#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CMTM3	123920	broad.mit.edu	37	16	66643846	66643846	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr16:66643846G>A	ENST00000424011.2	+	5	986	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	CMTM3_ENST00000566121.1_Missense_Mutation_p.V68M|CMTM3_ENST00000568477.1_Missense_Mutation_p.V68M|CMTM3_ENST00000564060.1_Missense_Mutation_p.V122M|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000562707.1_Missense_Mutation_p.V154M|CMTM3_ENST00000460097.1_Missense_Mutation_p.V68M|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000361909.4_Missense_Mutation_p.V154M|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000565003.1_Missense_Mutation_p.V68M|CMTM3_ENST00000567572.1_Missense_Mutation_p.V154M			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	154	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|positive regulation of B cell receptor signaling pathway (GO:0050861)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CTTTAACGACGTGGCCAAATT	0.527																																						ENST00000424011.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)	4						c.(460-462)Gtg>Atg		CKLF-like MARVEL transmembrane domain containing 3							215.0	176.0	189.0					16																	66643846		2201	4300	6501	SO:0001583	missense	123920				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66643846G>A	AK056324	CCDS10815.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140931	ENSG00000140931			19174	protein-coding gene	gene with protein product		607886	"""chemokine-like factor superfamily 3"""	CKLFSF3		15087455	Standard	NM_144601		Approved	FLJ31762, BNAS2	uc002epv.3	Q96MX0	OTTHUMG00000137503	ENST00000424011.2:c.460G>A	16.37:g.66643846G>A	ENSP00000400482:p.Val154Met					CMTM3_ENST00000568477.1_Missense_Mutation_p.V68M|CMTM3_ENST00000567572.1_Missense_Mutation_p.V154M|CMTM3_ENST00000566121.1_Missense_Mutation_p.V68M|CMTM3_ENST00000562707.1_Missense_Mutation_p.V154M|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000565003.1_Missense_Mutation_p.V68M|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000564060.1_Missense_Mutation_p.V122M|CMTM3_ENST00000460097.1_Missense_Mutation_p.V68M|CMTM3_ENST00000361909.4_Missense_Mutation_p.V154M|CMTM3_ENST00000360086.4_Intron	p.V154M			Q96MX0	CKLF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)	5	986	+		Ovarian(137;0.0563)	154			MARVEL.		A6NCL9|Q8IUU8|Q8IWQ6|Q8IYE2|Q8IZ39|Q8IZ59	Missense_Mutation	SNP	ENST00000424011.2	37	c.460G>A	CCDS10815.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807959	0.50421	.	.	ENSG00000140931	ENST00000424011;ENST00000361909	T;T	0.32753	1.44;1.44	5.63	3.59	0.41128	Marvel (1);	0.113854	0.36854	N	0.002376	T	0.11239	0.0274	N	0.08118	0	0.80722	D	1	P	0.42296	0.775	B	0.31290	0.127	T	0.05402	-1.0887	10	0.26408	T	0.33	-4.9149	8.3713	0.32417	0.0:0.3121:0.5525:0.1354	.	154	Q96MX0	CKLF3_HUMAN	M	154	ENSP00000400482:V154M;ENSP00000354579:V154M	ENSP00000354579:V154M	V	+	1	0	CMTM3	65201347	0.995000	0.38212	0.858000	0.33744	0.932000	0.56968	2.846000	0.48262	2.644000	0.89710	0.655000	0.94253	GTG		0.527	CMTM3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268814.2	NM_144601		7	73	0	0	0	1	0	7	73				
HTR1D	3352	broad.mit.edu	37	1	23520183	23520183	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:23520183C>T	ENST00000374619.1	-	1	1039	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R177Q(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTTGGCCTGCCGCCAGAAGAG	0.597																																						ENST00000374619.1																			1	Substitution - Missense(1)	p.R177Q(1)	upper_aerodigestive_tract(1)	NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(529-531)cGg>cAg		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						51.0	58.0	56.0					1																	23520183		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520183C>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.530G>A	1.37:g.23520183C>T	ENSP00000363748:p.Arg177Gln					HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1039	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	177						Missense_Mutation	SNP	ENST00000374619.1	37	c.530G>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208456	0.79240	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.38077	1.16;1.16	5.31	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.58510	1.815	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.56854	-0.7910	10	0.51188	T	0.08	.	14.4357	0.67279	0.1485:0.8515:0.0:0.0	.	177	P28221	5HT1D_HUMAN	Q	177	ENSP00000313661:R177Q;ENSP00000363748:R177Q	ENSP00000313661:R177Q	R	-	2	0	HTR1D	23392770	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.487000	0.81328	1.244000	0.43870	0.467000	0.42956	CGG		0.597	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		17	32	0	0	0	1	0	17	32				
ARFGAP2	84364	broad.mit.edu	37	11	47196860	47196860	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr11:47196860G>A	ENST00000524782.1	-	4	497	c.269C>T	c.(268-270)gCt>gTt	p.A90V	ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A11V	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	90	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGAAAAAAAGCCGTCTGGAG	0.512																																						ENST00000524782.1																			0				breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(268-270)gCt>gTt		ADP-ribosylation factor GTPase activating protein 2							91.0	95.0	93.0					11																	47196860		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47196860G>A	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.269C>T	11.37:g.47196860G>A	ENSP00000434442:p.Ala90Val					ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A11V	p.A90V	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			4	497	-			90			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.269C>T	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202029	0.58234	.	.	ENSG00000149182	ENST00000524782;ENST00000419701;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T	0.46451	0.87;3.18;0.87;0.87;0.87;1.06	5.52	5.52	0.82312	.	0.052354	0.85682	D	0.000000	T	0.43831	0.1265	M	0.66297	2.02	0.80722	D	1	P;P;P	0.52061	0.95;0.514;0.762	B;B;B	0.39379	0.298;0.133;0.111	T	0.43766	-0.9371	10	0.30078	T	0.28	-14.057	19.4741	0.94979	0.0:0.0:1.0:0.0	.	90;11;90	B7Z6H9;B4DX29;Q8N6H7	.;.;ARFG2_HUMAN	V	90;11;90;90;90;83	ENSP00000434442:A90V;ENSP00000389264:A11V;ENSP00000431939:A90V;ENSP00000434809:A90V;ENSP00000431684:A90V;ENSP00000435488:A83V	ENSP00000389264:A11V	A	-	2	0	ARFGAP2	47153436	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.279000	0.72620	2.595000	0.87683	0.655000	0.94253	GCT		0.512	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		35	65	0	0	0	1	0	35	65				
TBX4	9496	broad.mit.edu	37	17	59560652	59560652	+	Silent	SNP	T	T	C			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:59560652T>C	ENST00000240335.1	+	8	1458	c.1413T>C	c.(1411-1413)ttT>ttC	p.F471F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Silent_p.F472F	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	471					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGCCCACTTTAGTGTCTACA	0.647																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1414-1416)ttT>ttC		T-box 4							75.0	74.0	74.0					17																	59560652		2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560652T>C	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1413T>C	17.37:g.59560652T>C						TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F471F	p.F472F			P57082	TBX4_HUMAN			9	1579	+			471					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.1416T>C	CCDS11629.1																																																																																				0.647	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		15	51	0	0	0	1	0	15	51				
