522)ccG>ccA	p.P174P	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.P174P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	174					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGGTCCTCCGGGTTGATCA	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16241	0.0		0.0	False		,,,				2504	0.0					uc001yqg.2																			0				lung(3)|breast(2)	5						c.(520-522)CCG>CCA		jagged 2 isoform a precursor		C	,	1,4399	2.1+/-5.4	0,1,2199	38.0	33.0	35.0		522,522	-8.7	0.6	14		35	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	,	174/1239,174/1201	105622280	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622280C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.522G>A	14.37:g.105622280C>T						JAG2_uc001yqh.2_Silent_p.P174P	p.P174P	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	926	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	174			Extracellular (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.522G>A	CCDS9998.1																																																																																				0.652	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
UNC13C	440279	broad.mit.edu	37	15	54786821	54786821	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:54786821G>A	ENST00000260323.11	+	19	4949	c.4949G>A	c.(4948-4950)cGg>cAg	p.R1650Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1648Q|UNC13C_ENST00000545554.1_Missense_Mutation_p.R1650Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1650	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAATCAGCGGTTATGCAAG	0.308																																						uc002ack.2																			0				ovary(5)|pancreas(2)	7						c.(4948-4950)CGG>CAG		unc-13 homolog C							82.0	76.0	77.0					15																	54786821		1809	4063	5872	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786821G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4949G>A	15.37:g.54786821G>A	ENSP00000260323:p.Arg1650Gln						p.R1650Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	18	4949	+			1650			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4949G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311890	0.95655	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82526	-1.6;-1.62;-1.61	5.87	5.87	0.94306	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	M	0.85197	2.74	0.58432	D	0.999993	D	0.89917	1.0	D	0.63957	0.92	D	0.91790	0.5443	10	0.62326	D	0.03	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	1650	Q8NB66	UN13C_HUMAN	Q	1650;1650;1648	ENSP00000260323:R1650Q;ENSP00000438156:R1650Q;ENSP00000442569:R1648Q	ENSP00000260323:R1650Q	R	+	2	0	UNC13C	52574113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.716000	0.68437	2.941000	0.99782	0.655000	0.94253	CGG		0.308	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
CSK	1445	broad.mit.edu	37	15	75092831	75092831	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:75092831G>A	ENST00000220003.9	+	6	1270	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CSK_ENST00000439220.2_Missense_Mutation_p.D181N|CSK_ENST00000567571.1_Missense_Mutation_p.D181N|CSK_ENST00000309470.9_Missense_Mutation_p.D181N	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	181					adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GGCGGCCCAGGATGAGTTCTA	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010bkb.1																			0				lung(2)|central_nervous_system(1)	3						c.(541-543)GAT>AAT		c-src tyrosine kinase							98.0	84.0	89.0					15																	75092831		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75092831G>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.541G>A	15.37:g.75092831G>A	ENSP00000220003:p.Asp181Asn		OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1157	CSK_uc002ays.2_Missense_Mutation_p.D181N|CSK_uc010bkc.1_5'UTR	p.D181N	NM_001127190	NP_001120662	P41240	CSK_HUMAN			7	724	+			181					Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.541G>A	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325748	0.81580	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.75589	-0.95;-0.95;-0.95	5.35	5.35	0.76521	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	L	0.59436	1.845	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.67845	-0.5565	10	0.44086	T	0.13	-22.1392	18.8481	0.92215	0.0:0.0:1.0:0.0	.	181	P41240	CSK_HUMAN	N	181;181;130;181	ENSP00000220003:D181N;ENSP00000414764:D181N;ENSP00000438808:D181N	ENSP00000220003:D181N	D	+	1	0	CSK	72879884	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.122000	0.94380	2.790000	0.95986	0.591000	0.81541	GAT		0.632	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383	
ADAMTS7	11173	broad.mit.edu	37	15	79057006	79057006	+	Missense_Mutation	SNP	C	C	T	rs200895233	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:79057006C>T	ENST00000388820.4	-	20	4520	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1437	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGCTACAGCGCACCGGCCT	0.726													c|||	2	0.000399361	0.0	0.0029	5008	,	,		12781	0.0		0.0	False		,,,				2504	0.0					uc002bej.3																			0					0						c.(4309-4311)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1		C	HIS/ARG	1,4301		0,1,2150	11.0	13.0	12.0		4310	0.2	0.7	15		12	9,8515		0,9,4253	no	missense	ADAMTS7	NM_014272.3	29	0,10,6403	TT,TC,CC		0.1056,0.0232,0.078	probably-damaging	1437/1687	79057006	10,12816	2151	4262	6413	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79057006C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4310G>A	15.37:g.79057006C>T	ENSP00000373472:p.Arg1437His						p.R1437H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			20	4521	-			1437			TSP type-1 5.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4310G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.294784	0.60086	2.32E-4	0.001056	ENSG00000136378	ENST00000388820	T	0.54866	0.55	4.47	0.248	0.15526	.	0.551628	0.19377	N	0.115750	T	0.55114	0.1900	L	0.60904	1.88	0.27873	N	0.939978	D	0.71674	0.998	P	0.58577	0.841	T	0.52253	-0.8600	10	0.14252	T	0.57	.	8.4946	0.33121	0.0:0.6514:0.0:0.3486	.	1437	Q9UKP4	ATS7_HUMAN	H	1437	ENSP00000373472:R1437H	ENSP00000373472:R1437H	R	-	2	0	ADAMTS7	76844061	0.004000	0.15560	0.719000	0.30619	0.478000	0.33099	-0.361000	0.07612	0.019000	0.15079	0.472000	0.43445	CGC		0.726	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ALPK3	57538	broad.mit.edu	37	15	85383056	85383056	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:85383056C>T	ENST00000258888.5	+	5	1319	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	384					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGCTGGTTCGCCAAGTTGA	0.617																																						uc002ble.2																			0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(1150-1152)TTC>TTT		alpha-kinase 3							70.0	66.0	67.0					15																	85383056		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383056C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1152C>T	15.37:g.85383056C>T							p.F384F	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1319	+			384					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1152C>T	CCDS10333.1																																																																																				0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
BLM	641	broad.mit.edu	37	15	91341566	91341566	+	Splice_Site	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:91341566G>A	ENST00000355112.3	+	17	3475	c.3357G>A	c.(3355-3357)ttG>ttA	p.L1119L	BLM_ENST00000560509.1_Splice_Site_p.L1119L|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1119					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACATTTTCTTGGGTAAGTCAT	0.294			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2			yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(3355-3357)TTG>TTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							122.0	123.0	123.0					15																	91341566		2198	4295	6493	SO:0001630	splice_region_variant	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91341566G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3358+1G>A	15.37:g.91341566G>A						BLM_uc010uqh.1_Silent_p.L1119L|BLM_uc010uqi.1_Silent_p.L744L|BLM_uc010bnx.2_Silent_p.L1119L|BLM_uc002bpt.2_Silent_p.L94L	p.L1119L	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		17	3454	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1119					Q52M96	Silent	SNP	ENST00000355112.3	37	c.3357G>A	CCDS10363.1																																																																																				0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		Silent
