#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR8J3	81168	broad.mit.edu	37	11	55904472	55904472	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	ENST00000301529.1	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(721-723)tgC>tgT		olfactory receptor, family 8, subfamily J, member 3							115.0	107.0	110.0					11																	55904472		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904472G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.723C>T	11.37:g.55904472G>A							p.C241C	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	722	-	Esophageal squamous(21;0.00693)		241					Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.723C>T	CCDS31520.1																																																																																				0.388	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		25	39	0	0	0	1	0	25	39				
UGT2B7	7364	broad.mit.edu	37	4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	ENST00000508661.1	+	4	1064	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000305231.7_Missense_Mutation_p.T346N			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	346					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAACCAGATACCTTAGGTCTC	0.358																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1036-1038)aCc>aAc		UDP glucuronosyltransferase 2 family, polypeptide B7							148.0	146.0	147.0					4																	69972927		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69972927C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.1037C>A	4.37:g.69972927C>A	ENSP00000427659:p.Thr346Asn					UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.T346N	p.T346N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			4	1083	+			346					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.1037C>A		.	.	.	.	.	.	.	.	.	.	C	3.814	-0.039216	0.07497	.	.	ENSG00000171234	ENST00000502942;ENST00000305231;ENST00000508661	T;T;T	0.59772	0.24;0.24;0.24	2.93	1.05	0.20165	.	0.150970	0.43579	U	0.000544	T	0.45115	0.1326	L	0.38692	1.165	0.09310	N	1	B;B	0.15719	0.014;0.006	B;B	0.30782	0.12;0.042	T	0.35151	-0.9800	9	.	.	.	.	9.1648	0.37046	0.3854:0.6146:0.0:0.0	.	346;346	E9PBP8;P16662	.;UD2B7_HUMAN	N	97;346;346	ENSP00000426206:T97N;ENSP00000304811:T346N;ENSP00000427659:T346N	.	T	+	2	0	UGT2B7	70007516	0.000000	0.05858	0.123000	0.21794	0.074000	0.17049	0.397000	0.20883	0.070000	0.16634	0.585000	0.79938	ACC		0.358	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		29	91	1	0	9.80977e-26	1	1.02363e-25	29	91				
MYH7B	57644	broad.mit.edu	37	20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	ENST00000262873.7	+	6	714	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	166	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(622-624)Cgc>Tgc		myosin, heavy chain 7B, cardiac muscle, beta							46.0	52.0	50.0					20																	33568534		2071	4196	6267	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33568534C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.622C>T	20.37:g.33568534C>T	ENSP00000262873:p.Arg208Cys					MYH7B_ENST00000481922.1_3'UTR	p.R208C	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		6	714	+			166			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.622C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901490	0.92035	.	.	ENSG00000078814	ENST00000262873	D	0.88277	-2.36	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.000000	0.38164	N	0.001796	D	0.95284	0.8470	H	0.96518	3.835	0.58432	D	0.999999	D	0.71674	0.998	P	0.54965	0.765	D	0.96907	0.9664	10	0.72032	D	0.01	.	17.6559	0.88177	0.0:1.0:0.0:0.0	.	166	A7E2Y1	MYH7B_HUMAN	C	208	ENSP00000262873:R208C	ENSP00000262873:R208C	R	+	1	0	MYH7B	33032195	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.755000	0.55197	2.472000	0.83506	0.655000	0.94253	CGC		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		41	86	0	0	0	1	0	41	86				
TMEM91	641649	broad.mit.edu	37	19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000436170.2_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	131					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706																																						ENST00000392002.2																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(391-393)cAg>cGg		transmembrane protein 91							28.0	33.0	31.0					19																	41889651		2042	4165	6207	SO:0001583	missense	641649							g.chr19:41889651A>G	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.392A>G	19.37:g.41889651A>G	ENSP00000375859:p.Gln131Arg					TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron	p.Q131R	NM_001098821.1	NP_001092291.1					4	1052	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.392A>G	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123346	0.37436	.	.	ENSG00000142046	ENST00000392002	D	0.85702	-2.02	3.67	1.59	0.23543	.	.	.	.	.	T	0.72112	0.3420	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.56739	-0.7929	9	0.13108	T	0.6	.	4.1908	0.10419	0.6096:0.1806:0.2098:0.0	.	131	Q6ZNR0	TMM91_HUMAN	R	131	ENSP00000375859:Q131R	ENSP00000375859:Q131R	Q	+	2	0	TMEM91	46581491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.544000	0.45761	0.615000	0.30124	0.459000	0.35465	CAG		0.706	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			5	64	0	0	0	1	0	5	64				
SETBP1	26040	broad.mit.edu	37	18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A	rs559186877		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	ENST00000282030.5	+	4	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	908			D -> N (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATTCCGTCCGACACCAGCAC	0.532									Schinzel-Giedion syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18813	0.0		0.0	False		,,,				2504	0.001					ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2722-2724)Gac>Aac		SET binding protein 1							40.0	35.0	37.0					18																	42532027		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532027G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2722G>A	18.37:g.42532027G>A	ENSP00000282030:p.Asp908Asn						p.D908N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3018	+			908					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2722G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105677	0.77096	.	.	ENSG00000152217	ENST00000282030	D	0.89875	-2.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	N	0.14661	0.345	0.50813	D	0.999891	D	0.89917	1.0	D	0.68621	0.959	D	0.90107	0.4189	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	908	Q9Y6X0	SETBP_HUMAN	N	908	ENSP00000282030:D908N	ENSP00000282030:D908N	D	+	1	0	SETBP1	40786025	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.400000	0.97290	2.941000	0.99782	0.655000	0.94253	GAC		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		17	33	0	0	0	1	0	17	33				
CTNNA3	29119	broad.mit.edu	37	10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	ENST00000433211.2	-	13	1971	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCAACACATTCAATGAGC	0.338																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1795-1797)aaT>aaG		catenin (cadherin-associated protein), alpha 3							148.0	141.0	143.0					10																	68040315		2203	4299	6502	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040315A>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1797T>G	10.37:g.68040315A>C	ENSP00000389714:p.Asn599Lys					CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	p.N599K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			13	1971	-			599						Missense_Mutation	SNP	ENST00000433211.2	37	c.1797T>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	A	7.525	0.657444	0.14645	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.28069	1.63;1.63	5.54	1.4	0.22301	.	0.499372	0.18335	N	0.144371	T	0.04452	0.0122	N	0.00077	-2.24	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.18335	-1.0340	10	0.08179	T	0.78	-5.3396	3.8862	0.09099	0.643:0.0:0.1951:0.1619	.	599	Q9UI47	CTNA3_HUMAN	K	599	ENSP00000389714:N599K;ENSP00000362849:N599K	ENSP00000362849:N599K	N	-	3	2	CTNNA3	67710321	0.457000	0.25752	0.997000	0.53966	0.944000	0.59088	0.223000	0.17719	0.367000	0.24454	0.533000	0.62120	AAT		0.338	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		24	21	0	0	0	1	0	24	21				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	62	0	0	0	1	0	4	62				
CSMD2	114784	broad.mit.edu	37	1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	ENST00000338325.1	-	5	695	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	CSMD2_ENST00000373381.4_Missense_Mutation_p.A487T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	447	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCAAAGGCGAGCTTGATC	0.532																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1459-1461)Gcc>Acc		CUB and Sushi multiple domains 2							129.0	109.0	116.0					1																	34258115		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34258115C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.283G>A	1.37:g.34258115C>T	ENSP00000340311:p.Ala95Thr					CSMD2_ENST00000338325.1_Missense_Mutation_p.A95T	p.A487T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			11	1635	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	447			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1459G>A		.	.	.	.	.	.	.	.	.	.	C	13.25	2.182574	0.38511	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.17370	2.28;2.28	5.06	4.03	0.46877	CUB (5);	0.057550	0.64402	D	0.000002	T	0.04048	0.0113	N	0.00823	-1.155	0.80722	D	1	B;B	0.18166	0.026;0.007	B;B	0.23150	0.044;0.01	T	0.37572	-0.9700	10	0.11182	T	0.66	.	4.5584	0.12149	0.0:0.7256:0.0:0.2744	.	447;487	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	487;95	ENSP00000362479:A487T;ENSP00000340311:A95T	ENSP00000241312:A447T	A	-	1	0	CSMD2	34030702	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	5.872000	0.69636	2.368000	0.80403	0.467000	0.42956	GCC		0.532	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		5	71	0	0	0	1	0	5	71				
MYEOV2	150678	broad.mit.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	ENST00000607357.1	-	2	133	c.115G>A	c.(115-117)Gtt>Att	p.V39I	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.V70I	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483																																						ENST00000307266.3																			1	Substitution - Missense(1)	p.V70F(1)	lung(1)	breast(1)|lung(5)|pancreas(1)	7						c.(208-210)Gtt>Att		myeloma overexpressed 2							127.0	130.0	129.0					2																	241073371		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073371C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.115G>A	2.37:g.241073371C>T	ENSP00000475979:p.Val39Ile					MYEOV2_ENST00000607357.1_Missense_Mutation_p.V39I|MYEOV2_ENST00000489698.1_5'UTR	p.V70I	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	207	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	39					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.208G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.157287	0.78114	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	3.67	0.42095	.	0.000000	0.64402	U	0.000001	T	0.70491	0.3230	.	.	.	0.58432	D	0.999997	B;D	0.67145	0.013;0.996	B;P	0.61874	0.008;0.895	T	0.73142	-0.4076	8	0.72032	D	0.01	-4.0557	10.5952	0.45333	0.0:0.9036:0.0:0.0963	.	39;70	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	I	70;60	.	ENSP00000304147:V70I	V	-	1	0	MYEOV2	240722044	1.000000	0.71417	0.472000	0.27241	0.971000	0.66376	6.092000	0.71414	1.042000	0.40150	0.650000	0.86243	GTT		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		33	84	0	0	0	1	0	33	84				
TIAM2	26230	broad.mit.edu	37	6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	ENST00000461783.3	+	29	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACGAAAAGCCAACAGCACC	0.567																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4915-4917)gCc>gGc		T-cell lymphoma invasion and metastasis 2							65.0	62.0	63.0					6																	155578065		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155578065C>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4916C>G	6.37:g.155578065C>G	ENSP00000437188:p.Ala1639Gly					TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G	p.A1639G			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6189	+		Ovarian(120;0.196)	1639	A -> T (in Ref. 7; BAC86170).				B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4916C>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918198	0.52546	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08896	3.52;3.44;3.52;3.33;3.5;3.44;3.33;3.33;3.04	5.75	5.75	0.90469	.	0.226348	0.45126	D	0.000400	T	0.04272	0.0118	L	0.59436	1.845	0.28743	N	0.901843	P;P;P;P	0.43352	0.704;0.804;0.804;0.704	B;B;B;B	0.39152	0.081;0.292;0.292;0.152	T	0.35025	-0.9805	10	0.26408	T	0.33	.	11.837	0.52330	0.0:0.9135:0.0:0.0865	.	983;1668;1663;1639	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	G	1639;1885;1668;1639;1015;1663;1668;951;983;564	ENSP00000437188:A1639G;ENSP00000407746:A1668G;ENSP00000327315:A1639G;ENSP00000356142:A1015G;ENSP00000353528:A1663G;ENSP00000433348:A1668G;ENSP00000407183:A951G;ENSP00000435335:A983G;ENSP00000275246:A564G	ENSP00000275246:A564G	A	+	2	0	TIAM2	155619757	0.904000	0.30761	0.949000	0.38748	0.981000	0.71138	1.760000	0.38430	2.704000	0.92352	0.655000	0.94253	GCC		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		23	31	0	0	0	1	0	23	31				
