#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DMPK	1760	broad.mit.edu	37	19	46278224	46278224	+	Silent	SNP	G	G	A	rs138445739		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr19:46278224G>A	ENST00000291270.4	-	9	1340	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	DMPK_ENST00000354227.5_Silent_p.Y400Y|DMPK_ENST00000458663.2_Silent_p.Y400Y|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Silent_p.Y410Y|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000447742.2_Silent_p.Y400Y|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000343373.4_Silent_p.Y415Y|DMPK_ENST00000595361.1_5'UTR|AC074212.6_ENST00000591530.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	405	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCATGCAGGAGTAGGAGTAGC	0.617																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdi.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1291-1293)taC>taT		Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.		G	,,,	1,4405	2.1+/-5.4	0,1,2202	87.0	59.0	69.0		1200,1200,1245,1215	3.4	1.0	19	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMPK	NM_001081560.1,NM_001081562.1,NM_001081563.1,NM_004409.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	400/625,400/626,415/640,405/630	46278224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46278224G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1215C>T	19.37:g.46278224G>A			Somatic				DMPK_uc010xxs.1_Silent_p.Y316Y|DMPK_uc002pdd.1_Silent_p.Y415Y|DMPK_uc002pde.1_Silent_p.Y410Y|DMPK_uc002pdg.1_Silent_p.Y400Y|DMPK_uc002pdf.1_Silent_p.Y405Y|DMPK_uc002pdh.1_Silent_p.Y400Y|DMPK_uc010xxt.1_Silent_p.Y400Y	p.Y431Y	NM_001081563	NP_001075032	WXS	Illumina GAIIx	Phase_I	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	9	1479	-		Ovarian(192;0.0308)|all_neural(266;0.112)	415					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1293C>T	CCDS12674.1																																																																																				0.617	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		3	70	0	0	0	1	0	3	70				
SLC15A1	6564	broad.mit.edu	37	13	99354751	99354751	+	Silent	SNP	T	T	C	rs550700409	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTTTCCCCTTTTTCTGGCT	0.284													T|||	6	0.00119808	0.0	0.0	5008	,	,		18498	0.0		0.0	False		,,,				2504	0.0061					uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1447-1449)aaA>aaG		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						61.0	68.0	65.0					13																	99354751		2201	4296	6497	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99354751T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1449A>G	13.37:g.99354751T>C			Somatic					p.K483K	NM_005073	NP_005064	WXS	Illumina GAIIx	Phase_I	P46059	S15A1_HUMAN			17	1526	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		483					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1449A>G	CCDS9489.1																																																																																				0.284	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		3	118	0	0	0	1	0	3	118				
TTLL5	23093	broad.mit.edu	37	14	76259282	76259282	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:76259282C>T	ENST00000298832.9	+	27	3215	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	TTLL5_ENST00000554510.1_Missense_Mutation_p.H513Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.H1019Y|TTLL5_ENST00000556893.1_Missense_Mutation_p.H555Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1004					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AAACAAGCATCATTCAGGAAT	0.378																																						uc010ask.2																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3055-3057)Cat>Tat		Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.							82.0	70.0	74.0					14																	76259282		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76259282C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3010C>T	14.37:g.76259282C>T	ENSP00000298832:p.His1004Tyr		Somatic				TTLL5_uc001xrx.3_Missense_Mutation_p.H1004Y|TTLL5_uc001xrz.3_Missense_Mutation_p.H579Y|TTLL5_uc001xsa.3_Missense_Mutation_p.H78Y	p.H1019Y	NM_015072	NP_055887	WXS	Illumina GAIIx	Phase_I	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	27	3330	+			1004					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3055C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760910	0.69763	.	.	ENSG00000119685	ENST00000418433;ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.23348	4.01;4.09;1.91;1.91	5.81	4.9	0.64082	.	0.821409	0.11256	N	0.583094	T	0.34658	0.0905	L	0.27053	0.805	0.23506	N	0.997537	D;D;D;P	0.63880	0.97;0.991;0.993;0.949	P;P;P;B	0.61477	0.572;0.889;0.84;0.368	T	0.27938	-1.0059	10	0.19147	T	0.46	.	14.6888	0.69068	0.0:0.8551:0.1449:0.0	.	1019;78;555;1004	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	Y	691;78;1019;1004;555;555;513	ENSP00000450713:H1019Y;ENSP00000298832:H1004Y;ENSP00000452524:H555Y;ENSP00000451946:H513Y	ENSP00000286653:H78Y	H	+	1	0	TTLL5	75329035	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	2.245000	0.43133	1.407000	0.46875	0.655000	0.94253	CAT		0.378	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		12	37	0	0	0	1	0	12	37				
PEX10	5192	broad.mit.edu	37	1	2341873	2341873	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:2341873C>G	ENST00000447513.2	-	2	198	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	PEX10_ENST00000507596.1_Missense_Mutation_p.E44Q|PEX10_ENST00000288774.3_Missense_Mutation_p.E44Q|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	44					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TTCCTCCACTCCAGCCACTTC	0.592																																					GBM(12;9 508 1649 13619)	uc001ajg.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(130-132)Gag>Cag		Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.							90.0	76.0	81.0					1																	2341873		2203	4300	6503	SO:0001583	missense	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding	g.chr1:2341873C>G	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.130G>C	1.37:g.2341873C>G	ENSP00000407922:p.Glu44Gln		Somatic				PEX10_uc001ajh.3_Missense_Mutation_p.E44Q	p.E44Q	NM_153818	NP_722540	WXS	Illumina GAIIx	Phase_I	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	1	199	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	44					B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	c.130G>C	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954828	0.18431	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.82255	-1.59;-1.59;-1.59	4.73	3.81	0.43845	Pex, N-terminal (1);	0.660425	0.15985	N	0.235088	T	0.72590	0.3479	L	0.28458	0.855	0.33033	D	0.530385	B;B	0.22146	0.065;0.012	B;B	0.21151	0.033;0.022	T	0.68588	-0.5369	10	0.14656	T	0.56	-0.3365	12.769	0.57410	0.0:0.6843:0.3157:0.0	.	44;44	O60683;O60683-2	PEX10_HUMAN;.	Q	44	ENSP00000288774:E44Q;ENSP00000407922:E44Q;ENSP00000424291:E44Q	ENSP00000288774:E44Q	E	-	1	0	PEX10	2331733	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.806000	0.27126	0.969000	0.38237	0.462000	0.41574	GAG		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		4	72	0	0	0	1	0	4	72				