TET1	80312	broad.mit.edu	37	10	70332828	70332828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:70332828C>T	ENST00000373644.4	+	2	942	c.733C>T	c.(733-735)Cag>Tag	p.Q245*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	245					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATGTTTGCTCAGGACACAGT	0.488																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(733-735)Cag>Tag		tet methylcytosine dioxygenase 1							61.0	57.0	59.0					10																	70332828		2203	4300	6503	SO:0001587	stop_gained	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332828C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.733C>T	10.37:g.70332828C>T	ENSP00000362748:p.Gln245*						p.Q245*	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	942	+			245					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	ENST00000373644.4	37	c.733C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	37	6.288139	0.97444	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.27	3.3	0.37823	.	0.528442	0.15991	N	0.234814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1138	0.25405	0.0:0.6404:0.264:0.0956	.	.	.	.	X	245	.	ENSP00000362748:Q245X	Q	+	1	0	TET1	70002834	0.573000	0.26676	0.643000	0.29450	0.967000	0.64934	0.487000	0.22356	1.219000	0.43474	0.563000	0.77884	CAG		0.488	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		28	46	0	0	0	1	0	28	46				
COX5B	1329	broad.mit.edu	37	2	98264496	98264496	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr2:98264496G>A	ENST00000258424.2	+	4	362	c.315G>A	c.(313-315)ctG>ctA	p.L105L	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	105					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						GGTTTTGGCTGCACAAAGGCG	0.507																																						ENST00000258424.2																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(313-315)ctG>ctA		cytochrome c oxidase subunit Vb							60.0	58.0	59.0					2																	98264496		2203	4300	6503	SO:0001819	synonymous_variant	1329				respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	g.chr2:98264496G>A	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.315G>A	2.37:g.98264496G>A						COX5B_ENST00000464949.1_3'UTR	p.L105L	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN			4	362	+			105					Q53YB7|Q96J18|Q99610	Silent	SNP	ENST00000258424.2	37	c.315G>A	CCDS2032.1																																																																																				0.507	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2	NM_001862		4	29	0	0	0	1	0	4	29				
KIF4A	24137	broad.mit.edu	37	X	69572507	69572507	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:69572507G>A	ENST00000374403.3	+	14	1570		c.e14+1		KIF4A_ENST00000374388.3_Splice_Site	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAAGAAGCCGTAAGTAATTG	0.433																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.e14+1		kinesin family member 4A							92.0	86.0	88.0					X																	69572507		2203	4300	6503	SO:0001630	splice_region_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69572507G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1488+1G>A	X.37:g.69572507G>A						KIF4A_ENST00000374388.3_Splice_Site		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			14	1570	+								B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Splice_Site	SNP	ENST00000374403.3	37		CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785068	0.31593	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9517	0.58405	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF4A	69489232	1.000000	0.71417	0.999000	0.59377	0.167000	0.22549	4.682000	0.61671	2.457000	0.83068	0.544000	0.68410	.		0.433	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	Intron	4	52	0	0	0	1	0	4	52				
CYLC1	1538	broad.mit.edu	37	X	83127919	83127919	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:83127919A>G	ENST00000329312.4	+	4	240	c.203A>G	c.(202-204)gAa>gGa	p.E68G		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	68					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAACTAGAAGAAGGCCAGAAA	0.343																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(202-204)gAa>gGa		cylicin, basic protein of sperm head cytoskeleton 1							23.0	22.0	22.0					X																	83127919		2193	4292	6485	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83127919A>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.203A>G	X.37:g.83127919A>G	ENSP00000331556:p.Glu68Gly						p.E68G	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	240	+			68					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.203A>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	5.072	0.198944	0.09652	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.48201	0.82	4.58	3.41	0.39046	.	.	.	.	.	T	0.31199	0.0789	N	0.17800	0.525	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.26310	0.068;0.068	T	0.22591	-1.0212	9	0.45353	T	0.12	-10.6099	5.9249	0.19104	0.8793:0.0:0.1207:0.0	.	68;68	P35663;F5H4V5	CYLC1_HUMAN;.	G	68	ENSP00000331556:E68G	ENSP00000331556:E68G	E	+	2	0	CYLC1	83014575	0.853000	0.29707	0.011000	0.14972	0.002000	0.02628	3.898000	0.56281	0.692000	0.31613	0.486000	0.48141	GAA		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		15	21	0	0	0	1	0	15	21				
TRMT2B	79979	broad.mit.edu	37	X	100277044	100277044	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:100277044A>G	ENST00000372936.3	-	9	1536	c.764T>C	c.(763-765)cTc>cCc	p.L255P	TRMT2B_ENST00000545398.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L210P|TRMT2B_ENST00000338687.7_Missense_Mutation_p.L210P|TRMT2B_ENST00000478422.1_5'Flank|TRMT2B_ENST00000372931.5_Missense_Mutation_p.L255P	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	255						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTGAACATGGAGCTCCTCCTG	0.448																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(628-630)cTc>cCc		tRNA methyltransferase 2 homolog B (S. cerevisiae)							65.0	60.0	61.0					X																	100277044		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100277044A>G	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.764T>C	X.37:g.100277044A>G	ENSP00000362027:p.Leu255Pro					TRMT2B_ENST00000372936.3_Missense_Mutation_p.L255P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L210P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.L255P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L255P	p.L210P			Q96GJ1	TRM2_HUMAN			8	1434	-			255					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.629T>C	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670830	0.47781	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.52057	0.76;0.68;0.76;0.68;0.68;0.68	4.69	4.69	0.59074	.	0.626734	0.15176	N	0.276341	T	0.67552	0.2905	M	0.81112	2.525	0.58432	D	0.999992	D;D;D	0.65815	0.995;0.993;0.966	D;D;P	0.65987	0.94;0.91;0.781	T	0.69176	-0.5214	10	0.59425	D	0.04	-23.0784	11.4649	0.50232	1.0:0.0:0.0:0.0	.	210;255;255	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	P	210;255;210;255;255;255	ENSP00000340970:L210P;ENSP00000438134:L255P;ENSP00000362030:L210P;ENSP00000362026:L255P;ENSP00000362027:L255P;ENSP00000362022:L255P	ENSP00000340970:L210P	L	-	2	0	TRMT2B	100163700	0.975000	0.34042	0.789000	0.31954	0.377000	0.30045	6.954000	0.76001	1.677000	0.50941	0.350000	0.21858	CTC		0.448	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		5	55	0	0	0	1	0	5	55				
DTX1	1840	broad.mit.edu	37	12	113532652	113532652	+	Missense_Mutation	SNP	G	G	A	rs375934553		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr12:113532652G>A	ENST00000257600.3	+	6	1789	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	429					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGTGCTTCGGCACAAGGGC	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1285-1287)cGg>cAg		deltex homolog 1 (Drosophila)							51.0	46.0	47.0					12																	113532652		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532652G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1286G>A	12.37:g.113532652G>A	ENSP00000257600:p.Arg429Gln					DTX1_ENST00000547974.1_3'UTR	p.R429Q	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			6	1789	+			429					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1286G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647444	0.29246	.	.	ENSG00000135144	ENST00000257600	T	0.67345	-0.26	4.14	3.24	0.37175	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.214093	0.38720	N	0.001582	T	0.36110	0.0955	N	0.02011	-0.69	0.22389	N	0.999146	B	0.17852	0.024	B	0.18561	0.022	T	0.21075	-1.0256	10	0.17832	T	0.49	-6.2595	10.4238	0.44365	0.1002:0.0:0.8998:0.0	.	429	Q86Y01	DTX1_HUMAN	Q	429	ENSP00000257600:R429Q	ENSP00000257600:R429Q	R	+	2	0	DTX1	112017035	0.996000	0.38824	0.570000	0.28473	0.943000	0.58893	3.809000	0.55606	0.723000	0.32274	0.456000	0.33151	CGG		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			14	21	0	0	0	1	0	14	21				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	57	0	0	0	1	0	5	57				