MFI2	4241	broad.mit.edu	37	3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	ENST00000296350.5	-	15	2209	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	699	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(2095-2097)gCg>gTg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5		G	VAL/ALA	0,4406		0,0,2203	117.0	131.0	126.0		2096	1.6	0.1	3	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	MFI2	NM_005929.5	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	699/739	196730813	1,13005	2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196730813G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.2096C>T	3.37:g.196730813G>A	ENSP00000296350:p.Ala699Val					MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	p.A699V	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	15	2209	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		699			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.2096C>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358060	0.41801	0.0	1.16E-4	ENSG00000163975	ENST00000296350	T	0.33438	1.41	5.62	1.58	0.23477	.	0.290400	0.37178	N	0.002208	T	0.16896	0.0406	L	0.34521	1.04	0.49798	D	0.999825	B	0.15930	0.015	B	0.12156	0.007	T	0.11817	-1.0572	10	0.30078	T	0.28	-2.8768	1.4522	0.02377	0.1673:0.1429:0.3967:0.2931	.	699	P08582	TRFM_HUMAN	V	699	ENSP00000296350:A699V	ENSP00000296350:A699V	A	-	2	0	MFI2	198215210	0.209000	0.23505	0.078000	0.20375	0.949000	0.60115	0.561000	0.23515	-0.001000	0.14495	0.561000	0.74099	GCG		0.647	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			94	178	0	0	0	1	0	94	178				
TRMT44	152992	broad.mit.edu	37	4	8470099	8470099	+	Intron	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:8470099G>A	ENST00000389737.4	+	9	1927				TRMT44_ENST00000513449.2_Silent_p.R410R	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCTTAGGGAGGGGCTAGCACG	0.478											OREG0016098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000513449.2																			0											c.(1228-1230)agG>agA		tRNA methyltransferase 44 homolog (S. cerevisiae)							40.0	46.0	44.0					4																	8470099		2203	4298	6501	SO:0001627	intron_variant	152992							g.chr4:8470099G>A	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1927+26G>A	4.37:g.8470099G>A			OREG0016098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	649	TRMT44_ENST00000389737.4_Intron	p.R410R							9	1479	+								Q8NA95	Silent	SNP	ENST00000389737.4	37	c.1230G>A	CCDS3402.2																																																																																				0.478	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		19	39	0	0	0	1	0	19	39				
GPBP1L1	60313	broad.mit.edu	37	1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	ENST00000290795.3	-	5	1522	c.301C>T	c.(301-303)Cga>Tga	p.R101*	GPBP1L1_ENST00000355105.3_Nonsense_Mutation_p.R101*			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(301-303)Cga>Tga		GC-rich promoter binding protein 1-like 1							85.0	76.0	79.0					1																	46120391		2203	4300	6503	SO:0001587	stop_gained	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120391G>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.301C>T	1.37:g.46120391G>A	ENSP00000290795:p.Arg101*					GPBP1L1_ENST00000290795.3_Nonsense_Mutation_p.R101*	p.R101*	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			6	1661	-	Acute lymphoblastic leukemia(166;0.155)		101					D3DQ10|Q9H751	Nonsense_Mutation	SNP	ENST00000290795.3	37	c.301C>T	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	48	14.233875	0.99785	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	.	.	.	5.95	4.03	0.46877	.	0.057315	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.4507	15.2662	0.73663	0.0:0.0:0.7434:0.2565	.	.	.	.	X	101	.	ENSP00000290795:R101X	R	-	1	2	GPBP1L1	45892978	1.000000	0.71417	0.741000	0.31004	0.896000	0.52359	5.858000	0.69532	0.805000	0.34159	0.655000	0.94253	CGA		0.557	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		26	34	0	0	0	1	0	26	34				
ZAN	7455	broad.mit.edu	37	7	100349991	100349991	+	RNA	SNP	T	T	C	rs560599163	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:100349991T>C	ENST00000348028.3	+	0	2428				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S755P(5)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.517													t|||	35	0.00698882	0.0038	0.0101	5008	,	,		14901	0.005		0.0129	False		,,,				2504	0.0051					ENST00000542585.1																			5	Substitution - Missense(5)	p.S755P(5)	endometrium(4)|NS(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							122.0	136.0	131.0					7																	100349991		1816	4060	5876			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349991T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349991T>C						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2411	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	t	5.435	0.265377	0.10294	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;0.11;-0.03	4.24	0.21	0.15231	.	.	.	.	.	T	0.29716	0.0742	N	0.01140	-0.99	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.33940	T	0.23	.	7.9077	0.29771	0.0:0.5221:0.0:0.4779	.	755;755	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	755	ENSP00000445943:S755P;ENSP00000445091:S755P;ENSP00000444427:S755P	ENSP00000423579:S755P	S	+	1	0	ZAN	100187927	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.770000	0.00371	-0.086000	0.12550	-0.766000	0.03442	TCC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	172	0	0	0	1	0	10	172				
PRDM9	56979	broad.mit.edu	37	5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:23509638G>T	ENST00000296682.3	+	3	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCAGAGATGGGAGACTGGG	0.433										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(127-129)atG>atT		PR domain containing 9							212.0	197.0	201.0					5																	23509638		1870	4120	5990	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509638G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.129G>T	5.37:g.23509638G>T	ENSP00000296682:p.Met43Ile	HNSCC(3;0.000094)					p.M43I	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			3	311	+			43			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.129G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771536	0.49680	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01629	4.72;4.72	2.76	2.76	0.32466	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.05777	0.0151	L	0.48362	1.52	0.24772	N	0.992867	P	0.49559	0.925	D	0.65140	0.932	T	0.24621	-1.0155	9	0.87932	D	0	-1.2549	9.1521	0.36969	0.0:0.0:1.0:0.0	.	43	Q9NQV7	PRDM9_HUMAN	I	43	ENSP00000425471:M43I;ENSP00000296682:M43I	ENSP00000296682:M43I	M	+	3	0	PRDM9	23545395	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.247000	0.32815	1.840000	0.53500	0.609000	0.83330	ATG		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	165	1	0	5.9392e-07	1	5.9392e-07	6	165				
LAT	27040	broad.mit.edu	37	16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	ENST00000360872.5	+	1	104	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	LAT_ENST00000395456.2_Missense_Mutation_p.C9Y|LAT_ENST00000564277.1_Missense_Mutation_p.C9Y|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR			O43561	LAT_HUMAN	linker for activation of T cells	9					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTGGTCCCCTGCGTGCTGGGG	0.642																																						ENST00000395456.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(25-27)tGc>tAc		linker for activation of T cells							64.0	55.0	58.0					16																	28996764		2197	4300	6497	SO:0001583	missense	0				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28996764G>A	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.26G>A	16.37:g.28996764G>A	ENSP00000354119:p.Cys9Tyr					LAT_ENST00000564277.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_Missense_Mutation_p.C9Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y	p.C9Y	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN			1	348	+		Hepatocellular(780;0.244)	9					B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	c.26G>A	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550497	0.45383	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	3.46	-6.91	0.01649	.	.	.	.	.	T	0.08358	0.0208	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26224	-1.0109	8	0.87932	D	0	5.3027	0.3229	0.00306	0.2299:0.1675:0.2524:0.3502	.	9;9;45;9;9	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	Y	45;9;9;9;9	.	ENSP00000346441:C9Y	C	+	2	0	LAT	28904265	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	-2.924000	0.00692	-1.762000	0.01308	0.462000	0.41574	TGC		0.642	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			26	52	0	0	0	1	0	26	52				
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G	rs534390661	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33.0	40.0	38.0					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	120	0	0	0	1	0	7	120				
ERICH3	127254	broad.mit.edu	37	1	75038487	75038487	+	Silent	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	ENST00000326665.5	-	14	3125	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		969	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTTCAGAACCGTCCTCTC	0.522																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2905-2907)ggT>ggG		chromosome 1 open reading frame 173							140.0	130.0	133.0					1																	75038487		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038487A>C																												ENST00000326665.5:c.2907T>G	1.37:g.75038487A>C						C1orf173_ENST00000433746.2_5'UTR	p.G969G	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3125	-			969			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2907T>G	CCDS30755.1																																																																																				0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			44	76	0	0	0	1	0	44	76				
OTUD7B	56957	broad.mit.edu	37	1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	ENST00000369135.4	-	12	1732	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	480					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1438-1440)Gag>Aag		OTU domain containing 7B							130.0	134.0	133.0					1																	149916850		2088	4219	6307	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916850C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1438G>A	1.37:g.149916850C>T	ENSP00000358131:p.Glu480Lys						p.E480K	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1732	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		480					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1438G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	3.457	-0.110775	0.06924	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.29655	1.56	4.99	4.99	0.66335	.	0.139866	0.64402	D	0.000007	T	0.08313	0.0207	N	0.08118	0	0.47037	D	0.999292	B	0.24882	0.113	B	0.22880	0.042	T	0.13469	-1.0508	9	.	.	.	-4.5667	17.451	0.87592	0.0:1.0:0.0:0.0	.	480	Q6GQQ9	OTU7B_HUMAN	K	480	ENSP00000358131:E480K	.	E	-	1	0	OTUD7B	148183474	0.268000	0.24133	0.998000	0.56505	0.343000	0.28985	1.432000	0.34936	2.600000	0.87896	0.557000	0.71058	GAG		0.582	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		8	156	0	0	0	1	0	8	156				