MEF2A	4205	broad.mit.edu	37	15	100230604	100230604	+	Missense_Mutation	SNP	C	C	G	rs373219260		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:100230604C>G	ENST00000557785.1	+	8	1178	c.829C>G	c.(829-831)Cct>Gct	p.P277A	MEF2A_ENST00000558812.1_Missense_Mutation_p.P209A|MEF2A_ENST00000453228.2_Missense_Mutation_p.P277A|MEF2A_ENST00000354410.5_Missense_Mutation_p.P279A|MEF2A_ENST00000338042.6_Missense_Mutation_p.P277A|MEF2A_ENST00000449277.2_Missense_Mutation_p.P209A|MEF2A_ENST00000557942.1_Missense_Mutation_p.P277A	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	279	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGTCATCCCCCCTTCAAGCAA	0.428																																						uc010urw.1																			0				ovary(1)	1						c.(835-837)CCT>GCT		myocyte enhancer factor 2A isoform 1							56.0	55.0	55.0					15																	100230604		1901	4117	6018	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230604C>G		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.829C>G	15.37:g.100230604C>G	ENSP00000453441:p.Pro277Ala					MEF2A_uc010urv.1_Missense_Mutation_p.P209A|MEF2A_uc010bos.2_Missense_Mutation_p.P277A|MEF2A_uc002bvf.2_Missense_Mutation_p.P279A|MEF2A_uc002bve.2_Missense_Mutation_p.P277A|MEF2A_uc002bvg.2_Missense_Mutation_p.P277A|MEF2A_uc002bvi.2_Missense_Mutation_p.P277A|MEF2A_uc010bot.2_Missense_Mutation_p.P209A	p.P279A	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		7	1194	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		279		P -> L.	Required for interaction with MAPKs.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.835C>G	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776832	0.49786	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.85	4.94	0.65067	.	0.096997	0.64402	D	0.000001	T	0.45094	0.1325	M	0.66939	2.045	0.42398	D	0.992554	B;B;D;D;B;D	0.89917	0.019;0.189;0.999;1.0;0.032;0.999	B;B;D;D;B;D	0.91635	0.029;0.065;0.991;0.999;0.065;0.996	T	0.46233	-0.9206	10	0.66056	D	0.02	-11.2521	14.5191	0.67840	0.0:0.9302:0.0:0.0698	.	279;209;198;277;279;277	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	A	277;279;277;209	ENSP00000404110:P277A;ENSP00000346389:P279A;ENSP00000337202:P277A;ENSP00000399460:P209A	ENSP00000337202:P277A	P	+	1	0	MEF2A	98048127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.658000	0.61497	1.478000	0.48253	0.650000	0.86243	CCT		0.428	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
DNM1P47	100216544	broad.mit.edu	37	15	102292811	102292811	+	RNA	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:102292811C>A	ENST00000561463.1	+	0	857									DNM1 pseudogene 47									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607																																						uc010usj.1																			1	Substitution - coding silent(1)		prostate(1)								c.(397-399)CGC>CGA		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102292811C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292811C>A						uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank	p.R133R							4	458	+									Silent	SNP	ENST00000561463.1	37	c.399C>A																																																																																					0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
ACSM2A	123876	broad.mit.edu	37	16	20494409	20494409	+	Silent	SNP	G	G	A	rs201744736		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:20494409G>A	ENST00000573854.1	+	13	1653	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ACSM2A_ENST00000219054.6_Silent_p.S513S|ACSM2A_ENST00000575690.1_Silent_p.S513S|ACSM2A_ENST00000396104.2_Silent_p.S513S|ACSM2A_ENST00000417235.2_Silent_p.S434S|ACSM2A_ENST00000536134.1_Silent_p.S285S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	513			S -> L (in dbSNP:rs1133607). {ECO:0000269|PubMed:10493829, ECO:0000269|PubMed:12654705, ECO:0000269|PubMed:16521160}.		fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCTGGCCTCGCAGTTCCTGT	0.498																																						uc010bwe.2																			0				skin(2)|breast(1)	3						c.(1537-1539)TCG>TCA		acyl-CoA synthetase medium-chain family member		G		1,4405	2.1+/-5.4	0,1,2202	198.0	176.0	184.0		1539	-6.5	1.0	16		184	0,8600		0,0,4300	no	coding-synonymous	ACSM2A	NM_001010845.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		513/578	20494409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494409G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1539G>A	16.37:g.20494409G>A						ACSM2A_uc002dhf.3_Silent_p.S513S|ACSM2A_uc002dhg.3_Silent_p.S513S|ACSM2A_uc010vay.1_Silent_p.S434S|ACSM2A_uc002dhh.3_Silent_p.S143S	p.S513S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1778	+			513					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1539G>A	CCDS32401.1																																																																																				0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
CDH5	1003	broad.mit.edu	37	16	66432371	66432371	+	Missense_Mutation	SNP	A	A	C	rs375598428		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:66432371A>C	ENST00000341529.3	+	10	1646	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GGTCCTGCAGATCTCCGCAAT	0.493																																						uc002eom.3																			0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1498-1500)ATC>CTC		cadherin 5, type 2 preproprotein							143.0	121.0	128.0					16																	66432371		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432371A>C	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1498A>C	16.37:g.66432371A>C	ENSP00000344115:p.Ile500Leu						p.I500L	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	10	1654	+		Ovarian(137;0.0955)	500			Cadherin 5.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1498A>C	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029462	0.75504	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.47177	0.85	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42471	0.1204	L	0.28400	0.85	0.80722	D	1	B	0.27910	0.193	B	0.38194	0.267	T	0.40496	-0.9560	9	0.46703	T	0.11	.	12.1099	0.53834	1.0:0.0:0.0:0.0	.	500	P33151	CADH5_HUMAN	L	500;385;241	ENSP00000344115:I500L	ENSP00000344115:I500L	I	+	1	0	CDH5	64989872	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	4.544000	0.60691	2.093000	0.63338	0.459000	0.35465	ATC		0.493	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
NF1	4763	broad.mit.edu	37	17	29556484	29556484	+	Splice_Site	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29556484G>A	ENST00000358273.4	+	21	3233		c.e21+1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGGACAGGTAAAGTGTTC	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		15	Whole gene deletion(8)|Unknown(7)	p.?(2)	soft_tissue(10)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CS031788|CS086413	NF1	S		c.e21+1		neurofibromin isoform 1							74.0	77.0	76.0					17																	29556484		2200	4297	6497	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556484G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2850+1G>A	17.37:g.29556484G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Splice_Site_p.Q950_splice|NF1_uc010csn.1_Splice_Site_p.Q810_splice|NF1_uc002hgi.1_5'UTR	p.Q950_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3183	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.2850_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073877	0.76415	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3532	0.94398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26580610	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.434000	0.97515	2.594000	0.87642	0.455000	0.32223	.		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