ATRX	546	broad.mit.edu	37	X	76876000	76876000	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:76876000C>T	ENST00000373344.5	-	20	5349	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	ATRX_ENST00000395603.3_Splice_Site_p.G1674D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1712	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAAATCAGGGCCTACAAAAAT	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e20-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						36.0	30.0	32.0					X																	76876000		2196	4290	6486	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76876000C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5135-1G>A	X.37:g.76876000C>T						ATRX_ENST00000395603.3_Splice_Site_p.G1674_splice|ATRX_ENST00000480283.1_5'UTR	p.G1712_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5349	-			1712			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.5134_splice	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.556869|2.556869	0.45590|0.45590	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.92858	.|-3.12;-3.12	4.47|4.47	4.47|4.47	0.54385|0.54385	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94427|0.94427	0.8207|0.8207	L|L	0.45698|0.45698	1.435|1.435	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.992	.|D;D	.|0.97110	.|1.0;0.965	D|D	0.95267|0.95267	0.8374|0.8374	5|10	.|0.87932	.|D	.|0	.|.	16.4458|16.4458	0.83932|0.83932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1674;1712	.|P46100-4;P46100	.|.;ATRX_HUMAN	T|D	1|1712;1674	.|ENSP00000362441:G1712D;ENSP00000378967:G1674D	.|ENSP00000362441:G1712D	A|G	-|-	1|2	0|0	ATRX|ATRX	76762656|76762656	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.603000|0.603000	0.37013|0.37013	7.414000|7.414000	0.80117|0.80117	1.790000|1.790000	0.52503|0.52503	0.544000|0.544000	0.68410|0.68410	GCC|GGC		0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	12	24	0	0	0	1	0	12	24				
FAM196A	642938	broad.mit.edu	37	10	128974295	128974295	+	Missense_Mutation	SNP	C	C	T	rs370769092		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:128974295C>T	ENST00000522781.1	-	4	920	c.365G>A	c.(364-366)cGc>cAc	p.R122H	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.R122H	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCCTTTTTGCGGTCCAGAGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17736	0.0		0.0	False		,,,				2504	0.001					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(364-366)cGc>cAc		family with sequence similarity 196, member A		C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	108.0	102.0	104.0		365,	3.9	1.0	10		104	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,	122/480,	128974295	1,13005	2203	4300	6503	SO:0001583	missense	642938							g.chr10:128974295C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.365G>A	10.37:g.128974295C>T	ENSP00000429763:p.Arg122His					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.R122H	p.R122H	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	920	-			122					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.365G>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537785	0.85917	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.60040	0.22;0.22	4.84	3.93	0.45458	.	0.054573	0.85682	N	0.000000	T	0.43077	0.1231	L	0.32530	0.975	0.58432	D	0.999999	D;P	0.56287	0.975;0.534	B;B	0.36666	0.23;0.157	T	0.51888	-0.8648	10	0.87932	D	0	.	13.4965	0.61428	0.0:0.9232:0.0:0.0768	.	122;122	B7ZME7;Q6ZSG2	.;F196A_HUMAN	H	122	ENSP00000429763:R122H;ENSP00000428730:R122H	ENSP00000428730:R122H	R	-	2	0	FAM196A	128864285	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.382000	0.79729	1.345000	0.45676	0.563000	0.77884	CGC		0.547	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	68	0	0	0	1	0	4	68				
ZHX3	23051	broad.mit.edu	37	20	39831589	39831589	+	Silent	SNP	A	A	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr20:39831589A>T	ENST00000309060.3	-	4	2383	c.1968T>A	c.(1966-1968)atT>atA	p.I656I	ZHX3_ENST00000559234.1_Silent_p.I656I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Silent_p.I656I|ZHX3_ENST00000540170.1_Silent_p.I656I|ZHX3_ENST00000544979.2_Silent_p.I656I|ZHX3_ENST00000560361.1_Silent_p.I656I|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	656					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACCAGCTATCAATTTCTCGTC	0.502																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1966-1968)atT>atA		zinc fingers and homeoboxes 3							154.0	166.0	162.0					20																	39831589		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831589A>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1968T>A	20.37:g.39831589A>T						ZHX3_ENST00000559234.1_Silent_p.I656I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.I656I|ZHX3_ENST00000432768.2_Silent_p.I656I|ZHX3_ENST00000540170.1_Silent_p.I656I|ZHX3_ENST00000560361.1_Silent_p.I656I	p.I656I			Q9H4I2	ZHX3_HUMAN			4	2383	-		Myeloproliferative disorder(115;0.00425)	656					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1968T>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	A	6.986	0.552076	0.13374	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.06	-0.303	0.12792	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.2513	11.1364	0.48377	0.5532:0.0:0.4468:0.0	.	.	.	.	R	365	.	.	X	-	1	0	ZHX3	39265003	0.528000	0.26314	0.998000	0.56505	0.998000	0.95712	-0.130000	0.10498	-0.042000	0.13535	0.528000	0.53228	TGA		0.502	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		4	154	0	0	0	1	0	4	154				
GNAT1	2779	broad.mit.edu	37	3	50230983	50230983	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:50230983G>A	ENST00000433068.1	+	4	392	c.336G>A	c.(334-336)gaG>gaA	p.E112E	GNAT1_ENST00000232461.3_Silent_p.E112E	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	112					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTATCGAGGAGGGCACGATGC	0.652																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(334-336)gaG>gaA		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							46.0	39.0	42.0					3																	50230983		2203	4300	6503	SO:0001819	synonymous_variant	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230983G>A		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.336G>A	3.37:g.50230983G>A						GNAT1_ENST00000433068.1_Silent_p.E112E	p.E112E	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	4	450	+			112					Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.336G>A	CCDS2812.1																																																																																				0.652	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		12	29	0	0	0	1	0	12	29				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	47	0	0	0	1	0	24	47				
WBP11P1	441818	broad.mit.edu	37	18	30091799	30091799	+	RNA	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr18:30091799A>G	ENST00000567636.1	+	0	174					NR_003558.1				WW domain binding protein 11 pseudogene 1																		ttAAATGAACAAGTAAACCAT	0.438																																						ENST00000567636.1																			0																																																			0							g.chr18:30091799A>G	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091799A>G								NR_003558.1						0	174	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.438	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			22	52	0	0	0	1	0	22	52				