TM9SF4	9777	broad.mit.edu	37	20	30753110	30753110	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr20:30753110G>A	ENST00000398022.2	+	18	2027	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	TM9SF4_ENST00000217315.5_Missense_Mutation_p.E581K	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	598						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGACATCGTGGAGTTCATCCC	0.562																																						uc002wxj.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1792-1794)Gag>Aag		Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.							282.0	197.0	226.0					20																	30753110		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30753110G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1792G>A	20.37:g.30753110G>A	ENSP00000381104:p.Glu598Lys		Somatic				TM9SF4_uc010zts.1_Missense_Mutation_p.E505K|TM9SF4_uc002wxk.2_Missense_Mutation_p.E581K	p.E598K	NM_014742	NP_055557	WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		17	2027	+			598					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1792G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180012	0.38511	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44083	0.93;0.93	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	N	0.21373	0.66	0.80722	D	1	B;P	0.44281	0.009;0.831	B;P	0.48425	0.03;0.577	T	0.07158	-1.0787	10	0.02654	T	1	-16.1477	17.7294	0.88373	0.0:0.0:1.0:0.0	.	505;598	B4DH88;Q92544	.;TM9S4_HUMAN	K	598;581	ENSP00000381104:E598K;ENSP00000217315:E581K	ENSP00000217315:E581K	E	+	1	0	TM9SF4	30216771	1.000000	0.71417	0.980000	0.43619	0.727000	0.41649	7.664000	0.83830	2.404000	0.81709	0.561000	0.74099	GAG		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		30	191	0	0	0	1	0	30	191				
MUC5B	727897	broad.mit.edu	37	11	1281040	1281040	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:1281040G>A	ENST00000529681.1	+	45	16826	c.16768G>A	c.(16768-16770)Gcc>Acc	p.A5590T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5593T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5590					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGTCCAGACCGCCTGCCTCAC	0.657																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16768-16770)Gcc>Acc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							65.0	77.0	73.0					11																	1281040		2108	4213	6321	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1281040G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16768G>A	11.37:g.1281040G>A	ENSP00000436812:p.Ala5590Thr		Somatic					p.A5590T	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	44	16827	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5590					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16768G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342618	0.11069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.65178	-0.14;-0.14;-0.14	4.25	1.26	0.21427	.	.	.	.	.	T	0.45216	0.1331	L	0.46885	1.475	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.34590	0.186;0.186	T	0.43653	-0.9378	9	0.87932	D	0	.	3.297	0.06970	0.2976:0.0:0.519:0.1834	.	5927;5593	A7Y9J9;E9PBJ0	.;.	T	5590;5593;5534;489;5302;135	ENSP00000436812:A5590T;ENSP00000415793:A5593T;ENSP00000434539:A135T	ENSP00000343037:A5534T	A	+	1	0	MUC5B	1237616	0.001000	0.12720	0.199000	0.23439	0.019000	0.09904	0.409000	0.21082	0.168000	0.19655	0.561000	0.74099	GCC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	119	0	0	0	1	0	10	119				
FAM120C	54954	broad.mit.edu	37	X	54209023	54209023	+	Missense_Mutation	SNP	G	G	T	rs144201658		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:54209023G>T	ENST00000375180.2	-	1	665	c.609C>A	c.(607-609)aaC>aaA	p.N203K	FAM120C_ENST00000477084.1_Missense_Mutation_p.N203K|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.N203K	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	203							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGTGCCCTTGTTGCCCACGT	0.706																																						uc004dsz.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(607-609)aaC>aaA		Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.			LYS/ASN,LYS/ASN	1,3829		0,1,1631,566	31.0	24.0	26.0		609,609	2.7	1.0	X	dbSNP_134	26	0,6714		0,0,2424,1866	no	missense,missense	FAM120C	NM_017848.4,NM_198456.1	94,94	0,1,4055,2432	TT,TG,GG,G		0.0,0.0261,0.0095	benign,benign	203/1097,203/239	54209023	1,10543	2198	4290	6488	SO:0001583	missense	54954							g.chrX:54209023G>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.609C>A	X.37:g.54209023G>T	ENSP00000364324:p.Asn203Lys		Somatic				FAM120C_uc011moh.2_Missense_Mutation_p.N203K|FAM120C_uc004dta.2_Missense_Mutation_p.N203K	p.N203K	NM_017848	NP_060318	WXS	Illumina GAIIx	Phase_I	Q9NX05	F120C_HUMAN			0	692	-			203					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.609C>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	14.76	2.632612	0.47049	2.61E-4	0.0	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.48201	0.82;0.82;0.82	3.62	2.66	0.31614	.	0.510568	0.20852	N	0.084506	T	0.32585	0.0834	L	0.43152	1.355	0.35836	D	0.825642	P;B;B	0.34462	0.454;0.005;0.292	B;B;B	0.32805	0.137;0.008;0.153	T	0.27938	-1.0059	10	0.22109	T	0.4	.	6.0588	0.19826	0.1211:0.1937:0.6852:0.0	.	203;203;203	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	K	203	ENSP00000364324:N203K;ENSP00000329896:N203K;ENSP00000420718:N203K	ENSP00000329896:N203K	N	-	3	2	FAM120C	54225748	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.087000	0.57671	1.811000	0.52892	0.513000	0.50165	AAC		0.706	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		20	39	0	0	0	1	0	20	39				