NF1	4763	broad.mit.edu	37	17	29683590	29683590	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29683590delT	ENST00000358273.4	+	52	8111	c.7728delT	c.(7726-7728)gatfs	p.D2576fs	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Del_p.D369fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.D2555fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2576					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGAAACTGATTATGAAATGG	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7726-7728)GATfs		neurofibromin isoform 1							84.0	71.0	75.0					17																	29683590		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29683590delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7728delT	17.37:g.29683590delT	ENSP00000351015:p.Asp2576fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.D2555fs|NF1_uc010cso.2_Frame_Shift_Del_p.D764fs|NF1_uc010wbt.1_Frame_Shift_Del_p.D54fs|NF1_uc010wbu.1_RNA	p.D2576fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	52	8061	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2576					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.7728delT	CCDS42292.1																																																																																				0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RAB11FIP4	84440	broad.mit.edu	37	17	29850996	29850997	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29850996_29850997delAC	ENST00000325874.8	+	9	1344_1345	c.1115_1116delAC	c.(1114-1116)aacfs	p.N372fs	RAB11FIP4_ENST00000394744.2_Frame_Shift_Del_p.N270fs	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	372	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AAGCAAGAGAACACACAGCTGG	0.599																																						uc002hgn.1																			0				skin(1)	1						c.(1114-1116)AACfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850996_29850997delAC	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.1115_1116delAC	17.37:g.29851000_29851001delAC	ENSP00000312837:p.Asn372fs					RAB11FIP4_uc002hgo.2_Frame_Shift_Del_p.N270fs	p.N372fs	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN			9	1344_1345	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	372			Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Del	DEL	ENST00000325874.8	37	c.1115_1116delAC	CCDS11267.1																																																																																				0.599	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
ANKRD30B	374860	broad.mit.edu	37	18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	rs9675365	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr18:14779969C>G	ENST00000358984.4	+	11	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	477			F -> L (in dbSNP:rs9675365).					p.F477L(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													C|||	2332	0.465655	0.4773	0.4265	5008	,	,		15526	0.4187		0.5159	False		,,,				2504	0.4744					uc010dlo.2																			2	Substitution - Missense(2)		prostate(2)	ovary(1)|skin(1)	2						c.(1429-1431)TTC>TTG		ankyrin repeat domain 30B							167.0	153.0	157.0					18																	14779969		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779969C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1431C>G	18.37:g.14779969C>G	ENSP00000351875:p.Phe477Leu					ANKRD30B_uc010xak.1_RNA	p.F477L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			11	1611	+			477					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1431C>G	CCDS54182.1	1018	0.4661172161172161	231	0.4695121951219512	157	0.43370165745856354	240	0.4195804195804196	390	0.5145118733509235	N	12.12	1.843849	0.32606	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.39406	1.08;1.4	1.69	-2.4	0.06583	.	.	.	.	.	T	0.00012	0.0000	L	0.47716	1.5	0.80722	P	0.0	B	0.30584	0.286	B	0.22753	0.041	T	0.48547	-0.9026	8	0.07990	T	0.79	.	0.2761	0.00238	0.3065:0.2974:0.1877:0.2084	rs9675365;rs52827349;rs59076177;rs9675365	477	F8WAG3	.	L	477	ENSP00000351875:F477L;ENSP00000399031:F477L	ENSP00000351875:F477L	F	+	3	2	ANKRD30B	14769969	0.988000	0.35896	0.000000	0.03702	0.155000	0.21991	0.095000	0.15127	-0.611000	0.05709	0.297000	0.19635	TTC		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
MISP	126353	broad.mit.edu	37	19	757476	757476	+	Missense_Mutation	SNP	G	G	A	rs377309090		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:757476G>A	ENST00000215582.6	+	2	633	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	177					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGCCCACCTCGGTCCACGCCC	0.667																																						uc002lpo.2																			0				upper_aerodigestive_tract(1)	1						c.(529-531)CGG>CAG		hypothetical protein LOC126353							18.0	22.0	21.0					19																	757476		2192	4295	6487	SO:0001583	missense	126353							g.chr19:757476G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.530G>A	19.37:g.757476G>A	ENSP00000215582:p.Arg177Gln						p.R177Q	NM_173481	NP_775752	Q8IVT2	CS021_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)	2	613	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	177						Missense_Mutation	SNP	ENST00000215582.6	37	c.530G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262172	0.23051	.	.	ENSG00000099812	ENST00000215582	T	0.62788	0.0	3.87	-7.45	0.01374	.	4.722090	0.00913	N	0.002495	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19321	-1.0309	10	0.20519	T	0.43	-0.4719	2.2606	0.04066	0.1941:0.3753:0.2943:0.1362	.	177	Q8IVT2	CS021_HUMAN	Q	177	ENSP00000215582:R177Q	ENSP00000215582:R177Q	R	+	2	0	C19orf21	708476	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-2.133000	0.01308	-1.995000	0.00971	0.313000	0.20887	CGG		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
REXO1	57455	broad.mit.edu	37	19	1827011	1827011	+	Missense_Mutation	SNP	C	C	G	rs201699355	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:1827011C>G	ENST00000170168.4	-	2	1871	c.1777G>C	c.(1777-1779)Gcg>Ccg	p.A593P	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	593						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TCCGCCCCCGCGCTggaggtg	0.697																																						uc002lua.3																			0					0						c.(1777-1779)GCG>CCG		transcription elongation factor B polypeptide 3							8.0	6.0	6.0					19																	1827011		2146	4177	6323	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827011C>G	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1777G>C	19.37:g.1827011C>G	ENSP00000170168:p.Ala593Pro					REXO1_uc010dsr.1_Missense_Mutation_p.A547P	p.A593P	NM_020695	NP_065746	Q8N1G1	REXO1_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)	2	1872	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	593					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1777G>C	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571145	0.28003	.	.	ENSG00000079313	ENST00000170168	T	0.22336	1.96	3.4	-3.61	0.04556	.	0.374687	0.19118	U	0.122249	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.33339	0.162	T	0.34576	-0.9823	10	0.38643	T	0.18	-4.7851	3.216	0.06699	0.294:0.3539:0.0:0.352	.	593	Q8N1G1	REXO1_HUMAN	P	593	ENSP00000170168:A593P	ENSP00000170168:A593P	A	-	1	0	REXO1	1778011	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.220000	0.17660	-0.922000	0.03789	-0.693000	0.03709	GCG		0.697	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695	
FCER2	2208	broad.mit.edu	37	19	7763247	7763247	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:7763247C>T	ENST00000346664.5	-	4	397	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	FCER2_ENST00000597921.1_Missense_Mutation_p.R62Q|FCER2_ENST00000360067.4_Missense_Mutation_p.R61Q	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	62			R -> W (in dbSNP:rs2228137).		Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CATACCGTTCCGGGCAGCCCT	0.622																																						uc002mhn.2																			0					0						c.(184-186)CGG>CAG		Fc fragment of IgE, low affinity II, receptor							93.0	71.0	79.0					19																	7763247		2203	4300	6503	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7763247C>T	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.185G>A	19.37:g.7763247C>T	ENSP00000264072:p.Arg62Gln					FCER2_uc010xjs.1_5'UTR|FCER2_uc010xjt.1_5'UTR|FCER2_uc002mhm.2_Missense_Mutation_p.R62Q|FCER2_uc010dvo.2_Missense_Mutation_p.R62Q	p.R62Q	NM_002002	NP_001993	P06734	FCER2_HUMAN			4	369	-			62			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000346664.5	37	c.185G>A	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751447	0.15778	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.02498	4.28;4.27	4.24	-7.69	0.01263	.	1.265470	0.06051	N	0.656637	T	0.00845	0.0028	N	0.01048	-1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46119	-0.9214	10	0.02654	T	1	.	8.2167	0.31516	0.1073:0.2642:0.0:0.6285	.	61;62	P06734-2;P06734	.;FCER2_HUMAN	Q	62;61	ENSP00000264072:R62Q;ENSP00000353178:R61Q	ENSP00000264072:R62Q	R	-	2	0	FCER2	7669247	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.801000	0.00363	-1.848000	0.01172	-2.048000	0.00412	CGG		0.622	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002	