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:7577108C>A	ENST00000269305.4	-	8	1019	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000420246.2_Missense_Mutation_p.C277F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCCCAGGACAGGCACAAAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		61	Substitution - Missense(40)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Unknown(2)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(11)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|bone(6)|upper_aerodigestive_tract(5)|oesophagus(5)|stomach(4)|urinary_tract(4)|central_nervous_system(3)|skin(2)|cervix(1)|peritoneum(1)|large_intestine(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(829-831)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	66.0					17																	7577108		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577108C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.830G>T	17.37:g.7577108C>A	ENSP00000269305:p.Cys277Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F	p.C277F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	962	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.830G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209345	0.79240	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91872	3.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.85130	0.982;0.997;0.99;0.986	D	0.96422	0.9312	10	0.87932	D	0	-10.0792	16.1198	0.81342	0.0:1.0:0.0:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	277;277;277;277;277;266;145	ENSP00000352610:C277F;ENSP00000269305:C277F;ENSP00000398846:C277F;ENSP00000391127:C277F;ENSP00000391478:C277F;ENSP00000425104:C145F	ENSP00000269305:C277F	C	-	2	0	TP53	7517833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.667000	0.90743	0.462000	0.41574	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	10	1	0	1.64113e-05	1	1.64113e-05	21	10				
UGT8	7368	broad.mit.edu	37	4	115544143	115544143	+	Missense_Mutation	SNP	A	A	G	rs201002468		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr4:115544143A>G	ENST00000310836.6	+	2	629	c.107A>G	c.(106-108)tAc>tGc	p.Y36C	UGT8_ENST00000394511.3_Missense_Mutation_p.Y36C	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	36					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGCCATATGTACATTTTCAAG	0.478																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(106-108)tAc>tGc		UDP glycosyltransferase 8							85.0	79.0	81.0					4																	115544143		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544143A>G	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.107A>G	4.37:g.115544143A>G	ENSP00000311648:p.Tyr36Cys					UGT8_ENST00000394511.3_Missense_Mutation_p.Y36C	p.Y36C	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	629	+		Ovarian(17;0.156)	36					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.107A>G	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955618	0.73902	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.59364	0.27;0.27;0.27	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	L	0.40543	1.245	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	T	0.71286	-0.4638	10	0.87932	D	0	.	15.7845	0.78291	1.0:0.0:0.0:0.0	.	36	Q16880	CGT_HUMAN	C	36	ENSP00000311648:Y36C;ENSP00000421446:Y36C;ENSP00000378019:Y36C	ENSP00000311648:Y36C	Y	+	2	0	UGT8	115763592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.199000	0.95003	2.137000	0.66172	0.528000	0.53228	TAC		0.478	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		16	30	0	0	0	1	0	16	30				
TRPM2	7226	broad.mit.edu	37	21	45833896	45833896	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr21:45833896C>G	ENST00000397928.1	+	20	3530	c.3085C>G	c.(3085-3087)Ctc>Gtc	p.L1029V	TRPM2_ENST00000300482.5_Missense_Mutation_p.L1029V|TRPM2_ENST00000397932.2_Missense_Mutation_p.L1029V|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.L1009V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1029					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGTCCTCCTACTCTGCCTCTA	0.642																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3085-3087)Ctc>Gtc		transient receptor potential cation channel, subfamily M, member 2							223.0	222.0	223.0					21																	45833896		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833896C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3085C>G	21.37:g.45833896C>G	ENSP00000381023:p.Leu1029Val					TRPM2_ENST00000300481.9_Missense_Mutation_p.L1009V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.L1029V|TRPM2_ENST00000397932.2_Missense_Mutation_p.L1029V	p.L1029V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			20	3530	+			1029					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3085C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802751	0.50315	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.74	3.83	0.44106	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98507	0.9502	M	0.71036	2.16	0.52099	D	0.99994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98231	1.0483	10	0.23302	T	0.38	-36.2928	15.0479	0.71841	0.0:0.857:0.143:0.0	.	1029;815;1029	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	V	1029;1029;1009;1029	ENSP00000300482:L1029V;ENSP00000381023:L1029V;ENSP00000300481:L1009V;ENSP00000381026:L1029V	ENSP00000300481:L1009V	L	+	1	0	TRPM2	44658324	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	1.305000	0.33493	1.080000	0.41073	0.591000	0.81541	CTC		0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		6	262	0	0	0	1	0	6	262				
SEPT6	23157	broad.mit.edu	37	X	118774726	118774726	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:118774726C>T	ENST00000343984.5	-	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SEPT6_ENST00000354228.4_Missense_Mutation_p.G239D|SEPT6_ENST00000394617.2_Missense_Mutation_p.G269D|SEPT6_ENST00000360156.7_Missense_Mutation_p.G239D|SEPT6_ENST00000394610.1_Missense_Mutation_p.G239D|SEPT6_ENST00000489216.1_Missense_Mutation_p.G239D|SEPT6_ENST00000354416.3_Missense_Mutation_p.G239D|SEPT6_ENST00000394616.4_Missense_Mutation_p.G181D	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	239	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTGTGCTGCCAATGACAGC	0.537			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(715-717)gGc>gAc		septin 6							167.0	115.0	132.0					X																	118774726		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118774726C>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.716G>A	X.37:g.118774726C>T	ENSP00000341524:p.Gly239Asp					SEPT6_ENST00000343984.5_Missense_Mutation_p.G239D|SEPT6_ENST00000394616.4_Missense_Mutation_p.G181D|SEPT6_ENST00000489216.1_Missense_Mutation_p.G239D|SEPT6_ENST00000394617.2_Missense_Mutation_p.G269D|SEPT6_ENST00000360156.7_Missense_Mutation_p.G239D|SEPT6_ENST00000354416.3_Missense_Mutation_p.G239D|SEPT6_ENST00000354228.4_Missense_Mutation_p.G239D	p.G239D	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			6	980	-			239					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.716G>A	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050955	0.93740	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T;T	0.60299	1.38;1.38;1.38;1.38;1.38;1.38;0.2;1.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92543	0.6043	10	0.87932	D	0	.	17.527	0.87803	0.0:1.0:0.0:0.0	.	269;181;239;239	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	D	239;239;239;239;239;239;181;269;239	ENSP00000353278:G239D;ENSP00000346169:G239D;ENSP00000418715:G239D;ENSP00000346397:G239D;ENSP00000378108:G239D;ENSP00000341524:G239D;ENSP00000378114:G181D;ENSP00000378115:G269D	ENSP00000341524:G239D	G	-	2	0	SEPT6	118658754	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.487000	0.81328	2.354000	0.79902	0.594000	0.82650	GGC		0.537	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		13	64	0	0	0	1	0	13	64				