TEX30	93081	broad.mit.edu	37	13	103419661	103419661	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:103419661G>A	ENST00000376032.4	-	5	655	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	TEX30_ENST00000376019.1_Silent_p.L115L|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Silent_p.L115L|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376027.1_Intron	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	156										lung(1)|urinary_tract(1)	2						GACACAAACAGTACAGGCTCT	0.403																																						uc001vpo.3																			0				lung(1)|urinary_tract(1)	2						c.(466-468)Ctg>Ttg		Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.							98.0	95.0	96.0					13																	103419661		2203	4300	6503	SO:0001819	synonymous_variant	93081							g.chr13:103419661G>A	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.466C>T	13.37:g.103419661G>A			Somatic				TEX30_uc001vpn.3_Silent_p.L115L	p.L156L	NM_138779	NP_620134	WXS	Illumina GAIIx	Phase_I	Q5JUR7	CM027_HUMAN			4	644	-			156					Q5JUR8|Q96KZ8	Silent	SNP	ENST00000376032.4	37	c.466C>T	CCDS9503.2																																																																																				0.403	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		3	88	0	0	0	1	0	3	88				
A1CF	29974	broad.mit.edu	37	10	52569681	52569681	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:52569681C>T	ENST00000373993.1	-	10	1650	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T	A1CF_ENST00000395489.2_Missense_Mutation_p.A529T|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'Flank|A1CF_ENST00000373997.3_Missense_Mutation_p.A528T|A1CF_ENST00000395495.1_Missense_Mutation_p.A481T|A1CF_ENST00000282641.2_Missense_Mutation_p.A536T|A1CF_ENST00000374001.2_Missense_Mutation_p.A528T|A1CF_ENST00000373995.3_Missense_Mutation_p.A536T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	536					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						gcagcagcagcagtagcCATG	0.527																																						uc010qho.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1630-1632)Gct>Act		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 5, mRNA.							100.0	90.0	93.0					10																	52569681		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569681C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1606G>A	10.37:g.52569681C>T	ENSP00000363105:p.Ala536Thr		Somatic				A1CF_uc010qhn.2_Missense_Mutation_p.A536T|A1CF_uc009xov.3_Missense_Mutation_p.A528T|A1CF_uc001jjj.3_Missense_Mutation_p.A536T|A1CF_uc001jji.3_Missense_Mutation_p.A528T|A1CF_uc001jjh.3_Missense_Mutation_p.A536T	p.A544T	NM_001198819	NP_001185748	WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			13	2030	-			536					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1630G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276234	0.23307	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.12465	2.75;2.81;2.75;2.8;2.81;2.68;2.81	5.58	2.56	0.30785	.	0.602110	0.13673	N	0.370702	T	0.10294	0.0252	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.34477	-0.9827	10	0.21014	T	0.42	-2.5634	6.7666	0.23571	0.0:0.6871:0.1471:0.1659	.	529;536;528;536	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	528;536;528;536;536;481;511;529	ENSP00000363113:A528T;ENSP00000363105:A536T;ENSP00000363109:A528T;ENSP00000363107:A536T;ENSP00000282641:A536T;ENSP00000378873:A481T;ENSP00000378868:A529T	ENSP00000282641:A536T	A	-	1	0	A1CF	52239687	0.004000	0.15560	0.006000	0.13384	0.061000	0.15899	0.157000	0.16402	0.714000	0.32081	0.655000	0.94253	GCT		0.527	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		4	105	0	0	0	1	0	4	105				
GPT	2875	broad.mit.edu	37	8	145732033	145732033	+	Silent	SNP	C	C	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr8:145732033C>T	ENST00000528431.1	+	10	1438	c.1281C>T	c.(1279-1281)cgC>cgT	p.R427R	GPT_ENST00000394955.2_Silent_p.R427R|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	427					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CGGTGGAGCGCGCTCAGGTCA	0.731																																						uc003zdh.4																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1279-1281)cgC>cgT		Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						4.0	4.0	4.0					8																	145732033		1886	3671	5557	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732033C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1281C>T	8.37:g.145732033C>T			Somatic				MFSD3_uc003zdi.1_5'Flank	p.R427R	NM_005309	NP_005300	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		8	1504	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		427					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.1281C>T	CCDS6430.1																																																																																				0.731	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			7	9	0	0	0	1	0	7	9				
BRD3	8019	broad.mit.edu	37	9	136915622	136915622	+	Silent	SNP	G	G	A	rs142203601	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:136915622G>A	ENST00000303407.7	-	5	773	c.588C>T	c.(586-588)atC>atT	p.I196I	BRD3_ENST00000371834.2_Silent_p.I196I|BRD3_ENST00000357885.2_Silent_p.I196I	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	196					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGTGGCAGCGATGACGGGCG	0.662			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.3				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(586-588)atC>atT		Homo sapiens bromodomain containing 3 (BRD3), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	72.0	83.0	79.0		588	-1.7	1.0	9	dbSNP_134	79	0,8598		0,0,4299	no	coding-synonymous	BRD3	NM_007371.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		196/727	136915622	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136915622G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.588C>T	9.37:g.136915622G>A			Somatic				BRD3_uc004cex.2_Silent_p.I196I	p.I196I	NM_007371	NP_031397	WXS	Illumina GAIIx	Phase_I	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	4	776	-			196					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.588C>T	CCDS6980.1																																																																																				0.662	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		15	214	0	0	0	1	0	15	214				