HCN2	610	broad.mit.edu	37	19	613254	613254	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	ENST00000251287.2	+	6	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	531					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCAGGAGATCGTCAACTTCAA	0.672																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(1591-1593)Gtc>Atc		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							36.0	32.0	34.0					19																	613254		2201	4297	6498	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:613254G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1591G>A	19.37:g.613254G>A	ENSP00000251287:p.Val531Ile						p.V531I	NM_001194.3	NP_001185.3	Q9UL51	HCN2_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)	6	1644	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	531					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1591G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	6.501	0.460576	0.12342	.	.	ENSG00000099822	ENST00000251287	D	0.96427	-4.01	3.84	3.84	0.44239	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.89670	0.6782	N	0.12182	0.205	0.54753	D	0.99998	B	0.15473	0.013	B	0.09377	0.004	D	0.85087	0.0949	9	0.06625	T	0.88	.	15.1013	0.72279	0.0:0.0:1.0:0.0	.	531	Q9UL51	HCN2_HUMAN	I	531	ENSP00000251287:V531I	ENSP00000251287:V531I	V	+	1	0	HCN2	564254	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.931000	0.56529	1.860000	0.53959	0.493000	0.49557	GTC		0.672	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		17	32	0	0	0	1	0	17	32				
EPN3	55040	broad.mit.edu	37	17	48613860	48613860	+	5'UTR	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:48613860G>A	ENST00000268933.3	+	0	522				RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.A64T|EPN3_ENST00000541226.1_5'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3							clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCCACAGTGGCCCTCAGCCC	0.647																																						ENST00000537145.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(190-192)Gcc>Acc		epsin 3																																				SO:0001623	5_prime_UTR_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48613860G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.-58G>A	17.37:g.48613860G>A						EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000268933.3_5'UTR	p.A64T			Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	327	+	Breast(11;1.23e-18)		225			ENTH.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.190G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268070	0.40095	.	.	ENSG00000049283	ENST00000442715;ENST00000537145	T	0.15834	2.39	5.41	3.43	0.39272	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.80722	D	1	P	0.40107	0.703	B	0.40101	0.319	T	0.02581	-1.1138	8	0.87932	D	0	.	7.3606	0.26744	0.1926:0.0:0.8074:0.0	.	64	F6QWW5	.	T	64	ENSP00000439512:A64T	ENSP00000408537:A64T	A	+	1	0	EPN3	45968859	1.000000	0.71417	0.998000	0.56505	0.483000	0.33249	1.563000	0.36364	1.291000	0.44653	0.462000	0.41574	GCC		0.647	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		30	61	0	0	0	1	0	30	61				
SCN5A	6331	broad.mit.edu	37	3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	ENST00000333535.4	-	2	228	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R27C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	27			R -> H (in BRGDA1). {ECO:0000269|PubMed:11901046}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGCCATGCGCTTCTCGATG	0.647																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(79-81)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						35.0	38.0	37.0					3																	38674720		2016	4161	6177	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38674720G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.79C>T	3.37:g.38674720G>A	ENSP00000328968:p.Arg27Cys					SCN5A_ENST00000333535.4_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C	p.R27C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	2	272	-	Medulloblastoma(35;0.163)		27		R -> H (in BRS1).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.79C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158330	0.78114	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	D;D;D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.55	4.55	0.56014	.	0.059558	0.64402	D	0.000003	D	0.91761	0.7394	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0	P;P;P;P;D;P	0.67103	0.765;0.732;0.828;0.791;0.949;0.897	D	0.93452	0.6803	10	0.87932	D	0	.	17.4987	0.87725	0.0:0.0:1.0:0.0	.	27;27;27;27;27;27	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	27	ENSP00000398962:R27C;ENSP00000398266:R27C;ENSP00000410257:R27C;ENSP00000388797:R27C;ENSP00000397915:R27C;ENSP00000416634:R27C;ENSP00000328968:R27C;ENSP00000399524:R27C;ENSP00000403355:R27C;ENSP00000413996:R27C;ENSP00000333674:R27C	ENSP00000333674:R27C	R	-	1	0	SCN5A	38649724	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.593000	0.82686	2.349000	0.79799	0.491000	0.48974	CGC		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		19	45	0	0	0	1	0	19	45				
SALL3	27164	broad.mit.edu	37	18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	ENST00000537592.2	+	2	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000575389.2_Missense_Mutation_p.A86V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	86					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGAGGACGCGCCCGCGCCG	0.726																																						ENST00000575389.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(256-258)gCg>gTg		spalt-like transcription factor 3							19.0	21.0	21.0					18																	76752248		2189	4293	6482	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752248C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.257C>T	18.37:g.76752248C>T	ENSP00000441823:p.Ala86Val					SALL3_ENST00000537592.2_Missense_Mutation_p.A86V|SALL3_ENST00000536229.3_5'UTR	p.A86V			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	257	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	86					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.257C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120540	0.20877	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08634	3.07	4.52	0.311	0.15831	.	0.238521	0.28219	N	0.016149	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45716	-0.9242	10	0.31617	T	0.26	-31.1755	7.7856	0.29091	0.4338:0.4355:0.0:0.1306	.	86	Q9BXA9	SALL3_HUMAN	V	86	ENSP00000441823:A86V	ENSP00000299466:A86V	A	+	2	0	SALL3	74853236	1.000000	0.71417	0.995000	0.50966	0.089000	0.18198	1.202000	0.32271	0.204000	0.20548	-0.397000	0.06425	GCG		0.726	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		10	20	0	0	0	1	0	10	20				
KRTAP5-1	387264	broad.mit.edu	37	11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C	rs201819023	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													C|||	3	0.000599042	0.0008	0.0	5008	,	,		8750	0.002		0.0	False		,,,				2504	0.0					ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(214-216)tCt>tGt		keratin associated protein 5-1							69.0	86.0	81.0					11																	1606265		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1606265G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.215C>G	11.37:g.1606265G>C	ENSP00000371606:p.Ser72Cys					KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	p.S72C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	248	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	72			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.215C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685544	0.14973	.	.	ENSG00000205869	ENST00000382171	T	0.04119	3.7	3.53	3.53	0.40419	.	.	.	.	.	T	0.01558	0.0050	N	0.00188	-1.89	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.72032	D	0.01	.	11.0665	0.47979	0.0:0.8095:0.1905:0.0	.	72	Q6L8H4	KRA51_HUMAN	C	72	ENSP00000371606:S72C	ENSP00000371606:S72C	S	-	2	0	KRTAP5-1	1562841	0.000000	0.05858	0.991000	0.47740	0.354000	0.29330	-0.178000	0.09782	0.634000	0.30469	-0.401000	0.06369	TCT		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		6	281	0	0	0	1	0	6	281				
CCDC30	728621	broad.mit.edu	37	1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	ENST00000340612.4	+	12	1856	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000428554.2_Missense_Mutation_p.R619Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	619						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1855-1857)cGa>cAa		coiled-coil domain containing 30							122.0	106.0	112.0					1																	43110444		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43110444G>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1856G>A	1.37:g.43110444G>A	ENSP00000340378:p.Arg619Gln					CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000340612.4_Missense_Mutation_p.R619Q	p.R619Q			Q5VVM6	CCD30_HUMAN			20	2999	+			619					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1856G>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049062	0.36181	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.5	1.53	0.23141	.	0.517808	0.19144	N	0.121626	T	0.22859	0.0552	L	0.36672	1.1	0.09310	N	1	P;P	0.48350	0.795;0.909	B;B	0.33454	0.117;0.164	T	0.15954	-1.0419	10	0.24483	T	0.36	.	7.4196	0.27065	0.36:0.0:0.64:0.0	.	619;408	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Q	619;408;619;619;408	ENSP00000397035:R619Q;ENSP00000426711:R408Q;ENSP00000340378:R619Q;ENSP00000339280:R619Q;ENSP00000375051:R408Q	ENSP00000340378:R619Q	R	+	2	0	CCDC30	42883031	0.526000	0.26298	0.003000	0.11579	0.896000	0.52359	0.589000	0.23939	0.094000	0.17404	0.655000	0.94253	CGA		0.428	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		22	47	0	0	0	1	0	22	47				
DNM1P47	100216544	broad.mit.edu	37	15	102303120	102303120	+	RNA	SNP	C	C	G	rs547715901	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:102303120C>G	ENST00000561463.1	+	0	11166									DNM1 pseudogene 47																		CTTCTCAGAGCTGCTGTCCAA	0.592													.|||	3	0.000599042	0.0015	0.0014	5008	,	,		36190	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			0							g.chr15:102303120C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303120C>G														0	11166	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	39	0	0	0	1	0	3	39				
MID1	4281	broad.mit.edu	37	X	10534972	10534972	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N|MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	206					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(616-618)Gat>Aat		midline 1 (Opitz/BBB syndrome)							104.0	83.0	90.0					X																	10534972		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10534972C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.616G>A	X.37:g.10534972C>T	ENSP00000312678:p.Asp206Asn					MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N	p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			2	1016	-			206					B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.616G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975322	0.74360	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.64	5.64	0.86602	Zinc finger, B-box (3);	0.043334	0.85682	D	0.000000	T	0.38161	0.1030	N	0.24115	0.695	0.80722	D	1	P;B;B	0.38195	0.622;0.369;0.096	B;B;B	0.33750	0.169;0.093;0.046	T	0.21484	-1.0244	10	0.12430	T	0.62	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	206;206;206	C9J453;O15344-2;O15344	.;.;TRI18_HUMAN	N	206	ENSP00000414521:D206N;ENSP00000312678:D206N;ENSP00000370162:D206N;ENSP00000370156:D206N;ENSP00000370164:D206N;ENSP00000370157:D206N;ENSP00000370159:D206N;ENSP00000391154:D206N	ENSP00000312678:D206N	D	-	1	0	MID1	10494972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAT		0.488	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			25	57	0	0	0	1	0	25	57				
PIK3R6	146850	broad.mit.edu	37	17	8741186	8741186	+	Silent	SNP	C	C	T	rs149242502		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	ENST00000311434.9	-	5	431	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCTGGCTTTCCGCCTGGAAAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		21461	0.001		0.0	False		,,,				2504	0.0					ENST00000311434.9																			0											c.(190-192)gcG>gcA		phosphoinositide-3-kinase, regulatory subunit 6							113.0	118.0	116.0					17																	8741186		2116	4224	6340	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8741186C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.192G>A	17.37:g.8741186C>T						PIK3R6_ENST00000434064.2_5'UTR	p.A64A	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			5	431	-			64					Q658R3	Silent	SNP	ENST00000311434.9	37	c.192G>A																																																																																					0.582	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		27	56	0	0	0	1	0	27	56				