RNF216	54476	broad.mit.edu	37	7	5781284	5781284	+	Intron	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:5781284C>T	ENST00000425013.2	-	4	426				RNF216_ENST00000389902.3_Missense_Mutation_p.G122R	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						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)		TCCTGTGCCCCAGAATCAAAC	0.433																																						ENST00000389902.3																		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.(364-366)Ggg>Agg		ring finger protein 216							157.0	145.0	149.0					7																	5781284		2203	4300	6503	SO:0001627	intron_variant	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.chr7:5781284C>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.202-9G>A	7.37:g.5781284C>T						RNF216_ENST00000425013.2_Intron	p.G122R			Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	631	-		Ovarian(82;0.07)	65					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.364G>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950182	0.53186	.	.	ENSG00000011275	ENST00000389902	T	0.53206	0.63	5.45	4.56	0.56223	.	0.405962	0.26387	N	0.024664	T	0.35364	0.0929	L	0.48642	1.525	0.31660	N	0.645647	P	0.45078	0.85	B	0.36504	0.226	T	0.47045	-0.9147	9	.	.	.	-19.4028	9.1939	0.37215	0.0:0.9058:0.0:0.0942	.	122	Q9NWF9-1	.	R	122	ENSP00000374552:G122R	.	G	-	1	0	RNF216	5747810	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.580000	0.23803	2.941000	0.99782	0.655000	0.94253	GGG		0.433	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		4	169	0	0	0	1	0	4	169				
ABCA1	19	broad.mit.edu	37	9	107602687	107602687	+	Silent	SNP	G	G	A	rs566973265		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr9:107602687G>A	ENST00000374736.3	-	9	1321	c.927C>T	c.(925-927)tgC>tgT	p.C309C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	309					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CGGGATGCCCGCAGACAATAC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19166	0.0		0.0	False		,,,				2504	0.0					ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(925-927)tgC>tgT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						98.0	75.0	83.0					9																	107602687		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107602687G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.927C>T	9.37:g.107602687G>A							p.C309C	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	9	1321	-			309					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.927C>T	CCDS6762.1																																																																																				0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	45	0	0	0	1	0	3	45				
ZSCAN21	7589	broad.mit.edu	37	7	99661835	99661835	+	Silent	SNP	A	A	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:99661835A>G	ENST00000292450.4	+	4	1181	c.1017A>G	c.(1015-1017)aaA>aaG	p.K339K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K305R|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K305R	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	339					positive regulation of transcription, DNA-templated (GO:0045893)|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)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTGTGGAAAAGCTTTTGGGC	0.502																																						ENST00000543588.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(913-915)aAg>aGg		zinc finger and SCAN domain containing 21							73.0	76.0	75.0					7																	99661835		2203	4300	6503	SO:0001819	synonymous_variant	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661835A>G	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1017A>G	7.37:g.99661835A>G						ZSCAN21_ENST00000292450.4_Silent_p.K339K|ZSCAN21_ENST00000477297.1_3'UTR|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K305R	p.K305R			Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1158	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		0					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.914A>G	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456246	0.43634	.	.	ENSG00000166529	ENST00000543588;ENST00000456748	T;T	0.02280	4.36;4.36	3.99	2.84	0.33178	.	0.000000	0.44902	D	0.000419	T	0.02193	0.0068	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.49808	-0.8900	9	0.87932	D	0	.	5.4781	0.16708	0.7823:0.0:0.2177:0.0	.	305	G3V1M0	.	R	305	ENSP00000441212:K305R;ENSP00000390960:K305R	ENSP00000390960:K305R	K	+	2	0	ZSCAN21	99499771	0.365000	0.25006	0.998000	0.56505	0.836000	0.47400	1.075000	0.30716	0.892000	0.36259	0.533000	0.62120	AAG		0.502	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		29	48	0	0	0	1	0	29	48				
LOC146880	146880	broad.mit.edu	37	17	62758555	62758555	+	RNA	SNP	T	T	C			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:62758555T>C	ENST00000400873.3	-	0	1390					NR_026899.1																						AGAGTAGATATGGTAAGAACT	0.433																																						ENST00000400873.3																			0																																																			0							g.chr17:62758555T>C																													17.37:g.62758555T>C								NR_026899.1						0	1390	-									RNA	SNP	ENST00000400873.3	37																																																																																						0.433	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				14	29	0	0	0	1	0	14	29				
OR13C3	138803	broad.mit.edu	37	9	107298302	107298302	+	Missense_Mutation	SNP	G	G	A	rs369932733		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr9:107298302G>A	ENST00000374781.2	-	1	835	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATGCCTTGCGTCTTCCTGTG	0.428																																					GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(793-795)Cgc>Tgc		olfactory receptor, family 13, subfamily C, member 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	111.0	113.0		793	2.3	0.9	9		113	0,8600		0,0,4300	no	missense	OR13C3	NM_001001961.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	265/348	107298302	1,13005	2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298302G>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.793C>T	9.37:g.107298302G>A	ENSP00000363913:p.Arg265Cys						p.R265C	NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN			1	835	-			265					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.793C>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194001	0.22037	2.27E-4	0.0	ENSG00000204246	ENST00000374781	T	0.00164	8.64	4.27	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.563642	0.14676	U	0.305012	T	0.00144	0.0004	L	0.56280	1.765	0.22779	N	0.998749	B	0.27559	0.181	B	0.21546	0.035	T	0.28902	-1.0029	10	0.72032	D	0.01	.	5.0003	0.14261	0.1051:0.0:0.5957:0.2993	.	265	Q8NGS6	O13C3_HUMAN	C	265	ENSP00000363913:R265C	ENSP00000363913:R265C	R	-	1	0	OR13C3	106338123	0.000000	0.05858	0.940000	0.37924	0.850000	0.48378	0.032000	0.13732	1.145000	0.42336	0.655000	0.94253	CGC		0.428	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			19	73	0	0	0	1	0	19	73				
ASZ1	136991	broad.mit.edu	37	7	117003694	117003694	+	Missense_Mutation	SNP	C	C	T	rs199934920	byFrequency	TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:117003694C>T	ENST00000284629.2	-	13	1446	c.1384G>A	c.(1384-1386)Ggt>Agt	p.G462S		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AGAAGAAAACCGAATCCGCAT	0.318													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15409	0.0		0.001	False		,,,				2504	0.0					ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(1384-1386)Ggt>Agt		ankyrin repeat, SAM and basic leucine zipper domain containing 1		C	SER/GLY	0,4406		0,0,2203	111.0	111.0	111.0		1384	5.2	1.0	7		111	4,8594	4.3+/-15.6	0,4,4295	yes	missense	ASZ1	NM_130768.2	56	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	462/476	117003694	4,13000	2203	4299	6502	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117003694C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1384G>A	7.37:g.117003694C>T	ENSP00000284629:p.Gly462Ser						p.G462S	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		13	1446	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		462						Missense_Mutation	SNP	ENST00000284629.2	37	c.1384G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795101	0.70452	0.0	4.65E-4	ENSG00000154438	ENST00000284629	T	0.74209	-0.82	5.23	5.23	0.72850	.	0.173767	0.49305	D	0.000146	D	0.83806	0.5334	M	0.63843	1.955	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84935	0.0862	10	0.62326	D	0.03	0.1586	14.2861	0.66247	0.0:1.0:0.0:0.0	.	453;462	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	S	462	ENSP00000284629:G462S	ENSP00000284629:G462S	G	-	1	0	ASZ1	116790930	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	2.916000	0.48813	2.440000	0.82611	0.591000	0.81541	GGT		0.318	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		32	74	0	0	0	1	0	32	74				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	62	0	0	0	1	0	3	62				