IFNAR2	3455	broad.mit.edu	37	21	34635187	34635187	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr21:34635187G>C	ENST00000342136.4	+	9	1256	c.930G>C	c.(928-930)aaG>aaC	p.K310N	IFNAR2_ENST00000342101.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.K310N|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	310					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TCAACAGAAAGAAGAAAGTGT	0.428																																						uc002yrd.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(928-930)aaG>aaC		Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						107.0	113.0	111.0					21																	34635187		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635187G>C		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.930G>C	21.37:g.34635187G>C	ENSP00000343957:p.Lys310Asn		Somatic				IFNAR2_uc002yre.3_Missense_Mutation_p.K310N|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	p.K310N	NM_207585	NP_997468	WXS	Illumina GAIIx	Phase_I	P48551	INAR2_HUMAN			8	1258	+			310					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.930G>C	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549430	0.65311	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.51574	0.7;0.7	4.94	4.06	0.47325	.	1.234140	0.05334	N	0.528790	T	0.64659	0.2618	L	0.54323	1.7	0.40637	D	0.981911	D	0.89917	1.0	D	0.68353	0.957	T	0.51012	-0.8759	10	0.72032	D	0.01	.	9.3445	0.38100	0.0974:0.0:0.9026:0.0	.	310	P48551	INAR2_HUMAN	N	310	ENSP00000371676:K310N;ENSP00000343957:K310N	ENSP00000343957:K310N	K	+	3	2	IFNAR2	33557057	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	2.905000	0.48727	1.445000	0.47624	-0.251000	0.11542	AAG		0.428	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			18	127	0	0	0	1	0	18	127				
MCMBP	79892	broad.mit.edu	37	10	121586462	121586462	+	IGR	SNP	T	T	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:121586462T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.S857P|INPP5F_ENST00000369080.3_Missense_Mutation_p.S247P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGATAATGACTCATACCACTC	0.408																																						uc001leo.3																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2569-2571)Tca>Cca		Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.							120.0	110.0	113.0					10																	121586462		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586462T>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586462T>C			Somatic				INPP5F_uc001lep.3_Missense_Mutation_p.S247P	p.S857P	NM_014937	NP_055752	WXS	Illumina GAIIx	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	19	2785	+		Lung NSC(174;0.109)|all_lung(145;0.142)	857					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2569T>C	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325545	0.81580	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.55052	0.85;0.54	5.92	5.92	0.95590	.	0.288604	0.34802	N	0.003663	T	0.63046	0.2478	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.60934	-0.7164	10	0.35671	T	0.21	-12.6761	16.3631	0.83280	0.0:0.0:0.0:1.0	.	247;857	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	857;247	ENSP00000354519:S857P;ENSP00000358076:S247P	ENSP00000354519:S857P	S	+	1	0	INPP5F	121576452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.603000	0.82811	2.266000	0.75297	0.533000	0.62120	TCA		0.408	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		47	78	0	0	0	1	0	47	78				
RNF216	54476	broad.mit.edu	37	7	5662664	5662664	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:5662664G>T	ENST00000425013.2	-	17	2652	c.2428C>A	c.(2428-2430)Cct>Act	p.P810T	RNF216_ENST00000389902.3_Missense_Mutation_p.P867T|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	810	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CGCACGGGAGGCAGGGGGAAG	0.647																																						uc003sox.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2599-2601)Cct>Act		Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.							72.0	77.0	75.0					7																	5662664		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662664G>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2428C>A	7.37:g.5662664G>T	ENSP00000404602:p.Pro810Thr		Somatic				RNF216_uc010ksz.2_Missense_Mutation_p.P432T|RNF216_uc010kta.2_Missense_Mutation_p.P432T|RNF216_uc003soy.2_Missense_Mutation_p.P810T|RNF216_uc011jwj.2_Missense_Mutation_p.P432T	p.P867T	NM_207111	NP_996994	WXS	Illumina GAIIx	Phase_I	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	16	2858	-		Ovarian(82;0.07)	810					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2599C>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265505	0.59431	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.54479	0.59;0.57	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.50333	1.59	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.71656	0.951;0.974	T	0.70022	-0.4986	10	0.66056	D	0.02	-11.8033	17.7162	0.88337	0.0:0.0:1.0:0.0	.	810;867	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	T	810;867;622	ENSP00000404602:P810T;ENSP00000374552:P867T	ENSP00000374552:P867T	P	-	1	0	RNF216	5629190	1.000000	0.71417	0.995000	0.50966	0.356000	0.29392	5.002000	0.63952	2.488000	0.83962	0.561000	0.74099	CCT		0.647	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		54	110	0	0	0	1	0	54	110				
PCDHA8	56140	broad.mit.edu	37	5	140222759	140222759	+	Missense_Mutation	SNP	C	C	G	rs369930708		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr5:140222759C>G	ENST00000531613.1	+	1	1853	c.1853C>G	c.(1852-1854)cCt>cGt	p.P618R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618R|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCAGCCCTCGCATCCCG	0.677																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1852-1854)cCt>cGt		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							95.0	94.0	94.0					5																	140222759		2197	4272	6469	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222759C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1853C>G	5.37:g.140222759C>G	ENSP00000434655:p.Pro618Arg		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P618R	p.P618R	NM_018911	NP_061734	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1853	+			629			Cadherin 6.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1853C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568604	0.03910	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.21191	2.02;2.02	2.93	-1.94	0.07571	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12263	0.0298	L	0.28458	0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31888	-0.9927	9	0.66056	D	0.02	.	2.8715	0.05618	0.2391:0.3379:0.3263:0.0968	.	618;618	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	R	618	ENSP00000434655:P618R;ENSP00000367363:P618R	ENSP00000367363:P618R	P	+	2	0	PCDHA8	140202943	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	0.878000	0.28126	-0.202000	0.10268	0.313000	0.20887	CCT		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		8	223	0	0	0	1	0	8	223				