FBN3	84467	broad.mit.edu	37	19	8183822	8183822	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:8183822G>A	ENST00000600128.1	-	26	3710	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L	FBN3_ENST00000270509.2_Missense_Mutation_p.P1099L|FBN3_ENST00000601739.1_Missense_Mutation_p.P1099L			Q75N90	FBN3_HUMAN	fibrillin 3	1099	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGCCCAGGGGGACACTGGCA	0.592																																						uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3295-3297)CCC>CTC		fibrillin 3 precursor							160.0	117.0	131.0					19																	8183822		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8183822G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3296C>T	19.37:g.8183822G>A	ENSP00000470498:p.Pro1099Leu						p.P1099L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			25	3317	-			1099			EGF-like 14; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3296C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414692	0.62511	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	4.18	3.11	0.35812	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.93956	0.8065	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.92623	0.6109	10	0.39692	T	0.17	.	13.3784	0.60752	0.0:0.0:0.8411:0.1589	.	1099	Q75N90	FBN3_HUMAN	L	1099	ENSP00000270509:P1099L	ENSP00000270509:P1099L	P	-	2	0	FBN3	8089822	1.000000	0.71417	0.920000	0.36463	0.416000	0.31233	7.290000	0.78711	0.841000	0.35020	0.313000	0.20887	CCC		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MSH6	2956	broad.mit.edu	37	2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:48023188_48023190delGAA	ENST00000234420.5	+	3	765_767	c.613_615delGAA	c.(613-615)gaadel	p.E207del	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	207	Poly-Glu.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCAGAAGAGGAAGAAGAGATGG	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(613-615)GAAdel	MMR	mutS homolog 6																																				SO:0001651	inframe_deletion	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48023188_48023190delGAA	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.613_615delGAA	2.37:g.48023191_48023193delGAA	ENSP00000234420:p.Glu207del					MSH6_uc002rwc.2_In_Frame_Del_p.E207del|MSH6_uc010fbj.2_Intron|MSH6_uc010yoi.1_Intron|MSH6_uc010yoj.1_5'UTR	p.E207del	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	765_767	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	207			Poly-Glu.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	In_Frame_Del	DEL	ENST00000234420.5	37	c.613_615delGAA	CCDS1836.1																																																																																				0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
SCN3A	6328	broad.mit.edu	37	2	165952115	165952115	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:165952115A>G	ENST00000360093.3	-	25	4828	c.4337T>C	c.(4336-4338)tTa>tCa	p.L1446S	SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1397S|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1446S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1446					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACAAAGTATAAATACATGTA	0.269																																						uc002ucx.2																			0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4336-4338)TTA>TCA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						71.0	68.0	69.0					2																	165952115		2202	4298	6500	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952115A>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4337T>C	2.37:g.165952115A>G	ENSP00000353206:p.Leu1446Ser					SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.L1397S|SCN3A_uc002ucz.2_Missense_Mutation_p.L1397S	p.L1446S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			25	4829	-			1446			Helical; Name=S6 of repeat III; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4337T>C		.	.	.	.	.	.	.	.	.	.	A	22.2	4.254616	0.80135	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98835	-5.17;-5.17;-5.17	5.25	5.25	0.73442	.	0.103484	0.38381	N	0.001705	D	0.99093	0.9688	H	0.94964	3.605	0.45452	D	0.998428	P;P;P	0.49307	0.557;0.557;0.922	B;B;P	0.52386	0.234;0.234;0.697	D	0.99433	1.0936	10	0.87932	D	0	.	15.619	0.76790	1.0:0.0:0.0:0.0	.	1397;1397;1446	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	S	1446;1446;1397	ENSP00000353206:L1446S;ENSP00000283254:L1446S;ENSP00000386726:L1397S	ENSP00000283254:L1446S	L	-	2	0	SCN3A	165660361	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.087000	0.94110	2.333000	0.79357	0.482000	0.46254	TTA		0.269	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
METTL5	29081	broad.mit.edu	37	2	170677785	170677785	+	Splice_Site	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:170677785T>C	ENST00000260953.5	-	3	541		c.e3-2		METTL5_ENST00000409340.1_Intron|METTL5_ENST00000392640.2_Splice_Site|METTL5_ENST00000409837.1_Splice_Site|METTL5_ENST00000308099.3_Splice_Site|METTL5_ENST00000410097.1_Splice_Site|METTL5_ENST00000409965.1_Splice_Site	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ACACACAACCTATAAATACAA	0.303																																						uc002ufn.2																			0				central_nervous_system(1)	1						c.e3-1		methyltransferase like 5							73.0	73.0	73.0					2																	170677785		2203	4298	6501	SO:0001630	splice_region_variant	29081						methyltransferase activity|nucleic acid binding	g.chr2:170677785T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.225-2A>G	2.37:g.170677785T>C						METTL5_uc002ufo.2_Splice_Site_p.G75_splice|METTL5_uc002ufp.2_Splice_Site_p.G75_splice|METTL5_uc002ufq.1_Splice_Site_p.G75_splice	p.G75_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN			3	471	-								D3DPC9|Q9NVX1	Splice_Site	SNP	ENST00000260953.5	37	c.225_splice	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.825016	0.71143	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.078	0.72090	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	METTL5	170386031	1.000000	0.71417	0.851000	0.33527	0.974000	0.67602	7.806000	0.86020	2.014000	0.59158	0.533000	0.62120	.		0.303	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	Intron
CHRNG	1146	broad.mit.edu	37	2	233404776	233404776	+	Missense_Mutation	SNP	G	G	A	rs186589083	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:233404776G>A	ENST00000389494.3	+	2	151	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	CHRNG_ENST00000389492.3_Missense_Mutation_p.A44T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	44					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTGCGGCCCGCGGAACGAGA	0.632													G|||	4	0.000798722	0.0	0.0	5008	,	,		17737	0.004		0.0	False		,,,				2504	0.0					uc002vsx.1																			0					0						c.(130-132)GCG>ACG		cholinergic receptor, nicotinic, gamma							62.0	68.0	66.0					2																	233404776		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233404776G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.130G>A	2.37:g.233404776G>A	ENSP00000374145:p.Ala44Thr					CHRNG_uc010fyd.2_Missense_Mutation_p.A44T|CHRNG_uc010fye.1_Missense_Mutation_p.A44T	p.A44T	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	2	151	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	44			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.130G>A	CCDS33400.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	14.24	2.475403	0.43942	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.77489	-1.1;-1.1	4.01	4.01	0.46588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.152135	0.43579	D	0.000557	T	0.71710	0.3372	L	0.49640	1.575	0.42256	D	0.991997	B;B	0.24092	0.079;0.097	B;B	0.37144	0.034;0.242	T	0.76315	-0.3004	10	0.51188	T	0.08	.	16.2992	0.82801	0.0:0.0:1.0:0.0	.	44;44	Q14DU4;P07510	.;ACHG_HUMAN	T	44	ENSP00000374145:A44T;ENSP00000374143:A44T	ENSP00000374143:A44T	A	+	1	0	CHRNG	233113020	0.984000	0.35163	0.095000	0.20976	0.171000	0.22731	4.343000	0.59348	2.063000	0.61619	0.448000	0.29417	GCG		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199	
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						uc010ztl.1																			2	Substitution - Missense(2)		prostate(2)		0						c.(37-39)AAA>AAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.K13N							2	71	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.39A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
SALL4	57167	broad.mit.edu	37	20	50407510	50407510	+	Silent	SNP	G	G	A	rs138804604		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:50407510G>A	ENST00000217086.4	-	2	1623	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	504					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18873	0.0		0.0	False		,,,				2504	0.001					uc002xwh.3																			0				ovary(2)	2						c.(1510-1512)CCC>CCT		sal-like 4		G		2,4404	4.2+/-10.8	0,2,2201	97.0	105.0	102.0		1512	4.4	0.3	20	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL4	NM_020436.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		504/1054	50407510	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407510G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1512C>T	20.37:g.50407510G>A						SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.P504P	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1613	-			504					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1512C>T	CCDS13438.1																																																																																				0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