ZFYVE20	64145	broad.mit.edu	37	3	15126301	15126301	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:15126301C>T	ENST00000253699.3	-	8	1152	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.R180H|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R180H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	180	Necessary for the correct targeting to endosomes.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CCCGCAGAGGCGGCAGTGGTG	0.547																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(538-540)cGc>cAc		zinc finger, FYVE domain containing 20							59.0	68.0	65.0					3																	15126301		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15126301C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.539G>A	3.37:g.15126301C>T	ENSP00000253699:p.Arg180His					ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R180H|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.R180H	p.R180H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			8	1152	-			180			Necessary for the correct targeting to endosomes.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.539G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196538	0.94960	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.81247	-1.47;-1.47;-1.47	5.33	4.46	0.54185	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.90594	0.7051	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92053	0.5650	10	0.87932	D	0	-15.0335	13.5262	0.61597	0.0:0.9252:0.0:0.0748	.	180;180	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	H	180	ENSP00000253699:R180H;ENSP00000422551:R180H;ENSP00000391039:R180H	ENSP00000253699:R180H	R	-	2	0	ZFYVE20	15101305	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.813000	0.86123	1.248000	0.43934	0.484000	0.47621	CGC		0.547	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		4	67	0	0	0	1	0	4	67				
ARHGAP21	57584	broad.mit.edu	37	10	24909113	24909113	+	Nonsense_Mutation	SNP	G	G	A	rs139365604		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:24909113G>A	ENST00000396432.2	-	9	2197	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R358*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	570					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTCATTCGCCTGTTATCA	0.393																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1711-1713)Cga>Tga		Rho GTPase activating protein 21							74.0	75.0	75.0					10																	24909113		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909113G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1711C>T	10.37:g.24909113G>A	ENSP00000379709:p.Arg571*					ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R358*	p.R571*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	2197	-			570					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.1711C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	36	5.866839	0.97043	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.5	1.27	0.21489	.	0.207171	0.40064	N	0.001187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0656	0.80867	0.0:0.0:0.4029:0.5971	.	.	.	.	X	571;560;358;561;571;406	.	ENSP00000365604:R358X	R	-	1	2	ARHGAP21	24949119	0.998000	0.40836	0.028000	0.17463	0.035000	0.12851	1.284000	0.33249	0.034000	0.15491	0.650000	0.86243	CGA		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		7	167	0	0	0	1	0	7	167				
DCAF8L1	139425	broad.mit.edu	37	X	27998604	27998604	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:27998604G>A	ENST00000441525.1	-	1	962	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	283										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTGTGCTTGGCCACACGCTT	0.507																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(847-849)gCc>gTc		DDB1 and CUL4 associated factor 8-like 1							88.0	75.0	79.0					X																	27998604		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998604G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.848C>T	X.37:g.27998604G>A	ENSP00000405222:p.Ala283Val						p.A283V	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	962	-			283					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.848C>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670618	0.29693	.	.	ENSG00000226372	ENST00000441525	T	0.80909	-1.43	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.064020	0.64402	N	0.000009	T	0.65893	0.2735	L	0.28649	0.875	0.42671	D	0.993517	B	0.19200	0.034	B	0.23852	0.049	T	0.55244	-0.8171	10	0.29301	T	0.29	-4.4207	7.2758	0.26283	1.0E-4:0.0:0.9999:0.0	.	283	A6NGE4	DC8L1_HUMAN	V	283	ENSP00000405222:A283V	ENSP00000405222:A283V	A	-	2	0	DCAF8L1	27908525	1.000000	0.71417	0.098000	0.21074	0.046000	0.14306	2.798000	0.47884	0.691000	0.31592	0.284000	0.19432	GCC		0.507	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		24	48	0	0	0	1	0	24	48				
MACF1	23499	broad.mit.edu	37	1	39823120	39823120	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:39823120A>T	ENST00000372915.3	+	44	11600	c.11513A>T	c.(11512-11514)gAt>gTt	p.D3838V	MACF1_ENST00000539005.1_Missense_Mutation_p.D1771V|MACF1_ENST00000317713.7_Missense_Mutation_p.D1771V|MACF1_ENST00000361689.2_Missense_Mutation_p.D1771V|MACF1_ENST00000289893.4_Missense_Mutation_p.D2273V|MACF1_ENST00000564288.1_Missense_Mutation_p.D3833V|MACF1_ENST00000567887.1_Missense_Mutation_p.D3870V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.D1771V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3838					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTCTTGGATCAGCATGGC	0.502																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(11497-11499)gAt>gTt		microtubule-actin crosslinking factor 1							78.0	75.0	76.0					1																	39823120		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39823120A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11513A>T	1.37:g.39823120A>T	ENSP00000362006:p.Asp3838Val					MACF1_ENST00000539005.1_Missense_Mutation_p.D1771V|MACF1_ENST00000361689.2_Missense_Mutation_p.D1771V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.D3838V|MACF1_ENST00000567887.1_Missense_Mutation_p.D3870V|MACF1_ENST00000317713.7_Missense_Mutation_p.D1771V|MACF1_ENST00000545844.1_Missense_Mutation_p.D1771V|MACF1_ENST00000289893.4_Missense_Mutation_p.D2273V	p.D3833V			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		45	12275	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3838					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.11498A>T		.	.	.	.	.	.	.	.	.	.	A	15.37	2.812983	0.50527	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.07	4.94	0.65067	.	0.284658	0.29884	N	0.010956	T	0.56262	0.1973	M	0.66939	2.045	0.80722	D	1	D;D;D;P	0.71674	0.998;0.995;0.993;0.815	D;D;D;P	0.72625	0.978;0.972;0.913;0.615	T	0.56774	-0.7923	10	0.52906	T	0.07	.	12.2361	0.54516	0.9339:0.0:0.0661:0.0	.	3838;1771;1771;1736	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	V	1771;3838;1771;1771;1771;1920;2273	ENSP00000439537:D1771V;ENSP00000362006:D3838V;ENSP00000354573:D1771V;ENSP00000313438:D1771V;ENSP00000444364:D1771V;ENSP00000437059:D1920V;ENSP00000289893:D2273V	ENSP00000289893:D2273V	D	+	2	0	MACF1	39595707	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	5.726000	0.68515	1.114000	0.41781	0.533000	0.62120	GAT		0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	52	0	0	0	1	0	4	52				