INTS2	57508	broad.mit.edu	37	17	59989322	59989322	+	Silent	SNP	G	G	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr17:59989322G>C	ENST00000444766.3	-	6	858	c.783C>G	c.(781-783)gcC>gcG	p.A261A	INTS2_ENST00000251334.6_Silent_p.A253A	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	261					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGACCTTGAGGGCCTGAGAAG	0.438																																						uc002izn.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(781-783)gcC>gcG		Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.							162.0	160.0	161.0					17																	59989322		1910	4125	6035	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59989322G>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.783C>G	17.37:g.59989322G>C			Somatic				INTS2_uc002izm.3_Silent_p.A253A	p.A261A	NM_020748	NP_065799	WXS	Illumina GAIIx	Phase_I	Q9H0H0	INT2_HUMAN			5	859	-			261					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.783C>G	CCDS45750.1																																																																																				0.438	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		9	120	0	0	0	1	0	9	120				
KLF6	1316	broad.mit.edu	37	10	3824179	3824179	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:3824179G>A	ENST00000497571.1	-	2	590	c.330C>T	c.(328-330)agC>agT	p.S110S	KLF6_ENST00000542957.1_Silent_p.S110S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Silent_p.S110S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	110					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CAGAGGATTCGCTGCTGACAT	0.517											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(328-330)agC>agT		Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.							169.0	182.0	178.0					10																	3824179		2203	4300	6503	SO:0001819	synonymous_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824179G>A	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.330C>T	10.37:g.3824179G>A			Somatic	OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.2_Silent_p.S110S|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Silent_p.S110S|KLF6_uc001ihb.2_Silent_p.S110S	p.S110S	NM_001300	NP_001291	WXS	Illumina GAIIx	Phase_I	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	1	597	-			110					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	ENST00000497571.1	37	c.330C>T	CCDS7060.1																																																																																				0.517	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			12	298	0	0	0	1	0	12	298				
SETBP1	26040	broad.mit.edu	37	18	42530643	42530643	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:42530643A>T	ENST00000282030.5	+	4	1634	c.1338A>T	c.(1336-1338)gaA>gaT	p.E446D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	446						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)		TGAGCAGTGAAGTAGTTAACA	0.453									Schinzel-Giedion syndrome																													uc010dni.3																			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.(1336-1338)gaA>gaT		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							85.0	87.0	87.0					18																	42530643		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530643A>T	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.1338A>T	18.37:g.42530643A>T	ENSP00000282030:p.Glu446Asp		Somatic					p.E446D	NM_015559	NP_056374	WXS	Illumina GAIIx	Phase_I	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	3	1634	+			446					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1338A>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	8.178	0.793112	0.16327	.	.	ENSG00000152217	ENST00000282030	T	0.69040	-0.37	6.08	3.56	0.40772	.	0.159699	0.56097	N	0.000040	T	0.50103	0.1596	L	0.29908	0.895	0.26631	N	0.972476	B	0.10296	0.003	B	0.09377	0.004	T	0.34750	-0.9816	10	0.29301	T	0.29	.	8.4133	0.32657	0.6896:0.2458:0.0646:0.0	.	446	Q9Y6X0	SETBP_HUMAN	D	446	ENSP00000282030:E446D	ENSP00000282030:E446D	E	+	3	2	SETBP1	40784641	1.000000	0.71417	0.992000	0.48379	0.439000	0.31926	1.631000	0.37092	0.467000	0.27218	0.533000	0.62120	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		6	98	0	0	0	1	0	6	98				
TTN	7273	broad.mit.edu	37	2	179579858	179579858	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr2:179579858G>A	ENST00000591111.1	-	88	25328	c.25104C>T	c.(25102-25104)agC>agT	p.S8368S	TTN_ENST00000589042.1_Silent_p.S8685S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12542	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTTGCCGCTCCTAAGTT	0.443																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22321-22323)agC>agT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							318.0	300.0	306.0					2																	179579858		1923	4120	6043	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579858G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25104C>T	2.37:g.179579858G>A			Somatic				TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S4102S	p.S7441S	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		86	22548	-			8368	S -> N (in Ref. 1; CAA62189).		Ig-like 56.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.22323C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	290	0	0	0	1	0	8	290				