LAMA5	3911	broad.mit.edu	37	20	60928193	60928193	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:60928193C>G	ENST00000252999.3	-	3	631	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.A189P|LAMA5_ENST00000370692.3_Missense_Mutation_p.A189P|RP11-157P1.5_ENST00000487421.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GACTCACAGGCAAAGAACTGC	0.662																																						uc002ycq.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(565-567)GCC>CCC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						26.0	27.0	27.0					20																	60928193		2164	4255	6419	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60928193C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.565G>C	20.37:g.60928193C>G	ENSP00000252999:p.Ala189Pro						p.A189P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		3	632	-	Breast(26;1.57e-08)		189			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.565G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090162	0.94149	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.80123	-1.34;-1.34;-1.34	4.4	4.4	0.53042	Laminin, N-terminal (3);	0.123149	0.53938	U	0.000050	D	0.92221	0.7533	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94587	0.7784	10	0.87932	D	0	.	16.98	0.86324	0.0:1.0:0.0:0.0	.	189	O15230	LAMA5_HUMAN	P	189	ENSP00000252999:A189P;ENSP00000359726:A189P;ENSP00000359711:A189P	ENSP00000252999:A189P	A	-	1	0	LAMA5	60361588	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	5.687000	0.68219	2.019000	0.59389	0.462000	0.41574	GCC		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
KRTAP10-12	386685	broad.mit.edu	37	21	46117243	46117243	+	Missense_Mutation	SNP	G	G	A	rs199900483		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr21:46117243G>A	ENST00000400365.3	+	1	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	43	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677																																						uc002zfw.1																			0					0						c.(127-129)GCC>ACC		keratin associated protein 10-12		G	,THR/ALA	0,4172		0,0,2086	44.0	52.0	49.0		,127	0.5	0.7	21		49	2,8452		0,2,4225	no	intron,missense	TSPEAR,KRTAP10-12	NM_144991.2,NM_198699.1	,58	0,2,6311	AA,AG,GG		0.0237,0.0,0.0158	,probably-damaging	,43/246	46117243	2,12624	2086	4227	6313	SO:0001583	missense	386685					keratin filament		g.chr21:46117243G>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.127G>A	21.37:g.46117243G>A	ENSP00000383216:p.Ala43Thr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A43T	NM_198699	NP_941972	P60413	KR10C_HUMAN			1	157	+			43			2.|19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.127G>A	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	N	7.053	0.564762	0.13498	0.0	2.37E-4	ENSG00000189169	ENST00000400365	T	0.04654	3.58	3.61	0.506	0.16961	.	.	.	.	.	T	0.03305	0.0096	N	0.20986	0.625	0.22446	N	0.999096	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	9	0.39692	T	0.17	.	4.6012	0.12354	0.216:0.3464:0.4376:0.0	.	43	P60413	KR10C_HUMAN	T	43	ENSP00000383216:A43T	ENSP00000383216:A43T	A	+	1	0	KRTAP10-12	44941671	.	.	0.700000	0.30305	0.237000	0.25408	.	.	-0.159000	0.11021	-0.736000	0.03550	GCC		0.677	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699	
POTEH	23784	broad.mit.edu	37	22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						uc010gqp.2																			0				skin(1)	1						c.(115-117)GGC>GAC		ANKRD26-like family C, member 3							88.0	108.0	101.0					22																	16287770		1970	3758	5728	SO:0001583	missense	23784							g.chr22:16287770C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.116G>A	22.37:g.16287770C>T	ENSP00000340610:p.Gly39Asp					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.G39D	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	168	-			39					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.116G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313845	0.23908	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.57752	0.38	.	.	.	.	.	.	.	.	T	0.42131	0.1189	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.52823	0.71	T	0.32134	-0.9918	7	0.07644	T	0.81	.	.	.	.	.	39	Q6S545	POTEH_HUMAN	D	39	ENSP00000340610:G39D	ENSP00000340610:G39D	G	-	2	0	POTEH	14667770	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.904000	0.28491	0.073000	0.16731	0.074000	0.15403	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
LZTR1	8216	broad.mit.edu	37	22	21342326	21342326	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:21342326A>C	ENST00000215739.8	+	5	787	c.428A>C	c.(427-429)aAt>aCt	p.N143T	LZTR1_ENST00000389355.3_Missense_Mutation_p.N124T|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	143					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATTTATTCCAATTCTAACTTG	0.438																																						uc002zto.2																			0				ovary(2)|lung(2)	4						c.(427-429)AAT>ACT		leucine-zipper-like transcription regulator 1							82.0	83.0	83.0					22																	21342326		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21342326A>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.428A>C	22.37:g.21342326A>C	ENSP00000215739:p.Asn143Thr					LZTR1_uc002ztn.2_Missense_Mutation_p.N102T|LZTR1_uc011ahy.1_Missense_Mutation_p.N124T|LZTR1_uc010gsr.1_Missense_Mutation_p.N14T	p.N143T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		5	531	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	143			Kelch 2.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.428A>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742625	0.89573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67171	-0.24;-0.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.97110	0.999;1.0;0.997;0.991	T	0.82979	-0.0188	10	0.42905	T	0.14	-22.5753	13.5984	0.62004	1.0:0.0:0.0:0.0	.	124;102;143;102	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	T	102;143;124	ENSP00000215739:N143T;ENSP00000374006:N124T	ENSP00000215739:N143T	N	+	2	0	LZTR1	19672326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.102000	0.63906	0.459000	0.35465	AAT		0.438	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
C1QTNF6	114904	broad.mit.edu	37	22	37581479	37581479	+	Missense_Mutation	SNP	G	G	T	rs375717787		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:37581479G>T	ENST00000337843.2	-	2	143	c.68C>A	c.(67-69)gCc>gAc	p.A23D	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_5'Flank|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.A23D|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	4			P -> R (in dbSNP:rs229526). {ECO:0000269|PubMed:12975309}.		protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						ACCCAGGGCGGCTGTCCCCAT	0.602																																						uc003aqw.1																			0					0						c.(10-12)GCC>GAC		C1q and tumor necrosis factor related protein 6							32.0	33.0	33.0					22																	37581479		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37581479G>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.68C>A	22.37:g.37581479G>T	ENSP00000338812:p.Ala23Asp					C1QTNF6_uc003aqx.1_Missense_Mutation_p.A23D|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A23D|C1QTNF6_uc003aqz.1_RNA	p.A4D	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			1	516	-			4					Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.11C>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	6.797	0.516165	0.12944	.	.	ENSG00000133466	ENST00000397110;ENST00000337843	T;T	0.39787	1.06;1.06	4.49	3.1	0.35709	.	0.934197	0.08948	N	0.870492	T	0.44201	0.1282	M	0.63428	1.95	0.09310	N	1	P;P	0.47677	0.899;0.718	P;B	0.45681	0.49;0.296	T	0.35051	-0.9804	10	0.72032	D	0.01	.	5.3959	0.16268	0.2246:0.1584:0.617:0.0	.	23;4	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	D	23	ENSP00000380299:A23D;ENSP00000338812:A23D	ENSP00000338812:A23D	A	-	2	0	C1QTNF6	35911425	0.000000	0.05858	0.003000	0.11579	0.429000	0.31625	-0.222000	0.09190	0.716000	0.32124	0.491000	0.48974	GCC		0.602	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486	