HADHA	3030	broad.mit.edu	37	2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	ENST00000380649.3	-	5	539	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	137					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGCCACAATAGGCTTTGT	0.443																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(409-411)aTt>aCt		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						122.0	112.0	115.0					2																	26457128		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457128A>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.410T>C	2.37:g.26457128A>G	ENSP00000370023:p.Ile137Thr					HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	p.I137T	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			5	539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		137					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.410T>C	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260284	0.80246	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.68181	-0.31;-0.31	5.81	5.81	0.92471	Crotonase, core (1);	0.297133	0.40222	N	0.001144	T	0.61664	0.2365	L	0.35793	1.09	0.50467	D	0.999876	B;P;P	0.36909	0.002;0.573;0.573	B;B;B	0.41813	0.064;0.367;0.367	T	0.60332	-0.7284	10	0.32370	T	0.25	-6.7002	14.1229	0.65201	1.0:0.0:0.0:0.0	.	50;137;137	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	T	137;50	ENSP00000370023:I137T;ENSP00000405344:I50T	ENSP00000370023:I137T	I	-	2	0	HADHA	26310632	1.000000	0.71417	0.819000	0.32651	0.925000	0.55904	8.474000	0.90413	2.225000	0.72522	0.533000	0.62120	ATT		0.443	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		21	42	0	0	0	1	0	21	42				
CALML3	810	broad.mit.edu	37	10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	ENST00000315238.1	+	1	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5						c.(91-93)cGc>cAc		calmodulin-like 3							65.0	53.0	57.0					10																	5567140		2203	4300	6503	SO:0001583	missense	810						calcium ion binding	g.chr10:5567140G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.92G>A	10.37:g.5567140G>A	ENSP00000315299:p.Arg31His					RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	p.R31H	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			1	217	+			31			EF-hand 1.		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	c.92G>A	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	6.380	0.438267	0.12104	.	.	ENSG00000178363	ENST00000315238	D	0.84660	-1.88	5.08	-3.77	0.04346	EF-hand-like domain (1);	0.914184	0.09043	N	0.857058	T	0.71771	0.3379	N	0.16201	0.385	0.25745	N	0.985111	B	0.06786	0.001	B	0.01281	0.0	T	0.58261	-0.7667	10	0.87932	D	0	-16.6004	11.3678	0.49681	0.8391:0.0:0.1609:0.0	.	31	P27482	CALL3_HUMAN	H	31	ENSP00000315299:R31H	ENSP00000315299:R31H	R	+	2	0	CALML3	5557140	0.867000	0.29959	0.789000	0.31954	0.017000	0.09413	0.554000	0.23407	-0.622000	0.05626	-1.058000	0.02302	CGC		0.647	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		18	22	0	0	0	1	0	18	22				
PPP2R5D	5528	broad.mit.edu	37	6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	ENST00000485511.1	+	6	847	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	223					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(667-669)tCt>tTt		protein phosphatase 2, regulatory subunit B', delta							246.0	221.0	230.0					6																	42975186		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975186C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.668C>T	6.37:g.42975186C>T	ENSP00000417963:p.Ser223Phe					PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F	p.S223F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	847	+			223					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.668C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609235	0.87258	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.56444	0.46;0.5;0.47;0.55	5.81	5.81	0.92471	Armadillo-type fold (1);	0.112313	0.64402	D	0.000005	T	0.80204	0.4580	H	0.97340	3.985	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.957;0.973;0.999;0.984	D	0.86419	0.1753	10	0.87932	D	0	-12.1576	15.5975	0.76599	0.0:0.8631:0.1369:0.0	.	117;223;223;191	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	F	223;191;215;223;117	ENSP00000417963:S223F;ENSP00000377669:S191F;ENSP00000420550:S215F;ENSP00000420674:S117F	ENSP00000377669:S191F	S	+	2	0	PPP2R5D	43083164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.755000	0.94549	0.650000	0.86243	TCT		0.512	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		45	82	0	0	0	1	0	45	82				
TMPRSS6	164656	broad.mit.edu	37	22	37471260	37471260	+	Silent	SNP	G	G	A	rs572632950	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	ENST00000346753.3	-	11	1400	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	TMPRSS6_ENST00000381792.2_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A|TMPRSS6_ENST00000406725.1_Silent_p.A419A	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	428	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTGATCCCGGCCGTGGCCA	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17604	0.0		0.0	False		,,,				2504	0.001					ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1255-1257)gcC>gcT		transmembrane protease, serine 6							61.0	64.0	63.0					22																	37471260		2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37471260G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1284C>T	22.37:g.37471260G>A						TMPRSS6_ENST00000406725.1_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A|TMPRSS6_ENST00000346753.3_Silent_p.A428A	p.A419A			Q8IU80	TMPS6_HUMAN			11	1397	-			428			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.1257C>T	CCDS13941.1																																																																																				0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		50	78	0	0	0	1	0	50	78				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	50	0	0	0	1	0	3	50				
EGFL8	80864	broad.mit.edu	37	6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	ENST00000395512.1	+	7	733	c.628G>T	c.(628-630)Gct>Tct	p.A210S	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	210						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGAGCGCGCTCTGAAGCA	0.652																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(628-630)Gct>Tct		EGF-like-domain, multiple 8							44.0	45.0	45.0					6																	32135153		1509	2708	4217	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135153G>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.628G>T	6.37:g.32135153G>T	ENSP00000378888:p.Ala210Ser					PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S	p.A210S			Q99944	EGFL8_HUMAN			7	733	+			210					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.628G>T	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	0.837	-0.743096	0.03088	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.89123	-2.47;-2.47;2.14	5.45	1.11	0.20524	.	.	.	.	.	T	0.62600	0.2441	L	0.37750	1.13	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50021	-0.8876	9	0.10902	T	0.67	-6.7557	5.4355	0.16478	0.1705:0.0:0.5379:0.2916	.	210	Q99944	EGFL8_HUMAN	S	210;210;190	ENSP00000333380:A210S;ENSP00000378888:A210S;ENSP00000401694:A190S	ENSP00000333380:A210S	A	+	1	0	EGFL8	32243131	0.000000	0.05858	0.062000	0.19696	0.004000	0.04260	-0.427000	0.06999	0.270000	0.21984	-0.448000	0.05591	GCT		0.652	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		36	44	1	0	3.76114e-14	1	3.84116e-14	36	44				
MEP1A	4224	broad.mit.edu	37	6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507																																						ENST00000230588.4																			1	Substitution - Missense(1)	p.R402H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1204-1206)cGc>cAc		meprin A, alpha (PABA peptide hydrolase)							82.0	83.0	82.0					6																	46800871		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800871G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1205G>A	6.37:g.46800871G>A	ENSP00000230588:p.Arg402His						p.R402H	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1214	+			402			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1205G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254006	0.95336	.	.	ENSG00000112818	ENST00000230588	T	0.02301	4.35	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.87932	D	0	-21.1973	19.5623	0.95376	0.0:0.0:1.0:0.0	.	430;402	B7ZL91;Q16819	.;MEP1A_HUMAN	H	402	ENSP00000230588:R402H	ENSP00000230588:R402H	R	+	2	0	MEP1A	46908830	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	CGC		0.507	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		34	73	0	0	0	1	0	34	73				
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	1970	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1305	1732	1	0	1.82951e-191	1	1.95147e-191	1305	1732				
TGM5	9333	broad.mit.edu	37	15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G	rs201451548	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	ENST00000220420.5	-	6	782	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	259					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGATGGCCACGCTGCCCGTC	0.567																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(775-777)Gtg>Ctg		transglutaminase 5	L-Glutamine(DB00130)						83.0	75.0	77.0					15																	43545044		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545044C>G	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.775G>C	15.37:g.43545044C>G	ENSP00000220420:p.Val259Leu					TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	p.V259L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	782	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	259					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.775G>C	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080153	0.76528	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.86366	-2.11;-2.11	4.64	4.64	0.57946	.	0.239522	0.35585	N	0.003117	D	0.92753	0.7696	M	0.85542	2.76	0.28502	N	0.913962	D;D	0.76494	0.974;0.999	P;D	0.75484	0.834;0.986	D	0.87590	0.2490	10	0.72032	D	0.01	-16.8399	9.0957	0.36638	0.0:0.898:0.0:0.102	.	177;259	O43548-2;O43548	.;TGM5_HUMAN	L	259;177;258	ENSP00000220420:V259L;ENSP00000220419:V177L	ENSP00000220420:V259L	V	-	1	0	TGM5	41332336	0.341000	0.24801	0.997000	0.53966	0.826000	0.46750	2.982000	0.49337	2.281000	0.76405	0.561000	0.74099	GTG		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		43	87	0	0	0	1	0	43	87				
HSPA2	3306	broad.mit.edu	37	14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	ENST00000394709.1	+	2	239	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Missense_Mutation_p.A55T			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(163-165)Gcc>Acc		heat shock 70kDa protein 2							99.0	73.0	82.0					14																	65007730		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007730G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.163G>A	14.37:g.65007730G>A	ENSP00000378199:p.Ala55Thr					HSPA2_ENST00000394709.1_Missense_Mutation_p.A55T|HSPA2_ENST00000554883.1_Intron	p.A55T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	545	+			55					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.163G>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733828	0.89482	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01076	5.37;5.37	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.08403	0.0209	M	0.93808	3.46	0.58432	D	0.999999	D	0.61080	0.989	P	0.53450	0.726	T	0.02031	-1.1226	10	0.87932	D	0	-6.5289	19.1451	0.93461	0.0:0.0:1.0:0.0	.	55	P54652	HSP72_HUMAN	T	55	ENSP00000378199:A55T;ENSP00000247207:A55T	ENSP00000247207:A55T	A	+	1	0	HSPA2	64077483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC		0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			22	72	0	0	0	1	0	22	72				
PRAMEF1	65121	broad.mit.edu	37	1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	ENST00000332296.7	+	4	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	441					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGTACACTGAGGGAAGTC	0.562																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1321-1323)cTg>cAg		PRAME family member 1							169.0	173.0	172.0					1																	12856042		2202	4298	6500	SO:0001583	missense	65121							g.chr1:12856042T>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1322T>A	1.37:g.12856042T>A	ENSP00000332134:p.Leu441Gln					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	p.L441Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1425	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	441					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1322T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.638756	0.29157	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.46451	0.87;0.87	1.56	1.56	0.23342	.	0.339120	0.23492	N	0.047596	T	0.61426	0.2346	M	0.86343	2.81	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.48736	-0.9009	10	0.87932	D	0	.	5.2173	0.15350	0.0:0.0:0.0:1.0	.	441	O95521	PRAM1_HUMAN	Q	441;196	ENSP00000332134:L441Q;ENSP00000383616:L196Q	ENSP00000332134:L441Q	L	+	2	0	PRAMEF1	12778629	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.408000	0.34668	0.966000	0.38159	0.172000	0.16884	CTG		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		46	289	0	0	0	1	0	46	289				