ABHD4	63874	broad.mit.edu	37	14	23075393	23075393	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:23075393G>C	ENST00000428304.2	+	5	776	c.706G>C	c.(706-708)Gat>Cat	p.D236H	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	236					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTTTGAAGATGATACCATATC	0.517																																						uc001wgm.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(706-708)Gat>Cat		Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.							60.0	56.0	58.0					14																	23075393		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23075393G>C	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.706G>C	14.37:g.23075393G>C	ENSP00000414558:p.Asp236His		Somatic				ABHD4_uc010tna.1_Missense_Mutation_p.M262I|ABHD4_uc010tnb.2_Non-coding_Transcript	p.D236H	NM_022060	NP_071343	WXS	Illumina GAIIx	Phase_I	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	4	775	+	all_cancers(95;5.49e-05)		236					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.706G>C	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338821	0.81911	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	T;T	0.68765	-0.35;-0.35	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.66439	2.03	0.58432	D	0.999997	D	0.58620	0.983	D	0.63488	0.915	T	0.79850	-0.1629	10	0.52906	T	0.07	-14.1716	16.7765	0.85552	0.0:0.0:1.0:0.0	.	236	Q8TB40	ABHD4_HUMAN	H	236;170	ENSP00000414558:D236H;ENSP00000216327:D170H	ENSP00000216327:D170H	D	+	1	0	ABHD4	22145233	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.778000	0.55371	2.551000	0.86045	0.650000	0.86243	GAT		0.517	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			3	28	0	0	0	1	0	3	28				
KLHL14	57565	broad.mit.edu	37	18	30349967	30349967	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:30349967G>A	ENST00000359358.4	-	2	1026	c.588C>T	c.(586-588)caC>caT	p.H196H	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.H196H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	196						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCTCCAGGCCGTGCAGCGCGG	0.612																																						uc002kxm.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(586-588)caC>caT		Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.							126.0	101.0	110.0					18																	30349967		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349967G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.588C>T	18.37:g.30349967G>A			Somatic					p.H196H	NM_020805	NP_065856	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			1	976	-			196					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.588C>T	CCDS32813.1																																																																																				0.612	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	158	0	0	0	1	0	4	158				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	52	0	0	0	1	0	27	52				
USP10	9100	broad.mit.edu	37	16	84792342	84792342	+	Missense_Mutation	SNP	C	C	G	rs558711355		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr16:84792342C>G	ENST00000219473.7	+	5	1326	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V	USP10_ENST00000570191.1_Missense_Mutation_p.L409V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	405					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAATGTAACCCTAATCCATAA	0.438																																						uc010voe.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1225-1227)Cta>Gta		Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.							154.0	147.0	149.0					16																	84792342		1918	4112	6030	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84792342C>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1213C>G	16.37:g.84792342C>G	ENSP00000219473:p.Leu405Val		Somatic				USP10_uc002fii.3_Missense_Mutation_p.L405V|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_Intron	p.L409V	NM_005153	NP_005144	WXS	Illumina GAIIx	Phase_I	Q14694	UBP10_HUMAN			5	1476	+			405					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1225C>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414885	0.62511	.	.	ENSG00000103194	ENST00000219473	T	0.07688	3.17	5.48	4.49	0.54785	.	0.424945	0.23585	N	0.046618	T	0.18923	0.0454	L	0.59436	1.845	0.54753	D	0.999989	D;P	0.57571	0.98;0.64	P;P	0.58970	0.849;0.517	T	0.02781	-1.1111	10	0.22706	T	0.39	-11.2382	12.7228	0.57152	0.0:0.916:0.0:0.084	.	409;405	Q14694-3;Q14694	.;UBP10_HUMAN	V	405	ENSP00000219473:L405V	ENSP00000219473:L405V	L	+	1	2	USP10	83349843	1.000000	0.71417	0.986000	0.45419	0.940000	0.58332	2.315000	0.43752	1.353000	0.45828	-0.355000	0.07637	CTA		0.438	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			5	137	0	0	0	1	0	5	137				
HHLA2	11148	broad.mit.edu	37	3	108076828	108076828	+	Missense_Mutation	SNP	C	C	G	rs369237811		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr3:108076828C>G	ENST00000357759.5	+	6	1237	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	HHLA2_ENST00000467562.1_Missense_Mutation_p.L211V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L275V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L275V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L275V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	275	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGCTTACTATCTGAGCTCCTC	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0					uc003dwy.4																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(823-825)Ctg>Gtg		Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.		C	VAL/LEU	1,3705		0,1,1852	147.0	144.0	145.0		823	-3.6	0.0	3		145	0,8200		0,0,4100	no	missense	HHLA2	NM_007072.2	32	0,1,5952	GG,GC,CC		0.0,0.027,0.0084	possibly-damaging	275/415	108076828	1,11905	1853	4100	5953	SO:0001583	missense	11148					integral to membrane		g.chr3:108076828C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.823C>G	3.37:g.108076828C>G	ENSP00000350402:p.Leu275Val		Somatic				HHLA2_uc011bhl.2_Missense_Mutation_p.L211V|HHLA2_uc010hpu.3_Missense_Mutation_p.L275V|HHLA2_uc003dwz.3_Missense_Mutation_p.L275V	p.L275V	NM_007072	NP_009003	WXS	Illumina GAIIx	Phase_I	Q9UM44	HHLA2_HUMAN			5	990	+			275			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.823C>G	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.985|8.985	0.976363|0.976363	0.18736|0.18736	2.7E-4|2.7E-4	0.0|0.0	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17;-0.17|.	4.92|4.92	-3.64|-3.64	0.04515|0.04515	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	2.299950|.	0.02738|.	N|.	0.115910|.	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39862|.	0.692;0.692;0.692|.	B;B;B|.	0.42692|.	0.395;0.22;0.395|.	T|T	0.27226|0.27226	-1.0080|-1.0080	10|5	0.15066|.	T|.	0.55|.	-6.7831|-6.7831	0.4568|0.4568	0.00510|0.00510	0.2837:0.2068:0.1317:0.3778|0.2837:0.2068:0.1317:0.3778	.|.	211;275;275|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	V|C	275;211;275;275;275|177	ENSP00000418284:L275V;ENSP00000418345:L211V;ENSP00000350402:L275V;ENSP00000419207:L275V;ENSP00000417856:L275V|.	ENSP00000350402:L275V|.	L|S	+|+	1|2	2|0	HHLA2|HHLA2	109559518|109559518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	-1.506000|-1.506000	0.02271|0.02271	-0.341000|-0.341000	0.08376|0.08376	-0.142000|-0.142000	0.14014|0.14014	CTG|TCT		0.373	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		18	103	0	0	0	1	0	18	103				