UGT2A1	10941	broad.mit.edu	37	4	70455172	70455172	+	Missense_Mutation	SNP	G	G	A	rs184187801	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:70455172G>A	ENST00000503640.1	-	6	1557	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M	UGT2A1_ENST00000512704.1_Missense_Mutation_p.T457M|UGT2A2_ENST00000457664.2_Missense_Mutation_p.T510M|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000286604.4_Missense_Mutation_p.T501M|UGT2A1_ENST00000514019.1_Missense_Mutation_p.T667M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	501					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAATATAGCCGTTGTCACACA	0.413													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17398	0.002		0.0	False		,,,				2504	0.0					uc003hem.3																			0				ovary(1)	1						c.(1501-1503)ACG>ATG		UDP glucuronosyltransferase 2 family,		G	MET/THR,MET/THR	0,4406		0,0,2203	103.0	101.0	102.0		1529,1502	2.3	0.0	4		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	510/537,501/528	70455172	1,13005	2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70455172G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1502C>T	4.37:g.70455172G>A	ENSP00000424478:p.Thr501Met					UGT2A1_uc011caq.1_Missense_Mutation_p.T667M|UGT2A1_uc010ihu.2_Missense_Mutation_p.T501M|UGT2A1_uc010iht.2_Missense_Mutation_p.T457M|UGT2A1_uc010ihs.2_Missense_Mutation_p.T502M	p.T501M	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			6	1565	-			501			Helical; (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1502C>T	CCDS3529.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.472	-0.321615	0.05386	0.0	1.16E-4	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.08	2.32	0.28847	.	0.827519	0.11205	N	0.588302	T	0.66066	0.2752	M	0.67397	2.05	.	.	.	D;P;D;P;D	0.71674	0.998;0.689;0.983;0.939;0.993	P;B;P;P;P	0.57283	0.807;0.254;0.817;0.534;0.817	T	0.68439	-0.5408	9	0.72032	D	0.01	.	6.9021	0.24288	0.1669:0.1451:0.688:0.0	.	667;667;457;510;501	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	M	510;501;457;667;501	ENSP00000387888:T510M;ENSP00000424478:T501M;ENSP00000421432:T457M;ENSP00000425497:T667M;ENSP00000286604:T501M	ENSP00000286604:T501M	T	-	2	0	UGT2A1	70489761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.543000	0.23237	0.601000	0.29879	-0.317000	0.08691	ACG		0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					uc003hrx.2																			0				skin(1)	1						c.(418-423)GAGGAA>GAA		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	p.140_141EE>E	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	538_540	-			140_141			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757	
FGA	2243	broad.mit.edu	37	4	155507683	155507683	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:155507683A>T	ENST00000302053.3	-	5	976	c.898T>A	c.(898-900)Tct>Act	p.S300T	FGA_ENST00000403106.3_Missense_Mutation_p.S300T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	300					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCCAGAGCTCCCAGAG	0.562																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				ovary(2)|breast(1)	3						c.(898-900)TCT>ACT		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						94.0	103.0	100.0					4																	155507683		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507683A>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.898T>A	4.37:g.155507683A>T	ENSP00000306361:p.Ser300Thr					FGA_uc003ioe.1_Missense_Mutation_p.S300T|FGA_uc003iof.1_Intron	p.S300T	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	956	-	all_hematologic(180;0.215)	Renal(120;0.0458)	300			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.898T>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	2.855	-0.237461	0.05944	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.80994	-1.44;-1.44	4.08	-1.59	0.08453	.	16.970000	0.00166	N	0.000000	T	0.65144	0.2663	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.47586	-0.9106	10	0.10902	T	0.67	.	3.2959	0.06966	0.5313:0.0:0.1799:0.2887	.	300;300	P02671-2;P02671	.;FIBA_HUMAN	T	300	ENSP00000306361:S300T;ENSP00000385981:S300T	ENSP00000306361:S300T	S	-	1	0	FGA	155727133	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-0.546000	0.06062	-0.123000	0.11745	-0.500000	0.04577	TCT		0.562	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
STOX2	56977	broad.mit.edu	37	4	184938294	184938294	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:184938294C>T	ENST00000308497.4	+	4	4073	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	880					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGTAACCGTCGTCAGAACCC	0.502																																						uc003ivz.1																			0					0						c.(2638-2640)CGT>TGT		storkhead box 2							40.0	42.0	41.0					4																	184938294		1869	4098	5967	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184938294C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2638C>T	4.37:g.184938294C>T	ENSP00000311257:p.Arg880Cys					uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	p.R880C	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	4	4073	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	880					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.2638C>T	CCDS47167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462294|4.462294	0.84425|0.84425	.|.	.|.	ENSG00000173320|ENSG00000173320	ENST00000308497|ENST00000513034	D|.	0.82255|.	-1.59|.	5.73|5.73	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.52472|0.52472	-0.8571|-0.8571	10|5	0.87932|.	D|.	0|.	-14.6333|-14.6333	15.5361|15.5361	0.76004|0.76004	0.1395:0.8605:0.0:0.0|0.1395:0.8605:0.0:0.0	.|.	880|.	Q9P2F5|.	STOX2_HUMAN|.	C|L	880|69	ENSP00000311257:R880C|.	ENSP00000311257:R880C|.	R|S	+|+	1|2	0|0	STOX2|STOX2	185175288|185175288	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.942000|0.942000	0.58702|0.58702	3.087000|3.087000	0.50167|0.50167	1.381000|1.381000	0.46364|0.46364	0.557000|0.557000	0.71058|0.71058	CGT|TCG		0.502	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225	
DNAH5	1767	broad.mit.edu	37	5	13885213	13885213	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:13885213G>A	ENST00000265104.4	-	19	2972	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	956	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R956R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGTAACTCGCGGGCTTCTT	0.443									Kartagener syndrome																													uc003jfd.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2866-2868)CGC>CGT		dynein, axonemal, heavy chain 5							126.0	120.0	122.0					5																	13885213		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13885213G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2868C>T	5.37:g.13885213G>A							p.R956R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			19	2910	-	Lung NSC(4;0.00476)		956			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2868C>T	CCDS3882.1																																																																																				0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PIK3R1	5295	broad.mit.edu	37	5	67522740	67522741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:67522740_67522741insA	ENST00000521381.1	+	2	853_854	c.237_238insA	c.(238-240)aaafs	p.K80fs	PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.K80fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.K80fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.K80fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	80					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATATTGGAAGGAAAAAAATCTC	0.49			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		1	Whole gene deletion(1)		large_intestine(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(235-240)AGGAAAfs		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67522740_67522741insA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.244dupA	5.37:g.67522747_67522747dupA	ENSP00000428056:p.Lys80fs	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Frame_Shift_Ins_p.R79fs	p.R79fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	2	797_798	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	79_80					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.237_238insA	CCDS3993.1																																																																																				0.490	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