CD99	4267	broad.mit.edu	37	X	2656284	2656284	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:2656284C>T	ENST00000381192.3	+	9	701	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CD99_ENST00000381187.3_Silent_p.N157N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	173			N -> I (in dbSNP:rs4717).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGAATGCCAACGCAGAGCCAG	0.527																																						ENST00000381192.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(517-519)aaC>aaT		CD99 molecule		C	,	1,4405		0,1,2202	353.0	331.0	338.0		471,519	0.1	0.0	X		338	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CD99	NM_001122898.1,NM_002414.3	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	157/170,173/186	2656284	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2656284C>T	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.519C>T	X.37:g.2656284C>T						CD99_ENST00000381187.3_Silent_p.N157N	p.N173N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN			9	701	+			173		N -> I (in dbSNP:rs4717).			A6NIW1|O00518|Q6ICV7	Silent	SNP	ENST00000381192.3	37	c.519C>T	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	C	0.649	-0.810257	0.02798	2.27E-4	0.0	ENSG00000002586	ENST00000381177	.	.	.	1.08	0.0756	0.14399	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37888	-0.9686	5	0.87932	D	0	.	4.5958	0.12329	0.0:0.5894:0.4106:0.0	.	.	.	.	C	72	.	ENSP00000370570:R72C	R	+	1	0	CD99	2666284	0.000000	0.05858	0.038000	0.18304	0.088000	0.18126	-1.480000	0.02325	-0.030000	0.13804	0.429000	0.28392	CGC		0.527	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		6	219	0	0	0	1	0	6	219				
CD163L1	283316	broad.mit.edu	37	12	7527057	7527057	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	ENST00000313599.3	-	13	3447	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	CD163L1_ENST00000416109.2_Silent_p.D1140D|CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1130	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACCCCTGCGTCCTCCTTGT	0.567																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3388-3390)gaC>gaT		CD163 molecule-like 1							98.0	84.0	89.0					12																	7527057		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527057G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3390C>T	12.37:g.7527057G>A						CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000416109.2_Silent_p.D1140D	p.D1130D			Q9NR16	C163B_HUMAN			13	3447	-			1130			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3390C>T	CCDS8577.1																																																																																				0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		44	73	0	0	0	1	0	44	73				
ZHX1	11244	broad.mit.edu	37	8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	ENST00000522655.1	-	3	1061	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.S174L			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	174					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343													G|||	7	0.00139776	0.0	0.0043	5008	,	,		19799	0.0		0.004	False		,,,				2504	0.0					ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(520-522)tCg>tTg		zinc fingers and homeoboxes 1		G	LEU/SER,,LEU/SER	2,4404	2.1+/-5.4	0,2,2201	100.0	102.0	102.0		521,,521	5.2	1.0	8	dbSNP_126	102	13,8587	9.8+/-36.6	0,13,4287	yes	missense,intron,missense	ZHX1,ZHX1-C8ORF76	NM_001017926.2,NM_001204180.1,NM_007222.4	145,,145	0,15,6488	AA,AG,GG		0.1512,0.0454,0.1153	benign,,benign	174/874,,174/874	124267666	15,12991	2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267666G>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.521C>T	8.37:g.124267666G>A	ENSP00000428821:p.Ser174Leu					ZHX1_ENST00000522655.1_Missense_Mutation_p.S174L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L	p.S174L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1138	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		174					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.521C>T	CCDS6342.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	14.14	2.446451	0.43429	4.54E-4	0.001512	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.51817	0.69;0.69;0.69	5.21	5.21	0.72293	.	0.386727	0.24035	N	0.042156	T	0.39937	0.1097	.	.	.	0.35897	D	0.830109	P	0.39404	0.672	B	0.28139	0.086	T	0.56032	-0.8046	9	0.54805	T	0.06	-9.0435	18.7854	0.91952	0.0:0.0:1.0:0.0	rs35951597	174	Q9UKY1	ZHX1_HUMAN	L	174	ENSP00000297857:S174L;ENSP00000378938:S174L;ENSP00000428821:S174L	ENSP00000297857:S174L	S	-	2	0	ZHX1	124336847	0.992000	0.36948	0.986000	0.45419	0.943000	0.58893	6.494000	0.73661	2.429000	0.82318	0.505000	0.49811	TCG		0.343	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			14	59	0	0	0	1	0	14	59				
COL7A1	1294	broad.mit.edu	37	3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	ENST00000328333.8	-	10	1453	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	449	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTCACGCCGCCATTCCAA	0.632																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1345-1347)cGg>cAg		collagen, type VII, alpha 1							64.0	73.0	70.0					3																	48629342		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629342C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1346G>A	3.37:g.48629342C>T	ENSP00000332371:p.Arg449Gln					COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1453	-			449			Fibronectin type-III 3.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1346G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791825	0.31685	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57436	0.4;0.4	4.44	-0.675	0.11364	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.739382	0.11130	N	0.596433	T	0.44222	0.1283	L	0.55990	1.75	0.26835	N	0.968503	B	0.13145	0.007	B	0.11329	0.006	T	0.38693	-0.9649	10	0.42905	T	0.14	.	8.359	0.32348	0.0:0.3563:0.0:0.6437	.	449	Q02388	CO7A1_HUMAN	Q	449	ENSP00000332371:R449Q;ENSP00000412569:R449Q	ENSP00000332371:R449Q	R	-	2	0	COL7A1	48604346	0.070000	0.21116	0.994000	0.49952	0.952000	0.60782	-0.169000	0.09911	-0.136000	0.11475	0.462000	0.41574	CGG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		99	77	0	0	0	1	0	99	77				
MTMR12	54545	broad.mit.edu	37	5	32235068	32235068	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	ENST00000382142.3	-	14	1682	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	MTMR12_ENST00000280285.5_Splice_Site_p.M504I|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000510216.1_5'Flank|RNU6-1079P_ENST00000362861.1_RNA	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	504	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e14+1		myotubularin related protein 12							107.0	106.0	107.0					5																	32235068		2203	4300	6503	SO:0001630	splice_region_variant	54545					cytoplasm	phosphatase activity	g.chr5:32235068C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1512+1G>A	5.37:g.32235068C>T						MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Splice_Site_p.M504_splice	p.M504_splice	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			14	1682	-			504			Interaction with MTM1.|Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	SNP	ENST00000382142.3	37	c.1512_splice	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092668	0.20471	.	.	ENSG00000150712	ENST00000280285;ENST00000382142	D;D	0.89939	-2.59;-2.59	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	1.080400	0.07016	N	0.825934	T	0.82010	0.4944	N	0.05510	-0.035	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.004	T	0.60219	-0.7306	9	.	.	.	.	19.3766	0.94512	0.0:1.0:0.0:0.0	.	504;504	Q9C0I1-2;Q9C0I1	.;MTMRC_HUMAN	I	504	ENSP00000280285:M504I;ENSP00000371577:M504I	.	M	-	3	0	MTMR12	32270825	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	3.236000	0.51336	2.565000	0.86533	0.561000	0.74099	ATG		0.378	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	Missense_Mutation	13	33	0	0	0	1	0	13	33				
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44.0	56.0	52.0					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			9	103	0	0	0	1	0	9	103				
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(337-339)tgC>tgT		DDB1 and CUL4 associated factor 12-like 1							112.0	85.0	94.0					X																	125686253		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686253G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.339C>T	X.37:g.125686253G>A							p.C113C	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	581	-			113					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.339C>T	CCDS14610.1																																																																																				0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		4	124	0	0	0	1	0	4	124				
DNM1	1759	broad.mit.edu	37	9	130988317	130988317	+	Intron	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:130988317G>A	ENST00000372923.3	+	10	1427				DNM1_ENST00000341179.7_Intron|DNM1_ENST00000393594.3_Silent_p.T400T|DNM1_ENST00000475805.1_Silent_p.T400T|DNM1_ENST00000486160.1_Silent_p.T400T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1						endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTGCAGGACGGGCCTCTTCA	0.582																																					GBM(113;146 1575 2722 28670 29921)	ENST00000393594.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1198-1200)acG>acA		dynamin 1							52.0	51.0	52.0					9																	130988317		876	1991	2867	SO:0001627	intron_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130988317G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1335+1649G>A	9.37:g.130988317G>A						DNM1_ENST00000486160.1_Silent_p.T400T|DNM1_ENST00000475805.1_Silent_p.T400T|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000341179.7_Intron	p.T400T			Q05193	DYN1_HUMAN			10	1254	+			400					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.1200G>A	CCDS6895.1																																																																																				0.582	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		12	85	0	0	0	1	0	12	85				
ZNF679	168417	broad.mit.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(31-33)cGa>cAa		zinc finger protein 679							45.0	37.0	39.0					7																	63709527		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63709527G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.32G>A	7.37:g.63709527G>A	ENSP00000416809:p.Arg11Gln					ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			2	301	+			11						Missense_Mutation	SNP	ENST00000421025.1	37	c.32G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	0.443	-0.897384	0.02472	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.05925	3.37;3.37	0.421	-0.769	0.11009	Krueppel-associated box (1);	.	.	.	.	T	0.02688	0.0081	N	0.16201	0.385	0.09310	N	1	P	0.40376	0.715	B	0.32928	0.155	T	0.43343	-0.9397	8	0.27082	T	0.32	.	.	.	.	.	11	Q8IYX0	ZN679_HUMAN	Q	11	ENSP00000416809:R11Q;ENSP00000255746:R11Q	ENSP00000255746:R11Q	R	+	2	0	ZNF679	63346962	0.004000	0.15560	0.004000	0.12327	0.004000	0.04260	-2.224000	0.01213	-0.490000	0.06707	-0.485000	0.04761	CGA		0.572	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		16	66	0	0	0	1	0	16	66				
KIAA1683	80726	broad.mit.edu	37	19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	ENST00000600328.3	-	3	1106	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_ENST00000392413.4_Missense_Mutation_p.A305T|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A259T			Q9H0B3	K1683_HUMAN	KIAA1683	305						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCGTAACTGCCTGGTCATAC	0.567																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(913-915)Gca>Aca		KIAA1683							123.0	130.0	128.0					19																	18377437		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377437C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.913G>A	19.37:g.18377437C>T	ENSP00000470780:p.Ala305Thr					KIAA1683_ENST00000600328.2_Missense_Mutation_p.A305T|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A259T	p.A305T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	1128	-			305					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.913G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401113	0.42613	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.04970	3.63;3.6;3.52	3.06	0.586	0.17434	.	0.944627	0.08652	N	0.913859	T	0.04227	0.0117	L	0.34521	1.04	0.09310	N	1	P;B	0.37330	0.59;0.107	B;B	0.31191	0.125;0.032	T	0.40175	-0.9577	10	0.41790	T	0.15	-4.6607	2.8455	0.05541	0.2605:0.5643:0.0:0.1752	.	305;305	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	305;305;259;304	ENSP00000376213:A305T;ENSP00000352774:A305T;ENSP00000404501:A259T	ENSP00000351198:A304T	A	-	1	0	KIAA1683	18238437	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.098000	0.11024	0.213000	0.20722	0.467000	0.42956	GCA		0.567	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			41	138	0	0	0	1	0	41	138				