SERPINE3	647174	broad.mit.edu	37	13	51915229	51915229	+	Start_Codon_SNP	SNP	T	T	G			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:51915229T>G	ENST00000521255.1	+	1	62	c.2T>G	c.(1-3)aTg>aGg	p.M1R	SERPINE3_ENST00000524365.1_Start_Codon_SNP_p.M1R|SERPINE3_ENST00000400389.4_Start_Codon_SNP_p.M1R	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	1					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CCAGCCTCCATGCCGCCTTTC	0.557																																						uc001vfh.2																			0				ovary(2)	2						c.(1-3)aTg>aGg		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.							97.0	99.0	99.0					13																	51915229		2092	4222	6314	SO:0001582	initiator_codon_variant	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915229T>G	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.2T>G	13.37:g.51915229T>G	ENSP00000428316:p.Met1Arg		Somatic				SERPINE3_uc010tgp.2_Missense_Mutation_p.M1R	p.M1R	NM_001101320	NP_001094790	WXS	Illumina GAIIx	Phase_I	A8MV23	SERP3_HUMAN			0	62	+			1					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.2T>G	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336480	0.11013	.	.	ENSG00000253309	ENST00000524365;ENST00000419898;ENST00000521255;ENST00000400389	D;D;D	0.84800	-1.84;-1.9;-1.84	4.47	3.26	0.37387	Serpin domain (1);	1.183960	0.06604	U	0.754399	T	0.82075	0.4958	.	.	.	0.80722	D	1	B;B	0.17667	0.023;0.014	B;B	0.19391	0.025;0.011	T	0.69694	-0.5076	9	0.87932	D	0	.	10.3995	0.44220	0.0:0.0:0.1648:0.8352	.	1;1	A8MV23-2;A8MV23	.;SERP3_HUMAN	R	1	ENSP00000430755:M1R;ENSP00000428316:M1R;ENSP00000441468:M1R	ENSP00000441468:M1R	M	+	2	0	SERPINE3	50813230	1.000000	0.71417	0.947000	0.38551	0.439000	0.31926	2.072000	0.41510	0.727000	0.32360	0.533000	0.62120	ATG		0.557	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320	Missense_Mutation	33	60	0	0	0	1	0	33	60				
PRDM10	56980	broad.mit.edu	37	11	129812425	129812425	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:129812425G>A	ENST00000360871.3	-	7	1093	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	PRDM10_ENST00000526082.1_Missense_Mutation_p.R202W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R262W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R202W|PRDM10_ENST00000358825.5_Missense_Mutation_p.R288W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R202W	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGGCTGGCCGTACAAACATC	0.453																																						uc001qfm.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(862-864)Cgg>Tgg		Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.							153.0	146.0	148.0					11																	129812425		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812425G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.862C>T	11.37:g.129812425G>A	ENSP00000354118:p.Arg288Trp		Somatic				PRDM10_uc001qfj.3_Missense_Mutation_p.R202W|PRDM10_uc001qfk.3_Missense_Mutation_p.R202W|PRDM10_uc001qfl.3_Missense_Mutation_p.R202W|PRDM10_uc010sbx.2_Missense_Mutation_p.R202W|PRDM10_uc001qfn.3_Missense_Mutation_p.R288W|PRDM10_uc009zct.1_Missense_Mutation_p.R320W	p.R288W	NM_020228	NP_064613	WXS	Illumina GAIIx	Phase_I	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	6	1094	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	288			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.862C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871275	0.72065	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	D;D;D;D;D;D;T	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;2.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78344	2.41	0.54753	D	0.999987	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.99;0.999;0.996;0.99;0.996;0.993;0.996	D	0.93136	0.6537	10	0.87932	D	0	-21.7972	19.5216	0.95187	0.0:0.0:1.0:0.0	.	202;288;288;288;202;202;202	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	W	288;202;288;202;262;202;5	ENSP00000351686:R288W;ENSP00000302669:R202W;ENSP00000354118:R288W;ENSP00000398431:R202W;ENSP00000431262:R262W;ENSP00000432237:R202W;ENSP00000435940:R5W	ENSP00000302669:R202W	R	-	1	2	PRDM10	129317635	1.000000	0.71417	0.773000	0.31616	0.892000	0.51952	5.874000	0.69652	2.700000	0.92200	0.561000	0.74099	CGG		0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	120	0	0	0	1	0	4	120				
TAS1R2	80834	broad.mit.edu	37	1	19181248	19181248	+	Missense_Mutation	SNP	G	G	A	rs577863777		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:19181248G>A	ENST00000375371.3	-	3	737	c.716C>T	c.(715-717)aCg>aTg	p.T239M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	239					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTGGGCAGCGTCTCCTGGAA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.001					uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(715-717)aCg>aTg		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						57.0	51.0	53.0					1																	19181248		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181248G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.716C>T	1.37:g.19181248G>A	ENSP00000364520:p.Thr239Met		Somatic					p.T239M	NM_152232	NP_689418	WXS	Illumina GAIIx	Phase_I	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	717	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	239					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.716C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513528	0.27123	.	.	ENSG00000179002	ENST00000375371	D	0.86164	-2.08	4.99	0.569	0.17340	Extracellular ligand-binding receptor (1);	3.773490	0.00873	N	0.002056	D	0.88273	0.6392	L	0.33668	1.02	0.09310	N	1	D	0.65815	0.995	P	0.60886	0.88	T	0.73892	-0.3839	10	0.41790	T	0.15	.	6.7382	0.23421	0.6261:0.0:0.3739:0.0	.	239	Q8TE23	TS1R2_HUMAN	M	239	ENSP00000364520:T239M	ENSP00000364520:T239M	T	-	2	0	TAS1R2	19053835	0.036000	0.19791	0.119000	0.21687	0.265000	0.26407	1.116000	0.31221	-0.072000	0.12864	-0.258000	0.10820	ACG		0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			12	15	0	0	0	1	0	12	15				