TMEM45A	55076	broad.mit.edu	37	3	100274191	100274191	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:100274191T>G	ENST00000323523.4	+	2	449	c.136T>G	c.(136-138)Ttc>Gtc	p.F46V	TMEM45A_ENST00000403410.1_Missense_Mutation_p.F62V|TMEM45A_ENST00000462884.1_3'UTR	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	46						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CAAAACATTATTCTATCGATT	0.353																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.(184-186)Ttc>Gtc		transmembrane protein 45A							165.0	170.0	168.0					3																	100274191		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100274191T>G	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.136T>G	3.37:g.100274191T>G	ENSP00000319009:p.Phe46Val					TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000323523.4_Missense_Mutation_p.F46V	p.F62V			Q9NWC5	TM45A_HUMAN			4	804	+			46					Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.184T>G	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936884	0.34189	.	.	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.42900	1.52;1.52;0.96	5.84	3.44	0.39384	.	0.362380	0.32548	N	0.005950	T	0.35278	0.0926	M	0.78801	2.425	0.35734	D	0.818181	P;B	0.39282	0.666;0.346	B;B	0.33339	0.162;0.077	T	0.40270	-0.9572	10	0.17369	T	0.5	-8.1924	6.7085	0.23264	0.1379:0.0752:0.0:0.7869	.	62;46	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	V	46;62;62	ENSP00000319009:F46V;ENSP00000385089:F62V;ENSP00000405597:F62V	ENSP00000319009:F46V	F	+	1	0	TMEM45A	101756881	1.000000	0.71417	0.905000	0.35620	0.271000	0.26615	3.999000	0.57031	0.988000	0.38734	0.533000	0.62120	TTC		0.353	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		3	99	0	0	0	1	0	3	99				
ZCCHC2	54877	broad.mit.edu	37	18	60242148	60242148	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr18:60242148C>T	ENST00000269499.5	+	13	3252	c.2834C>T	c.(2833-2835)cCa>cTa	p.P945L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P624L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	945						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCTCCCCAGCCAGCGAGCGCA	0.642																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2833-2835)cCa>cTa		zinc finger, CCHC domain containing 2							58.0	65.0	62.0					18																	60242148		2133	4253	6386	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242148C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2834C>T	18.37:g.60242148C>T	ENSP00000269499:p.Pro945Leu					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P624L	p.P945L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3252	+			945					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2834C>T	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957387	0.34565	.	.	ENSG00000141664	ENST00000269499	T	0.27890	1.64	4.89	3.06	0.35304	.	0.349252	0.27130	N	0.020787	T	0.22704	0.0548	L	0.32530	0.975	0.49389	D	0.999781	B	0.24258	0.1	B	0.24541	0.054	T	0.06752	-1.0809	10	0.49607	T	0.09	-2.9138	10.0809	0.42388	0.0:0.7857:0.139:0.0753	.	945	Q9C0B9	ZCHC2_HUMAN	L	945	ENSP00000269499:P945L	ENSP00000269499:P945L	P	+	2	0	ZCCHC2	58393128	0.982000	0.34865	0.380000	0.26093	0.927000	0.56198	4.942000	0.63547	1.169000	0.42739	0.563000	0.77884	CCA		0.642	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		24	43	0	0	0	1	0	24	43				
CA8	767	broad.mit.edu	37	8	61121347	61121347	+	Silent	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr8:61121347C>T	ENST00000317995.4	-	8	1134	c.870G>A	c.(868-870)caG>caA	p.Q290Q		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	290					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TCTTTGGCTACTGAAATGCAG	0.468																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(868-870)caG>caA		carbonic anhydrase VIII							113.0	94.0	101.0					8																	61121347		2203	4300	6503	SO:0001819	synonymous_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61121347C>T	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.870G>A	8.37:g.61121347C>T							p.Q290Q	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			8	1134	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	290					A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	c.870G>A	CCDS6174.1																																																																																				0.468	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			22	60	0	0	0	1	0	22	60				
ARSD	414	broad.mit.edu	37	X	2836162	2836162	+	Silent	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:2836162G>A	ENST00000381154.1	-	5	621	c.546C>T	c.(544-546)aaC>aaT	p.N182N	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	182					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCACAGTCGTTTGTGAGCG	0.632																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(544-546)aaC>aaT		arylsulfatase D							34.0	23.0	27.0					X																	2836162		2203	4297	6500	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2836162G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.546C>T	X.37:g.2836162G>A						ARSD_ENST00000217890.6_5'UTR	p.N182N	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			5	621	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	182					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.546C>T	CCDS35196.1																																																																																				0.632	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			9	7	0	0	0	1	0	9	7				
CYLC1	1538	broad.mit.edu	37	X	83128300	83128300	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:83128300G>T	ENST00000329312.4	+	4	621	c.584G>T	c.(583-585)tGt>tTt	p.C195F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAAAAAATTGTTCACAAAAA	0.318																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(583-585)tGt>tTt		cylicin, basic protein of sperm head cytoskeleton 1							25.0	25.0	25.0					X																	83128300		2179	4259	6438	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128300G>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.584G>T	X.37:g.83128300G>T	ENSP00000331556:p.Cys195Phe						p.C195F	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	621	+			195					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.584G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	0.058	-1.230504	0.01518	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.42131	0.98	3.84	0.0678	0.14367	.	.	.	.	.	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	9	0.10111	T	0.7	8.874	2.171	0.03849	0.494:0.0:0.2736:0.2324	.	195;195	P35663;F5H4V5	CYLC1_HUMAN;.	F	195	ENSP00000331556:C195F	ENSP00000331556:C195F	C	+	2	0	CYLC1	83014956	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.974000	0.29436	-0.079000	0.12707	-0.403000	0.06358	TGT		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		15	40	1	0	7.93312e-07	1	8.09839e-07	15	40				
SLC9C2	284525	broad.mit.edu	37	1	173526585	173526585	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:173526585C>T	ENST00000367714.3	-	10	1531	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R268Q|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	370					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AACTCCCCATCGCCAATTATA	0.368																																						ENST00000367714.3																			0											c.(1108-1110)cGa>cAa		solute carrier family 9, member C2 (putative)							133.0	143.0	140.0					1																	173526585		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526585C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1109G>A	1.37:g.173526585C>T	ENSP00000356687:p.Arg370Gln					SLC9C2_ENST00000536496.1_Missense_Mutation_p.R268Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	p.R370Q	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1531	-			370					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1109G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616683	0.28801	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.21191	2.02;2.02	5.57	0.399	0.16325	Cation/H+ exchanger (1);	0.376195	0.22386	N	0.060749	T	0.08582	0.0213	M	0.65498	2.005	0.20196	N	0.999921	B	0.29115	0.233	B	0.30316	0.114	T	0.22836	-1.0205	10	0.45353	T	0.12	-2.9841	8.0643	0.30651	0.0:0.566:0.0:0.434	.	370	Q5TAH2	S9A11_HUMAN	Q	370;268	ENSP00000356687:R370Q;ENSP00000445437:R268Q	ENSP00000356687:R370Q	R	-	2	0	SLC9A11	171793208	0.042000	0.20092	0.528000	0.27938	0.130000	0.20726	-0.614000	0.05604	-0.168000	0.10853	-0.218000	0.12543	CGA		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		45	104	0	0	0	1	0	45	104				