TRDMT1	1787	broad.mit.edu	37	10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	ENST00000377799.3	-	4	334	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	96	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GAAGCTATTCGTCCTTGAATC	0.343																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(286-288)aCg>aGg		tRNA aspartic acid methyltransferase 1							119.0	126.0	124.0					10																	17204201		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17204201G>C	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.287C>G	10.37:g.17204201G>C	ENSP00000367030:p.Thr96Arg					TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000412821.3_Intron	p.T96R	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			4	334	-			96					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.287C>G	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642967	0.87859	.	.	ENSG00000107614	ENST00000377799;ENST00000457442	T;T	0.40476	1.03;1.03	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.983	D;D;D	0.68353	0.957;0.944;0.928	T	0.65014	-0.6271	10	0.62326	D	0.03	-16.982	20.6593	0.99626	0.0:0.0:1.0:0.0	.	25;37;96	B7Z1Y7;E7EMI8;O14717	.;.;TRDMT_HUMAN	R	96;37	ENSP00000367030:T96R;ENSP00000412256:T37R	ENSP00000367030:T96R	T	-	2	0	TRDMT1	17244207	1.000000	0.71417	0.972000	0.41901	0.707000	0.40811	6.899000	0.75682	2.885000	0.99019	0.655000	0.94253	ACG		0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		33	34	0	0	0	1	0	33	34				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	130	0	0	0	1	0	4	130				
TMPRSS13	84000	broad.mit.edu	37	11	117774318	117774318	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:117774318C>T	ENST00000445164.2	-	12	1802	c.1729G>A	c.(1729-1731)Ggt>Agt	p.G577S	TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000430170.2_Intron|TMPRSS13_ENST00000528626.1_Intron			Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	577						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGGTCCCCACCTGAGGAAGTT	0.577																																						ENST00000445164.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(1729-1731)Ggt>Agt		transmembrane protease, serine 13							31.0	30.0	30.0					11																	117774318		874	1987	2861	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117774318C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000445164.2:c.1729G>A	11.37:g.117774318C>T	ENSP00000394114:p.Gly577Ser					TMPRSS13_ENST00000528626.1_Intron|TMPRSS13_ENST00000430170.2_Intron|TMPRSS13_ENST00000524993.1_Intron	p.G577S			Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	12	1802	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	572					B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000445164.2	37	c.1729G>A		.	.	.	.	.	.	.	.	.	.	C	12.40	1.925537	0.34002	.	.	ENSG00000137747	ENST00000445164	D	0.87966	-2.32	4.66	1.61	0.23674	.	.	.	.	.	T	0.74786	0.3762	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56463	-0.7975	8	0.18276	T	0.48	.	6.3665	0.21457	0.0:0.6611:0.0:0.3389	.	572	Q9BYE2	TMPSD_HUMAN	S	577	ENSP00000394114:G577S	ENSP00000394114:G577S	G	-	1	0	TMPRSS13	117279528	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.258000	0.02863	0.108000	0.17862	0.508000	0.49915	GGT		0.577	TMPRSS13-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000392319.1	NM_032046		6	21	0	0	0	1	0	6	21				
SYN3	8224	broad.mit.edu	37	22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	ENST00000358763.2	-	8	1065	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	275	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCATGGCGACCACGCTG	0.542																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(823-825)Gcc>Acc		synapsin III		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	217.0	159.0	179.0		820,823,823	5.7	1.0	22	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	274/580,275/581,275/445	32937651	1,13005	2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32937651C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.823G>A	22.37:g.32937651C>T	ENSP00000351614:p.Ala275Thr					SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			8	1065	-			275			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.823G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886504	0.91814	0.0	1.16E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.73864	-0.3848	10	0.72032	D	0.01	-6.5177	19.88	0.96892	0.0:1.0:0.0:0.0	.	274;275;275	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	T	275	ENSP00000351614:A275T;ENSP00000330219:A275T	ENSP00000330219:A275T	A	-	1	0	SYN3	31267651	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	GCC		0.542	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	29	0	0	0	1	0	15	29				
OBSCN	84033	broad.mit.edu	37	1	228548163	228548163	+	Intron	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:228548163C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R6524*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGGTCCCCGAGGCCCTCT	0.687																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19570-19572)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16.0	20.0	19.0					1																	228548163		1953	4134	6087	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228548163C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2114C>T	1.37:g.228548163C>T						OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*	p.R6524*			Q5VST9	OBSCN_HUMAN			81	19644	+		Prostate(94;0.0405)	7545			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.19570C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	63	79.281198	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	.	.	.	4.06	-2.25	0.06888	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	2.8309	0.05499	0.4633:0.1638:0.2797:0.0932	.	.	.	.	X	6524;3643	.	ENSP00000284548:R6524X	R	+	1	2	OBSCN	226614786	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.056000	0.11787	-0.210000	0.10140	0.591000	0.81541	CGA		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	29	0	0	0	1	0	17	29				
ACSBG1	23205	broad.mit.edu	37	15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T	rs548841663		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	ENST00000258873.4	-	13	2229	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18659	0.0		0.0	False		,,,				2504	0.001					ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(2023-2025)cGg>cAg		acyl-CoA synthetase bubblegum family member 1							84.0	71.0	75.0					15																	78466000		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78466000C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2024G>A	15.37:g.78466000C>T	ENSP00000258873:p.Arg675Gln					ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	p.R675Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			13	2229	-			675					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.2024G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390704	0.42410	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10382	2.88;2.88	5.25	1.08	0.20341	.	0.456816	0.19804	N	0.105682	T	0.09642	0.0237	L	0.48260	1.515	0.28926	N	0.891863	B;B	0.10296	0.003;0.003	B;B	0.15870	0.004;0.014	T	0.14727	-1.0462	10	0.38643	T	0.18	-9.3566	8.8596	0.35249	0.0:0.6033:0.0:0.3967	.	671;675	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Q	675;433	ENSP00000258873:R675Q;ENSP00000439955:R433Q	ENSP00000258873:R675Q	R	-	2	0	ACSBG1	76253055	0.760000	0.28428	0.549000	0.28204	0.507000	0.33981	1.231000	0.32624	0.381000	0.24851	0.591000	0.81541	CGG		0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		34	48	0	0	0	1	0	34	48				
SCAF4	57466	broad.mit.edu	37	21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:33044602C>T	ENST00000286835.7	-	20	2936	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T|SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	852						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGGGCCGGGCGCCAAGAAGA	0.562																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2554-2556)Gcc>Acc		SR-related CTD-associated factor 4							40.0	44.0	43.0					21																	33044602		2202	4298	6500	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044602C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2554G>A	21.37:g.33044602C>T	ENSP00000286835:p.Ala852Thr					SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T|SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T	p.A852T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	2936	-			852					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2554G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545734	0.45280	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.51325	0.84;0.83;0.71	5.13	4.25	0.50352	.	0.098933	0.44688	N	0.000435	T	0.24470	0.0593	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.40515	0.597;0.719;0.597	B;B;B	0.26310	0.031;0.068;0.031	T	0.06232	-1.0838	10	0.21540	T	0.41	-8.7758	13.7443	0.62865	0.0:0.9261:0.0:0.0739	.	837;830;852	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	T	837;852;830	ENSP00000402377:A837T;ENSP00000286835:A852T;ENSP00000382703:A830T	ENSP00000286835:A852T	A	-	1	0	SCAF4	31966473	1.000000	0.71417	0.853000	0.33588	0.986000	0.74619	5.083000	0.64456	1.396000	0.46663	0.555000	0.69702	GCC		0.562	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		31	61	0	0	0	1	0	31	61				
ATP10B	23120	broad.mit.edu	37	5	160039781	160039781	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	ENST00000327245.5	-	18	3651	c.2805C>T	c.(2803-2805)acC>acT	p.T935T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	935					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGTGTCGGTCTGATTTA	0.493																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2803-2805)acC>acT		ATPase, class V, type 10B							75.0	75.0	75.0					5																	160039781		2121	4251	6372	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160039781G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2805C>T	5.37:g.160039781G>A							p.T935T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	3651	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	935					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2805C>T	CCDS43394.1																																																																																				0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		12	50	0	0	0	1	0	12	50				
GPR64	10149	broad.mit.edu	37	X	19031906	19031906	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	ENST00000379869.3	-	16	1160	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000354791.3_Missense_Mutation_p.H317Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y|GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	333					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCGGAGACATGGGTTTGGGGC	0.582																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(949-951)Cat>Tat		G protein-coupled receptor 64							153.0	135.0	141.0					X																	19031906		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19031906G>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.997C>T	X.37:g.19031906G>A	ENSP00000369198:p.His333Tyr					GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000379869.3_Missense_Mutation_p.H333Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y	p.H317Y			Q8IZP9	GPR64_HUMAN			15	1190	-	Hepatocellular(33;0.183)		333					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.949C>T	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784844	0.31593	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.62;1.62;1.63;1.62;1.66;1.62;1.66;1.66;1.5	5.49	-6.6	0.01824	.	1.186030	0.06152	N	0.674282	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.31485	0.261;0.325;0.205;0.325;0.325;0.205;0.205;0.325;0.205;0.219;0.13	B;B;B;B;B;B;B;B;B;B;B	0.35655	0.04;0.207;0.207;0.207;0.207;0.207;0.207;0.207;0.207;0.102;0.102	T	0.41142	-0.9525	10	0.52906	T	0.07	.	9.3123	0.37912	0.0:0.3562:0.5016:0.1422	.	303;295;303;309;317;333;311;319;330;333;317	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	333;317;317;309;303;333;311;330;319;303	ENSP00000369202:H333Y;ENSP00000369207:H317Y;ENSP00000346845:H317Y;ENSP00000369205:H309Y;ENSP00000350152:H303Y;ENSP00000369198:H333Y;ENSP00000353421:H311Y;ENSP00000350680:H330Y;ENSP00000349015:H319Y;ENSP00000344972:H303Y	ENSP00000344972:H303Y	H	-	1	0	GPR64	18941827	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.830000	0.04410	-1.632000	0.01541	0.529000	0.55759	CAT		0.582	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			88	168	0	0	0	1	0	88	168				
