#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
RPRD1A	55197	broad.mit.edu	37	18	33606928	33606928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:33606928G>A	ENST00000399022.4	-	6	895	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RPRD1A_ENST00000590898.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000337059.5_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000319040.6_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000357384.4_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000588737.1_Nonsense_Mutation_p.R206*	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	242					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R242R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTAACATTCGAGTGAGTTGC	0.403																																						ENST00000399022.4																			1	Substitution - coding silent(1)	p.R242R(1)	urinary_tract(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(724-726)Cga>Tga		regulation of nuclear pre-mRNA domain containing 1A							81.0	78.0	79.0					18																	33606928		2203	4300	6503	SO:0001587	stop_gained	55197							g.chr18:33606928G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.724C>T	18.37:g.33606928G>A	ENSP00000381984:p.Arg242*					RPRD1A_ENST00000590898.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000357384.4_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000588737.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000319040.6_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000337059.5_Nonsense_Mutation_p.R206*	p.R242*	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			6	895	-			242					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Nonsense_Mutation	SNP	ENST00000399022.4	37	c.724C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	37	6.297262	0.97453	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1272	16.6336	0.85040	0.0:0.0:1.0:0.0	.	.	.	.	X	242;242;206;242	.	ENSP00000314602:R242X	R	-	1	2	RPRD1A	31860926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.788000	0.85771	2.583000	0.87209	0.650000	0.86243	CGA		0.403	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		6	98	0	0	0	0.217242	0	6	98				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	0	0	0	0.150653	0	3	10				
S1PR5	53637	broad.mit.edu	37	19	10625003	10625003	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:10625003G>A	ENST00000439028.3	-	2	810	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	S1PR5_ENST00000333430.4_Missense_Mutation_p.R229W	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	229					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GTCCCGGGCCGTGCCGGCAGG	0.716																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(685-687)Cgg>Tgg		sphingosine-1-phosphate receptor 5							6.0	7.0	7.0					19																	10625003		2075	4058	6133	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625003G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.685C>T	19.37:g.10625003G>A	ENSP00000416915:p.Arg229Trp					S1PR5_ENST00000333430.4_Missense_Mutation_p.R229W	p.R229W	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	810	-			229					Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.685C>T	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377125	0.24944	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	T;T	0.72725	-0.68;-0.68	2.05	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.69735	0.3144	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.48141	0.568	T	0.61217	-0.7107	9	0.87932	D	0	.	7.6273	0.28220	0.0:0.0:1.0:0.0	.	229	Q9H228	S1PR5_HUMAN	W	229	ENSP00000416915:R229W;ENSP00000328472:R229W	ENSP00000328472:R229W	R	-	1	2	S1PR5	10486003	0.000000	0.05858	0.017000	0.16124	0.002000	0.02628	-0.083000	0.11286	1.447000	0.47661	0.491000	0.48974	CGG		0.716	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		2	1	0	0	0	0.115264	0	2	1				
DOCK6	57572	broad.mit.edu	37	19	11333436	11333436	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:11333436G>C	ENST00000294618.7	-	26	3226	c.3215C>G	c.(3214-3216)cCc>cGc	p.P1072R	DOCK6_ENST00000319867.7_Missense_Mutation_p.P411R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1072					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGACACAGAGGGGGAGGGCGA	0.612																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3214-3216)cCc>cGc		dedicator of cytokinesis 6							24.0	32.0	29.0					19																	11333436		2157	4258	6415	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11333436G>C		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3215C>G	19.37:g.11333436G>C	ENSP00000294618:p.Pro1072Arg					DOCK6_ENST00000319867.7_Missense_Mutation_p.P411R	p.P1072R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			26	3226	-			1072					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.3215C>G	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356231	0.82243	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25414	1.8;1.8	5.05	5.05	0.67936	.	0.064525	0.64402	D	0.000006	T	0.55561	0.1928	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.889	T	0.62618	-0.6816	10	0.72032	D	0.01	-30.5412	17.1588	0.86798	0.0:0.0:1.0:0.0	.	411;1072	C9IZV6;Q96HP0	.;DOCK6_HUMAN	R	1072;411	ENSP00000294618:P1072R;ENSP00000321556:P411R	ENSP00000294618:P1072R	P	-	2	0	DOCK6	11194436	1.000000	0.71417	0.971000	0.41717	0.808000	0.45660	9.173000	0.94815	2.347000	0.79759	0.491000	0.48974	CCC		0.612	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	3	0	0	0	0.150653	0	3	3				