GPR98	84059	broad.mit.edu	37	5	89992775	89992775	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:89992775T>C	ENST00000405460.2	+	34	8063	c.7967T>C	c.(7966-7968)aTt>aCt	p.I2656T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2656	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGACAGTCATTTTAACCATC	0.368																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7966-7968)ATT>ACT		G protein-coupled receptor 98 precursor							106.0	95.0	98.0					5																	89992775		1846	4084	5930	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89992775T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7967T>C	5.37:g.89992775T>C	ENSP00000384582:p.Ile2656Thr					GPR98_uc003kjt.2_Missense_Mutation_p.I362T|GPR98_uc003kjv.2_Missense_Mutation_p.I256T	p.I2656T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	34	8063	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2656			Calx-beta 18.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7967T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.506|0.506	-0.868765|-0.868765	0.02570|0.02570	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27557	.|1.66	5.92|5.92	0.982|0.982	0.19762|0.19762	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.640972	.|0.17629	.|N	.|0.167446	T|T	0.07234|0.07234	0.0183|0.0183	N|N	0.00471|0.00471	-1.455|-1.455	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.11329	.|0.006;0.006	T|T	0.39860|0.39860	-0.9593|-0.9593	5|10	.|0.07030	.|T	.|0.85	.|.	9.4556|9.4556	0.38753|0.38753	0.0:0.4332:0.0:0.5668|0.0:0.4332:0.0:0.5668	.|.	.|2656;2656	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|T	222|2656	.|ENSP00000384582:I2656T	.|ENSP00000296619:I2656T	F|I	+|+	1|2	0|0	GPR98|GPR98	90028531|90028531	0.004000|0.004000	0.15560|0.15560	0.157000|0.157000	0.22605|0.22605	0.958000|0.958000	0.62258|0.62258	1.851000|1.851000	0.39338|0.39338	0.478000|0.478000	0.27488|0.27488	0.459000|0.459000	0.35465|0.35465	TTT|ATT		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ARAP3	64411	broad.mit.edu	37	5	141049346	141049346	+	Missense_Mutation	SNP	C	C	T	rs377450993		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:141049346C>T	ENST00000239440.4	-	16	2347	c.2282G>A	c.(2281-2283)gGg>gAg	p.G761E	ARAP3_ENST00000508305.1_Missense_Mutation_p.G663E|ARAP3_ENST00000513878.1_Missense_Mutation_p.G423E	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	761					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATCCTCCCCCCAGCGAGGAT	0.587																																						uc003llm.2																			0				breast(5)|ovary(1)|large_intestine(1)	7						c.(2281-2283)GGG>GAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							92.0	82.0	85.0					5																	141049346		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049346C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2282G>A	5.37:g.141049346C>T	ENSP00000239440:p.Gly761Glu					ARAP3_uc011dbe.1_Missense_Mutation_p.G423E|ARAP3_uc003lln.2_Missense_Mutation_p.G663E	p.G761E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			16	2360	-			761					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2282G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270200	0.59540	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11930	2.73;2.73;2.73	5.22	4.35	0.52113	Pleckstrin homology domain (1);	0.208531	0.42053	D	0.000770	T	0.28566	0.0707	L	0.61218	1.895	0.36314	D	0.857808	P;D;D	0.60575	0.609;0.988;0.979	B;P;P	0.58721	0.254;0.844;0.63	T	0.26538	-1.0100	10	0.46703	T	0.11	.	12.9998	0.58667	0.0:0.8377:0.1622:0.0	.	423;663;761	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	E	663;761;423	ENSP00000421826:G663E;ENSP00000239440:G761E;ENSP00000421468:G423E	ENSP00000239440:G761E	G	-	2	0	ARAP3	141029530	0.951000	0.32395	0.996000	0.52242	0.968000	0.65278	3.821000	0.55700	1.198000	0.43158	-0.266000	0.10368	GGG		0.587	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
FAT2	2196	broad.mit.edu	37	5	150920247	150920247	+	Missense_Mutation	SNP	G	G	A	rs201177490		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:150920247G>A	ENST00000261800.5	-	10	8932	c.8920C>T	c.(8920-8922)Cgc>Tgc	p.R2974C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2974	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGCTCGCGGTCCAGGGTC	0.527																																						uc003lue.3																			0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(8920-8922)CGC>TGC		FAT tumor suppressor 2 precursor							106.0	88.0	94.0					5																	150920247		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920247G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8920C>T	5.37:g.150920247G>A	ENSP00000261800:p.Arg2974Cys					GM2A_uc011dcs.1_Intron	p.R2974C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	8933	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2974			Extracellular (Potential).|Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8920C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845847	0.71603	.	.	ENSG00000086570	ENST00000261800	T	0.01745	4.66	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000033	T	0.16342	0.0393	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01541	-1.1329	10	0.46703	T	0.11	.	13.0097	0.58724	0.0:0.0:0.7286:0.2714	.	2974	Q9NYQ8	FAT2_HUMAN	C	2974	ENSP00000261800:R2974C	ENSP00000261800:R2974C	R	-	1	0	FAT2	150900440	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	2.953000	0.49105	2.471000	0.83476	0.563000	0.77884	CGC		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
KHDC3L	154288	broad.mit.edu	37	6	74073351	74073351	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:74073351G>A	ENST00000370367.3	+	3	475	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	141							RNA binding (GO:0003723)										ATAGAAGTCCGGGAGGCCGGG	0.657																																						uc003pgt.3																			0				skin(2)	2						c.(421-423)CGG>CAG		hypothetical protein LOC154288							30.0	36.0	34.0					6																	74073351		2202	4300	6502	SO:0001583	missense	154288							g.chr6:74073351G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.422G>A	6.37:g.74073351G>A	ENSP00000359392:p.Arg141Gln						p.R141Q	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			3	475	+			141					B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.422G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300647	0.40694	.	.	ENSG00000203908	ENST00000370367	T	0.51817	0.69	2.91	-4.6	0.03390	.	1.126930	0.06886	N	0.803352	T	0.11537	0.0281	L	0.52573	1.65	0.09310	N	1	P	0.48350	0.909	B	0.33454	0.164	T	0.08472	-1.0720	10	0.45353	T	0.12	-2.7233	0.8683	0.01208	0.3157:0.2931:0.2427:0.1485	.	141	Q587J8	ECAT1_HUMAN	Q	141	ENSP00000359392:R141Q	ENSP00000359392:R141Q	R	+	2	0	C6orf221	74130072	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.631000	0.05496	-1.220000	0.02594	-0.136000	0.14681	CGG		0.657	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
FYN	2534	broad.mit.edu	37	6	112015863	112015863	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:112015863T>C	ENST00000354650.3	-	11	1693	c.1087A>G	c.(1087-1089)Aaa>Gaa	p.K363E	FYN_ENST00000229471.4_Missense_Mutation_p.K308E|FYN_ENST00000538466.1_Missense_Mutation_p.K360E|FYN_ENST00000368667.2_Missense_Mutation_p.K363E|FYN_ENST00000229470.5_Missense_Mutation_p.K311E|FYN_ENST00000368678.4_Missense_Mutation_p.K360E|FYN_ENST00000356013.2_Missense_Mutation_p.K308E|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000368682.3_Missense_Mutation_p.K360E	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTTGGTAATTTCAGAGCTCTT	0.383																																						uc003pvj.2																			0				lung(5)|central_nervous_system(1)|skin(1)	7						c.(1087-1089)AAA>GAA		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						173.0	163.0	166.0					6																	112015863		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112015863T>C	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1087A>G	6.37:g.112015863T>C	ENSP00000346671:p.Lys363Glu					FYN_uc003pvi.2_Missense_Mutation_p.K308E|FYN_uc003pvk.2_Missense_Mutation_p.K363E|FYN_uc003pvh.2_Missense_Mutation_p.K360E|FYN_uc010kdy.1_Missense_Mutation_p.K54E	p.K363E	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	10	1427	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	363			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1087A>G	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968639	0.74131	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.02807	0.0084	N	0.02225	-0.63	0.80722	D	1	P;B;B;P	0.38195	0.622;0.022;0.106;0.622	B;B;B;B	0.39419	0.299;0.042;0.059;0.299	T	0.50457	-0.8826	10	0.54805	T	0.06	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	311;363;308;360	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	E	360;363;308;363;360;311;308;360;311	ENSP00000357671:K360E;ENSP00000346671:K363E;ENSP00000229471:K308E;ENSP00000357656:K363E;ENSP00000357667:K360E;ENSP00000229470:K311E;ENSP00000348295:K308E;ENSP00000440646:K360E	ENSP00000229470:K311E	K	-	1	0	FYN	112122556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAA		0.383	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						uc010khw.1																			0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(16-21)TTGTTTfs		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6_7					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