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T	rs202187077		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468																																						ENST00000302291.4																			2	Substitution - coding silent(2)	p.P640P(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1918-1920)ccG>ccA		leucine zipper protein 1							188.0	179.0	182.0					1																	23418835		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23418835C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1920G>A	1.37:g.23418835C>T						LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P	p.P640P			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2721	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	640					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.1920G>A	CCDS30628.1																																																																																				0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	155	0	0	0	1	0	4	155				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	87	0	0	0	1	0	6	87				
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)cGt>cAt		paraneoplastic Ma antigen family member 5							43.0	44.0	43.0					X																	152159280		2203	4298	6501	SO:0001583	missense	114824				apoptosis			g.chrX:152159280C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His					PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1301	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.863G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		42	91	0	0	0	1	0	42	91				
ITIH1	3697	broad.mit.edu	37	3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T	rs200827836	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:52824844C>T	ENST00000273283.2	+	20	2425	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*|ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTTTGCACCGAGTGTGGAA	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19914	0.0		0.0	False		,,,				2504	0.0					ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2401-2403)Cga>Tga		inter-alpha-trypsin inhibitor heavy chain 1		C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	197.0	163.0	174.0		1975,1537,1537,2401	3.8	1.0	3		174	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	659/770,513/624,513/624,801/912	52824844	1,13005	2203	4300	6503	SO:0001587	stop_gained	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52824844C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2401C>T	3.37:g.52824844C>T	ENSP00000273283:p.Arg801*					ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*|ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*|ITIH1_ENST00000542827.1_3'UTR	p.R801*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	20	2425	+			801			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Nonsense_Mutation	SNP	ENST00000273283.2	37	c.2401C>T	CCDS2864.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.600212	0.98381	0.0	1.16E-4	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	.	.	.	5.75	3.8	0.43715	.	0.186185	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1138	13.1533	0.59503	0.2988:0.7012:0.0:0.0	.	.	.	.	X	801;659;513;354;167	.	ENSP00000273283:R801X	R	+	1	2	ITIH1	52799884	0.042000	0.20092	0.997000	0.53966	0.377000	0.30045	0.135000	0.15952	1.373000	0.46208	0.655000	0.94253	CGA		0.612	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		7	224	0	0	0	1	0	7	224				
ELTD1	64123	broad.mit.edu	37	1	79470885	79470885	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(40-42)ttG>ttA		EGF, latrophilin and seven transmembrane domain containing 1							71.0	61.0	64.0					1																	79470885		1813	4079	5892	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470885C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.42G>A	1.37:g.79470885C>T							p.L14L	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	105	-			14					B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.42G>A	CCDS41352.1																																																																																				0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		9	23	0	0	0	1	0	9	23				
GLI3	2737	broad.mit.edu	37	7	42006178	42006178	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	ENST00000395925.3	-	15	2577	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	831					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S831S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			1	Substitution - coding silent(1)	p.S831S(1)	endometrium(1)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2491-2493)agC>agT		GLI family zinc finger 3							72.0	76.0	75.0					7																	42006178		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42006178G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2493C>T	7.37:g.42006178G>A						GLI3_ENST00000479210.1_5'UTR	p.S831S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	2577	-			831					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2493C>T	CCDS5465.1																																																																																				0.602	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		46	138	0	0	0	1	0	46	138				
SLC13A1	6561	broad.mit.edu	37	7	122759134	122759134	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	ENST00000194130.2	-	13	1552		c.e13+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.e13+1		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						99.0	98.0	98.0					7																	122759134		2203	4300	6503	SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122759134C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1512+1G>A	7.37:g.122759134C>T						SLC13A1_ENST00000539873.1_Splice_Site		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			13	1552	-								Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37		CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471982	0.84533	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5309	0.90992	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122546370	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.590000	0.82653	2.610000	0.88304	0.591000	0.81541	.		0.383	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	10	45	0	0	0	1	0	10	45				
FLG	2312	broad.mit.edu	37	1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T	rs201990594		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	ENST00000368799.1	-	3	5010	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1659	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCATGACGA	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4975-4977)Gag>Aag		filaggrin							301.0	302.0	301.0					1																	152282387		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282387C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4975G>A	1.37:g.152282387C>T	ENSP00000357789:p.Glu1659Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E1659K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5010	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1659			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4975G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686130	0.14973	.	.	ENSG00000143631	ENST00000368799	T	0.00856	5.61	2.32	-3.57	0.04612	.	.	.	.	.	T	0.00524	0.0017	M	0.67953	2.075	0.09310	N	1	P	0.46656	0.882	P	0.46796	0.527	T	0.30822	-0.9965	9	0.06625	T	0.88	.	10.6039	0.45384	0.0:0.274:0.726:0.0	.	1659	P20930	FILA_HUMAN	K	1659	ENSP00000357789:E1659K	ENSP00000357789:E1659K	E	-	1	0	FLG	150549011	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.085000	0.03390	-0.560000	0.06102	0.306000	0.20318	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		167	315	0	0	0	1	0	167	315				
FAM71C	196472	broad.mit.edu	37	12	100043170	100043170	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(718-720)gaG>gaA		family with sequence similarity 71, member C							131.0	132.0	131.0					12																	100043170		2203	4300	6503	SO:0001819	synonymous_variant	196472							g.chr12:100043170G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.720G>A	12.37:g.100043170G>A						ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	p.E240E	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	2	1142	+			240					B2R6Y6	Silent	SNP	ENST00000324341.1	37	c.720G>A	CCDS9072.1																																																																																				0.413	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		32	59	0	0	0	1	0	32	59				
PUS7	54517	broad.mit.edu	37	7	105142878	105142878	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:105142878T>C	ENST00000356362.2	-	5	933	c.719A>G	c.(718-720)aAg>aGg	p.K240R	PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	240					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(718-720)aAg>aGg		pseudouridylate synthase 7 homolog (S. cerevisiae)							209.0	176.0	188.0					7																	105142878		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105142878T>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.719A>G	7.37:g.105142878T>C	ENSP00000348722:p.Lys240Arg					PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			5	933	-			240					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.719A>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685399	0.47991	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.46063	0.88;0.88	5.84	5.84	0.93424	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.31065	0.9	0.54753	D	0.999985	P;P	0.50617	0.868;0.937	B;P	0.46110	0.306;0.504	T	0.07829	-1.0752	10	0.12103	T	0.63	-22.3364	15.3919	0.74751	0.0:0.0:0.0:1.0	.	240;240	B3KY42;Q96PZ0	.;PUS7_HUMAN	R	240	ENSP00000348722:K240R;ENSP00000417402:K240R	ENSP00000348722:K240R	K	-	2	0	PUS7	104930114	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	4.740000	0.62087	2.232000	0.73038	0.533000	0.62120	AAG		0.537	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		4	171	0	0	0	1	0	4	171				
GRIN3A	116443	broad.mit.edu	37	9	104356877	104356877	+	Intron	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N112N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAGCTCCCCGTTGGAAATGT	0.542																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(334-336)aaC>aaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						133.0	121.0	125.0					9																	104356877		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356877G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15235C>T	9.37:g.104356877G>A						GRIN3A_ENST00000361820.3_Intron	p.N112N	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	406	-		Acute lymphoblastic leukemia(62;0.0527)	109			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.336C>T	CCDS6758.1																																																																																				0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			33	68	0	0	0	1	0	33	68				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658498	72658498	+	RNA	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:72658498G>A	ENST00000425256.1	-	0	1413									GTF2I repeat domain containing 2 pseudogene 1																		tgatctcatcgattgcgatag	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72658498G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658498G>A								NR_002164.1						0	1413	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		24	94	0	0	0	1	0	24	94				
STXBP5L	9515	broad.mit.edu	37	3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	ENST00000273666.6	+	22	2642	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	791					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2371-2373)Gcc>Tcc		syntaxin binding protein 5-like							54.0	51.0	52.0					3																	121097685		1854	4101	5955	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097685G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2371G>T	3.37:g.121097685G>T	ENSP00000273666:p.Ala791Ser					STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2642	+			791					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2371G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680006	0.47886	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.28255	1.85;1.89;1.67;1.62	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	L	0.51422	1.61	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.005;0.006	T	0.11567	-1.0582	10	0.10111	T	0.7	-16.9812	17.7945	0.88565	0.0:0.0:1.0:0.0	.	767;791	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	791;767;767;791	ENSP00000273666:A791S;ENSP00000420019:A767S;ENSP00000419627:A767S;ENSP00000420666:A791S	ENSP00000273666:A791S	A	+	1	0	STXBP5L	122580375	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.182000	0.94881	2.514000	0.84764	0.585000	0.79938	GCC		0.388	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			15	29	1	0	4.7546e-09	1	4.80465e-09	15	29				