ZNF41	7592	broad.mit.edu	37	X	47308077	47308077	+	Silent	SNP	A	A	G			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:47308077A>G	ENST00000377065.4	-	5	1731	c.1092T>C	c.(1090-1092)ttT>ttC	p.F364F	ZNF41_ENST00000313116.7_Silent_p.F364F|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.F374F	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATCTCTGGAAAAAGGCTTTTC	0.403																																						uc004dhs.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1216-1218)ttT>ttC		Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.							53.0	52.0	52.0					X																	47308077		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308077A>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1092T>C	X.37:g.47308077A>G			Somatic				ZNF41_uc004dhu.4_Silent_p.F398F|ZNF41_uc004dht.4_Silent_p.F278F|ZNF41_uc004dhv.4_Silent_p.F374F|ZNF41_uc004dhw.4_Silent_p.F366F|ZNF41_uc004dhy.4_Silent_p.F364F|ZNF41_uc004dhx.4_Silent_p.F364F|ZNF41_uc011mlm.2_Silent_p.F278F	p.F406F	NM_153380	NP_700359	WXS	Illumina GAIIx	Phase_I	P51814	ZNF41_HUMAN			3	1285	-		all_lung(315;0.000129)	406					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1218T>C	CCDS14279.1																																																																																				0.403	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		23	44	0	0	0	1	0	23	44				
ZAN	7455	broad.mit.edu	37	7	100377342	100377342	+	RNA	DEL	C	C	-			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:100377342delC	ENST00000348028.3	+	0	6756				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_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)				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)			GGGGCTCAAGCCCCCACTCTG	0.627																																						uc003uwj.3																			0				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						c.(6589-6591)cccfs		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							11.0	13.0	13.0					7																	100377342		1896	4077	5973			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377342delC	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.100377342delC			Somatic				ZAN_uc003uwk.3_Frame_Shift_Del_p.P2197fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron	p.P2197fs	NM_003386	NP_003377	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		35	6754	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2198					A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37	c.6589delC																																																																																					0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
ERMP1	79956	broad.mit.edu	37	9	5832860	5832861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:5832860_5832861insC	ENST00000339450.5	-	1	256_257	c.167_168insG	c.(166-168)ggtfs	p.G56fs	ERMP1_ENST00000214893.5_5'Flank|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	56						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CGCCGCCGCTACCCCCGGGGCT	0.787																																						uc003zjm.1																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(166-168)ggtfs		Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.																																				SO:0001589	frameshift_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5832860_5832861insC	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.168dupG	9.37:g.5832865_5832865dupC	ENSP00000340427:p.Gly56fs		Somatic				ERMP1_uc022bdc.1_5'Flank|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Frame_Shift_Ins_p.G56fs	p.G56fs	NM_024896	NP_079172	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	0	221_222	-		Acute lymphoblastic leukemia(23;0.158)	56					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Frame_Shift_Ins	INS	ENST00000339450.5	37	c.167_168insG	CCDS34983.1																																																																																				0.787	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		2	4						2	4	---	---	---	---
MARK2	2011	broad.mit.edu	37	11	63606995	63606995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:63606995delC	ENST00000508192.1	+	1	519	c.17delC	c.(16-18)accfs	p.T6fs	MARK2_ENST00000402010.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T6fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T6fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377810.3_5'UTR|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T6fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T6fs					MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCGCTCGGACCCCCCTACCC	0.692																																						uc001nxw.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(16-18)accfs		Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.							20.0	26.0	24.0					11																	63606995		1770	3868	5638	SO:0001589	frameshift_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63606995delC	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000508192.1:c.17delC	11.37:g.63606995delC	ENSP00000425765:p.Thr6fs		Somatic				MARK2_uc001nxv.4_Frame_Shift_Del_p.T6fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.T6fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.T6fs	p.T6fs	NM_001039469	NP_001034558	WXS	Illumina GAIIx	Phase_I	Q7KZI7	MARK2_HUMAN			0	596	+			6						Frame_Shift_Del	DEL	ENST00000508192.1	37	c.17delC	CCDS8051.2																																																																																				0.692	MARK2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360860.1	NM_017490		2	4						2	4	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36212112	36212113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr19:36212112_36212113insC	ENST00000222270.7	+	3	1863_1864	c.1863_1864insC	c.(1864-1866)cccfs	p.P622fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.P622fs|KMT2B_ENST00000341701.1_Intron	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	622	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGccccctcctcccccagcccc	0.673																																						uc021usv.1										"""N, F, Mis"""							"""medulloblastoma, renal"""		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(1861-1866)cctcccfs		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36212112_36212113insC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1868dupC	19.37:g.36212117_36212117dupC	ENSP00000222270:p.Pro622fs	HNSCC(34;0.089)	Somatic				MLL2_uc021usu.1_5'UTR	p.P621fs	NM_014727	NP_055542	WXS	Illumina GAIIx	Phase_I	O14686	MLL2_HUMAN			2	1863_1864	+			746			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	c.1863_1864insC	CCDS46055.1																																																																																				0.673	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	4						4	4	---	---	---	---