CNKSR3	154043	broad.mit.edu	37	6	154831213	154831213	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:154831213C>T	ENST00000607772.1	-	1	580	c.36G>A	c.(34-36)gtG>gtA	p.V12V		NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	12	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCAGTCCACCACTTGTTTGG	0.652																																						uc003qpy.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(34-36)GTG>GTA		CNKSR family member 3							155.0	132.0	140.0					6																	154831213		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154831213C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.36G>A	6.37:g.154831213C>T							p.V12V	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	1	541	-		Ovarian(120;0.196)	12			SAM.		Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.36G>A	CCDS5246.1																																																																																				0.652	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	
SUMF2	25870	broad.mit.edu	37	7	56144570	56144570	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:56144570C>T	ENST00000413756.1	+	6	602	c.579C>T	c.(577-579)acC>acT	p.T193T	SUMF2_ENST00000275607.9_Silent_p.T105T|SUMF2_ENST00000342190.6_Silent_p.T212T|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Silent_p.T197T|SUMF2_ENST00000434526.2_Silent_p.T212T			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	193					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAACCGCACCAACCTGTGGC	0.567																																						uc003trv.2																			0				ovary(1)|skin(1)	2						c.(634-636)ACC>ACT		sulfatase modifying factor 2 isoform e							101.0	91.0	94.0					7																	56144570		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56144570C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.579C>T	7.37:g.56144570C>T						PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.T212T|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Silent_p.T105T|SUMF2_uc011kcy.1_Silent_p.T197T|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_5'UTR|SUMF2_uc003trx.2_RNA	p.T212T	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	667	+	Breast(14;0.214)		193					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.636C>T																																																																																					0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411	
CACNA2D1	781	broad.mit.edu	37	7	81611940	81611940	+	Missense_Mutation	SNP	G	G	A	rs149510838		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:81611940G>A	ENST00000356253.5	-	24	2189	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S633L			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	645					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGGGTTTCCGAATCTGCAAA	0.333																																						uc003uhr.1																			0				ovary(5)|pancreas(1)	6						c.(1897-1899)TCG>TTG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	G	LEU/SER	0,4406		0,0,2203	89.0	95.0	93.0		1898	5.8	1.0	7	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNA2D1	NM_000722.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	633/1092	81611940	1,13005	2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81611940G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1934C>T	7.37:g.81611940G>A	ENSP00000348589:p.Ser645Leu						p.S633L	NM_000722	NP_000713	P54289	CA2D1_HUMAN			24	2154	-			645			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1898C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.593|9.593	1.126559|1.126559	0.20959|0.20959	0.0|0.0	1.16E-4|1.16E-4	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|D;T	.|0.81739	.|-1.53;-1.02	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.312791	.|0.36409	.|N	.|0.002606	T|T	0.78227|0.78227	0.4250|0.4250	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.16396	.|0.017	.|B	.|0.20767	.|0.031	T|T	0.70857|0.70857	-0.4758|-0.4758	5|10	.|0.34782	.|T	.|0.22	-15.1723|-15.1723	20.1306|20.1306	0.97998|0.97998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|633	.|P54289-2	.|.	W|L	144|633;652;645	.|ENSP00000349320:S633L;ENSP00000348589:S645L	.|ENSP00000284088:S652L	R|S	-|-	1|2	2|0	CACNA2D1|CACNA2D1	81449876|81449876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	4.394000|4.394000	0.59671|0.59671	2.751000|2.751000	0.94390|0.94390	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
UBR5	51366	broad.mit.edu	37	8	103340098	103340099	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:103340098_103340099insA	ENST00000520539.1	-	12	1958_1959	c.1352_1353insT	c.(1351-1353)ttafs	p.L451fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.L445fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.L451fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	451					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACAGAACTTAAAGTTTCATC	0.376																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1351-1353)TTAfs		ubiquitin protein ligase E3 component n-recognin																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103340098_103340099insA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1353dupT	8.37:g.103340101_103340101dupA	ENSP00000429084:p.Leu451fs					UBR5_uc003yks.1_Frame_Shift_Ins_p.L451fs	p.L451fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		12	1385_1386	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		451					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.1352_1353insT	CCDS34933.1																																																																																				0.376	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
CTHRC1	115908	broad.mit.edu	37	8	104388028	104388028	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:104388028C>T	ENST00000330295.5	+	2	355	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CTHRC1_ENST00000520337.1_Silent_p.A57A|CTHRC1_ENST00000415886.2_Silent_p.A71A|CTHRC1_ENST00000520880.1_5'Flank	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	71	Collagen-like.				cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.A71A(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GCCCTGGGGCCAATGGCATTC	0.522																																						uc003ylk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(211-213)GCC>GCT		collagen triple helix repeat containing 1							104.0	116.0	112.0					8																	104388028		2203	4300	6503	SO:0001819	synonymous_variant	115908					collagen		g.chr8:104388028C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.213C>T	8.37:g.104388028C>T						CTHRC1_uc011lhq.1_Silent_p.A71A	p.A71A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	312	+			71			Collagen-like.		G3V141|Q6UW91|Q8IX63	Silent	SNP	ENST00000330295.5	37	c.213C>T	CCDS6299.1																																																																																				0.522	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
EPPK1	83481	broad.mit.edu	37	8	144940918	144940918	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:144940918G>T	ENST00000525985.1	-	2	6575	c.6504C>A	c.(6502-6504)agC>agA	p.S2168R				P58107	EPIPL_HUMAN	epiplakin 1	2168						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTTTGTTGCTGGTTTCCT	0.507																																						uc003zaa.1																			0				pancreas(1)|skin(1)	2						c.(6502-6504)AGC>AGA		epiplakin 1							254.0	259.0	257.0					8																	144940918		2069	4204	6273	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940918G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6504C>A	8.37:g.144940918G>T	ENSP00000436337:p.Ser2168Arg						p.S2168R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6517	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2168					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6504C>A		.	.	.	.	.	.	.	.	.	.	G	7.857	0.725207	0.15439	.	.	ENSG00000227184	ENST00000525985	T	0.66460	-0.21	4.55	-0.907	0.10521	.	.	.	.	.	T	0.30262	0.0759	N	0.01297	-0.9	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27297	-1.0078	9	0.11485	T	0.65	.	6.8307	0.23909	0.0:0.2963:0.2247:0.479	.	2168	E9PPU0	.	R	2168	ENSP00000436337:S2168R	ENSP00000436337:S2168R	S	-	3	2	EPPK1	145012906	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.242000	0.08928	-0.015000	0.14150	-0.283000	0.09986	AGC		0.507	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