KERA	11081	broad.mit.edu	37	12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	ENST00000266719.3	-	2	755	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	170					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(508-510)Ctt>Att		keratocan							117.0	112.0	114.0					12																	91449551		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449551G>T	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.508C>A	12.37:g.91449551G>T	ENSP00000266719:p.Leu170Ile						p.L170I	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	755	-			170						Missense_Mutation	SNP	ENST00000266719.3	37	c.508C>A	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770112	0.69992	.	.	ENSG00000139330	ENST00000266719	T	0.57436	0.4	6.08	5.19	0.71726	.	0.056051	0.64402	D	0.000001	T	0.51941	0.1704	N	0.21282	0.65	0.51233	D	0.999914	D	0.55385	0.971	D	0.64506	0.926	T	0.48603	-0.9021	10	0.22706	T	0.39	-21.1588	8.2402	0.31656	0.0719:0.0:0.5833:0.3448	.	170	O60938	KERA_HUMAN	I	170	ENSP00000266719:L170I	ENSP00000266719:L170I	L	-	1	0	KERA	89973682	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.450000	0.52957	1.582000	0.49881	0.655000	0.94253	CTT		0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		42	100	1	0	2.77807e-22	1	2.86768e-22	42	100				
BMP3	651	broad.mit.edu	37	4	81967784	81967784	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:81967784C>T	ENST00000282701.2	+	2	1529	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	403					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGGAGCATGCCAGTTCCCCA	0.448																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1207-1209)tgC>tgT		bone morphogenetic protein 3							154.0	152.0	153.0					4																	81967784		2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967784C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1209C>T	4.37:g.81967784C>T							p.C403C	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1529	+			403					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.1209C>T	CCDS3588.1																																																																																				0.448	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			5	217	0	0	0	1	0	5	217				
ABLIM3	22885	broad.mit.edu	37	5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	ENST00000506113.1	+	14	1827	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000517451.1_5'Flank|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	449					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTACAAACGGCATGGTAT	0.572																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1345-1347)Cgg>Tgg		actin binding LIM protein family, member 3		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	129.0	117.0	121.0		1345	3.5	1.0	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABLIM3	NM_014945.2	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	449/684	148622095	3,13003	2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148622095C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1345C>T	5.37:g.148622095C>T	ENSP00000425394:p.Arg449Trp					ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W	p.R449W			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1827	+			449					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1345C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075570	0.76415	4.54E-4	1.16E-4	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.41	3.46	0.39613	.	0.472322	0.23894	N	0.043513	T	0.39989	0.1099	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.62491	0.903;0.73	T	0.40156	-0.9578	10	0.87932	D	0	.	14.3401	0.66619	0.3654:0.6346:0.0:0.0	.	354;449	O94929-3;O94929	.;ABLM3_HUMAN	W	354;449;449;416	ENSP00000315841:R354W;ENSP00000310309:R449W;ENSP00000425394:R449W;ENSP00000420855:R416W	ENSP00000310309:R449W	R	+	1	2	ABLIM3	148602288	0.999000	0.42202	0.976000	0.42696	0.975000	0.68041	1.653000	0.37323	1.354000	0.45846	0.591000	0.81541	CGG		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		12	130	0	0	0	1	0	12	130				
LMCD1	29995	broad.mit.edu	37	3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	ENST00000157600.3	+	4	918	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(685-687)aAc>aGc		LIM and cysteine-rich domains 1							37.0	27.0	31.0					3																	8590552		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8590552A>G	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.686A>G	3.37:g.8590552A>G	ENSP00000157600:p.Asn229Ser					LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S	p.N229S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	4	918	+			229					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.686A>G	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908257	0.33721	.	.	ENSG00000071282	ENST00000157600;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	T;T;T;T;T	0.77358	0.84;-1.09;0.84;0.83;-1.08	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.80154	0.4571	L	0.32530	0.975	0.49051	D	0.999745	D;B;D	0.67145	0.996;0.23;0.991	D;B;P	0.73380	0.98;0.032;0.787	T	0.75808	-0.3187	10	0.16896	T	0.51	-45.2784	13.231	0.59943	1.0:0.0:0.0:0.0	.	229;117;229	F5GX84;B4DEY6;Q9NZU5	.;.;LMCD1_HUMAN	S	229;229;156;117;186	ENSP00000157600:N229S;ENSP00000441100:N229S;ENSP00000396515:N156S;ENSP00000380542:N117S;ENSP00000411222:N186S	ENSP00000157600:N229S	N	+	2	0	LMCD1	8565552	1.000000	0.71417	0.989000	0.46669	0.029000	0.11900	6.837000	0.75354	2.147000	0.66899	0.533000	0.62120	AAC		0.612	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		16	30	0	0	0	1	0	16	30				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	48	0	0	0	1	0	3	48				
MED13	9969	broad.mit.edu	37	17	60111221	60111221	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	ENST00000397786.2	-	5	817	c.741G>A	c.(739-741)aaG>aaA	p.K247K	Y_RNA_ENST00000363972.1_RNA|MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	247					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGACATCTCCTTCAAGCAAC	0.383																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(739-741)aaG>aaA		mediator complex subunit 13							155.0	139.0	144.0					17																	60111221		1869	4107	5976	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60111221C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.741G>A	17.37:g.60111221C>T							p.K247K	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			5	817	-			247					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.741G>A	CCDS42366.1																																																																																				0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		6	55	0	0	0	1	0	6	55				
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	254						8	254	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	213						8	213	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_ENST00000331523.2_In_Frame_Del_p.G121del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.G121del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(361-366)gaa>g		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001651	inframe_deletion	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228912_74228914delCAC	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.362_364delGTG	6.37:g.74228912_74228914delCAC	ENSP00000339063:p.Gly121del		OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR	p.GE121del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			3	1353_1355	-			121					P04719|P04720|Q6IQ15	In_Frame_Del	DEL	ENST00000316292.9	37	c.362_364delGTG	CCDS4980.1																																																																																				0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		11	31						11	31	---	---	---	---
PTGDR2	11251	broad.mit.edu	37	11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		2	4						2	4	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccafs	p.P563fs	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1687-1689)ccfs		Rho guanine nucleotide exchange factor (GEF) 25							106.0	119.0	115.0					12																	58010623		2203	4300	6503	SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010623delA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1689delA	12.37:g.58010623delA	ENSP00000286494:p.Pro563fs					ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	p.P563fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			15	2149	+			563					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Del	DEL	ENST00000286494.4	37	c.1689delA	CCDS8947.1																																																																																				0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		8	952						8	952	---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89916851	89916854	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs555881011		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:89916851_89916854delTTTG	ENST00000529983.2	-	1	1729_1732	c.1473_1476delCAAA	c.(1471-1476)aacaaafs	p.NK491fs	POC1B-GALNT4_ENST00000548729.1_Frame_Shift_Del_p.NK488fs|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.NK319fs|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000313546.3_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	491	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACCTTATTTCTTTGTTTGAAGTAT	0.387																																						ENST00000548729.1																			0											c.(1462-1467)aafs																																						SO:0001589	frameshift_variant	0							g.chr12:89916851_89916854delTTTG	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1473_1476delCAAA	12.37:g.89916855_89916858delTTTG	ENSP00000436604:p.Asn491fs					POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Frame_Shift_Del_p.NK491fs|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Frame_Shift_Del_p.NK319fs|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	p.NK488fs	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1766_1769	-								B2R775|B4DMX6|O00208	Frame_Shift_Del	DEL	ENST00000529983.2	37	c.1464_1467delCAAA	CCDS53817.1																																																																																				0.387	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		16	26						16	26	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		7	394						7	394	---	---	---	---
CDR2	1039	broad.mit.edu	37	16	22448752	22448753	+	5'Flank	INS	-	-	GCGGCGGCG			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:22448752_22448753insGCGGCGGCG	ENST00000569045.1	-	0	0				RRN3P3_ENST00000551766.1_RNA			Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa							cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GTCTCGGCTGAGCGGCGGCGGC	0.733																																						ENST00000551766.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:22448752_22448753insGCGGCGGCG	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850			16.37:g.22448753_22448761dupGCGGCGGCG	Exception_encountered							NR_027460.1						0	283_284	-								A8K8A8|Q13977	RNA	INS	ENST00000569045.1	37																																																																																						0.733	CDR2-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000430087.1			2	4						2	4	---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54958199	54958200	+	5'Flank	DEL	CT	CT	-	rs541602247		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:54958199_54958200delCT	ENST00000326764.5	+	0	0				LENG8-AS1_ENST00000429922.1_RNA|LENG8-AS1_ENST00000448978.1_RNA|LENG8_ENST00000376514.2_5'Flank|LENG8-AS1_ENST00000416022.1_RNA	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ATGTTTTGTACTTAAGTACACA	0.371																																						ENST00000429922.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr19:54958199_54958200delCT	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548		19.37:g.54958199_54958200delCT	Exception_encountered					LENG8-AS1_ENST00000416022.1_RNA								0	504	-								B0VJY9|Q8IZ27|Q8NCX6	RNA	DEL	ENST00000326764.5	37		CCDS12894.1																																																																																				0.371	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		4	3						4	3	---	---	---	---