MEST	4232	broad.mit.edu	37	7	130138088	130138088	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:130138088G>A	ENST00000223215.4	+	5	669	c.448G>A	c.(448-450)Gat>Aat	p.D150N	MIR335_ENST00000362173.1_RNA|MEST_ENST00000378576.4_Missense_Mutation_p.D141N|MEST_ENST00000416162.2_Missense_Mutation_p.D141N|MEST_ENST00000393187.1_Missense_Mutation_p.D141N|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.D150N|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000341441.5_Missense_Mutation_p.D141N	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	150					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGACTATGGAGATATTGTTGC	0.463																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(448-450)Gat>Aat		mesoderm specific transcript							93.0	95.0	94.0					7																	130138088		2203	4300	6503	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130138088G>A		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.448G>A	7.37:g.130138088G>A	ENSP00000223215:p.Asp150Asn					MEST_ENST00000437945.1_Missense_Mutation_p.D150N|MEST_ENST00000393187.1_Missense_Mutation_p.D141N|MEST_ENST00000378576.4_Missense_Mutation_p.D141N|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000341441.4_Missense_Mutation_p.D141N|MEST_ENST00000416162.2_Missense_Mutation_p.D141N	p.D150N	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			5	669	+	Melanoma(18;0.0435)		150					B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.448G>A	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136784	0.94517	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000458161	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.19	5.19	0.71726	.	0.094208	0.64402	D	0.000001	D	0.83271	0.5218	M	0.82323	2.585	0.80722	D	1	P;D;D;D	0.89917	0.943;1.0;1.0;1.0	P;D;D;D	0.97110	0.733;0.999;0.999;1.0	D	0.84177	0.0437	10	0.48119	T	0.1	-17.2341	18.0339	0.89293	0.0:0.0:1.0:0.0	.	136;150;150;141	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	N	141;141;141;141;141;141;141;150;150;141	ENSP00000342749:D141N;ENSP00000409505:D141N;ENSP00000408933:D141N;ENSP00000367839:D141N;ENSP00000409768:D141N;ENSP00000376884:D141N;ENSP00000407222:D141N;ENSP00000223215:D150N;ENSP00000401657:D150N	ENSP00000223215:D150N	D	+	1	0	MEST	129925324	1.000000	0.71417	0.645000	0.29479	0.886000	0.51366	9.231000	0.95317	2.576000	0.86940	0.561000	0.74099	GAT		0.463	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		28	52	0	0	0	1	0	28	52				
PLEKHM1P	440456	broad.mit.edu	37	17	62818136	62818136	+	RNA	SNP	G	G	C	rs200037995		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:62818136G>C	ENST00000582986.1	-	0	362					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CTGAAGAATGGGAAATGGAAT	0.572																																						ENST00000582986.1																			0																																																			0							g.chr17:62818136G>C			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62818136G>C								NR_024386.1						0	362	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.572	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		6	32	0	0	0	1	0	6	32				
SLC27A3	11000	broad.mit.edu	37	1	153748614	153748615	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:153748614_153748615delGC	ENST00000368661.3	+	1	847_848	c.782_783delGC	c.(781-783)ggcfs	p.G261fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.G342fs	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	261					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCAGCTGCGGCGCGCGCGCGC	0.718																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1024-1026)gfs		solute carrier family 27 (fatty acid transporter), member 3				26,2210		5,16,1097						2.7	1.0			3	69,5013		8,53,2480	no	frameshift	SLC27A3	NM_024330.1		13,69,3577	A1A1,A1R,RR		1.3577,1.1628,1.2982				95,7223				SO:0001589	frameshift_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153748614_153748615delGC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.782_783delGC	1.37:g.153748624_153748625delGC	ENSP00000357650:p.Gly261fs					SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs|SLC27A3_ENST00000484014.1_3'UTR	p.G342fs			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1785_1786	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		261					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	ENST00000368661.3	37	c.1025_1026delGC	CCDS1053.1																																																																																				0.718	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		2	4						2	4	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14096906	14096906	+	RNA	DEL	A	A	-			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr11:14096906delA	ENST00000310358.7	+	0	1032							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGCATCGTACAAAAACGCATT	0.517																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							65.0	61.0	62.0					11																	14096906		1921	4103	6024			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14096906delA	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14096906delA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1032	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.517	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		2	4						2	4	---	---	---	---
TMOD2	29767	broad.mit.edu	37	15	52060571	52060574	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr15:52060571_52060574delAGAA	ENST00000249700.4	+	3	460_463	c.239_242delAGAA	c.(238-243)cagaaafs	p.QK80fs	TMOD2_ENST00000539962.2_Frame_Shift_Del_p.QK36fs|TMOD2_ENST00000435126.2_Frame_Shift_Del_p.QK80fs	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	80					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GCTTTGGAACAGAAAGACAGAGAG	0.505																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(238-243)cafs		tropomodulin 2 (neuronal)																																				SO:0001589	frameshift_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52060571_52060574delAGAA	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.239_242delAGAA	15.37:g.52060571_52060574delAGAA	ENSP00000249700:p.Gln80fs					TMOD2_ENST00000539962.2_Frame_Shift_Del_p.QK36fs|TMOD2_ENST00000435126.2_Frame_Shift_Del_p.QK80fs	p.QK80fs	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	3	460_463	+			80					B4DEW6	Frame_Shift_Del	DEL	ENST00000249700.4	37	c.239_242delAGAA	CCDS10144.1																																																																																				0.505	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			9	48						9	48	---	---	---	---
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667	byFrequency	TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621									nuclear pore complex interacting protein family, member B1, pseudogene																		CTCTTCCCCCGAAAAATGACAA	0.401													aaaaaa|AAAAA|AAAAAA|deletion	3507	0.70028	0.3805	0.8501	5008	,	,		12701	0.8056		0.7843	False		,,,				2504	0.8313					ENST00000547442.1																			0																																																			0							g.chr18:11625378_11625379insA			18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11625383_11625383dupA														0	621	-									RNA	INS	ENST00000547442.1	37																																																																																						0.401	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000409451.1	NG_023368		2	4						2	4	---	---	---	---