FBXO18	84893	broad.mit.edu	37	10	5948520	5948520	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:5948520C>T	ENST00000362091.4	+	3	793	c.678C>T	c.(676-678)ttC>ttT	p.F226F	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Silent_p.F277F|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	226					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTTTGCCTTCCTCCCGGTGG	0.572																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(829-831)ttC>ttT		F-box protein, helicase, 18							87.0	75.0	79.0					10																	5948520		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948520C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.678C>T	10.37:g.5948520C>T						FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Silent_p.F226F	p.F277F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	935	+			226					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.831C>T	CCDS7072.1																																																																																				0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		7	142	0	0	0	0.278610	0	7	142				
ZNF564	163050	broad.mit.edu	37	19	12637690	12637690	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:12637690T>A	ENST00000339282.7	-	4	1428	c.1232A>T	c.(1231-1233)cAc>cTc	p.H411L	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTTCTTTCGTGTATTTGAAA	0.408																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1231-1233)cAc>cTc		zinc finger protein 564							133.0	139.0	137.0					19																	12637690		2201	4300	6501	SO:0001583	missense	163050							g.chr19:12637690T>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1232A>T	19.37:g.12637690T>A	ENSP00000340004:p.His411Leu					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.H411L	NM_144976.3	NP_659413.1					4	1428	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1232A>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712696	0.89112	.	.	ENSG00000249709	ENST00000339282	D	0.86865	-2.18	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95143	0.8426	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94489	0.7700	9	0.87932	D	0	.	9.2196	0.37368	0.0:0.0:0.0:1.0	.	411	Q8TBZ8	ZN564_HUMAN	L	411	ENSP00000340004:H411L	ENSP00000340004:H411L	H	-	2	0	ZNF564	12498690	1.000000	0.71417	0.015000	0.15790	0.967000	0.64934	6.234000	0.72326	1.167000	0.42706	0.523000	0.50628	CAC		0.408	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		26	246	0	0	0	0.681144	0	26	246				
THAP9	79725	broad.mit.edu	37	4	83838413	83838413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr4:83838413C>T	ENST00000302236.5	+	5	1099	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	350					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TGGATATTTGCAGGCTCAGCT	0.423																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(1048-1050)Cag>Tag		THAP domain containing 9							93.0	94.0	94.0					4																	83838413		2203	4300	6503	SO:0001587	stop_gained	79725						DNA binding|metal ion binding	g.chr4:83838413C>T	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1048C>T	4.37:g.83838413C>T	ENSP00000305533:p.Gln350*					LIN54_ENST00000505905.1_Intron	p.Q350*	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	1099	+		Hepatocellular(203;0.114)	350					B3KRE2|Q59AC9	Nonsense_Mutation	SNP	ENST00000302236.5	37	c.1048C>T	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613689	0.28712	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	.	.	.	3.6	3.6	0.41247	.	0.000000	0.36444	N	0.002589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0039	13.5587	0.61775	0.0:1.0:0.0:0.0	.	.	.	.	X	350	.	ENSP00000305533:Q350X	Q	+	1	0	THAP9	84057437	0.984000	0.35163	1.000000	0.80357	0.192000	0.23643	2.881000	0.48538	2.310000	0.77875	0.650000	0.86243	CAG		0.423	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		4	204	0	0	0	0.150653	0	4	204				
SARDH	1757	broad.mit.edu	37	9	136529067	136529067	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:136529067C>T	ENST00000371872.4	-	21	2958	c.2701G>A	c.(2701-2703)Gct>Act	p.A901T	SARDH_ENST00000422262.2_Missense_Mutation_p.A733T|SARDH_ENST00000439388.1_Missense_Mutation_p.A901T|SARDH_ENST00000469828.1_5'Flank|SARDH_ENST00000371868.1_Missense_Mutation_p.A351T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	901					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTCAGGTGAGCCTGGGCACCA	0.577																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2701-2703)Gct>Act		sarcosine dehydrogenase							173.0	132.0	146.0					9																	136529067		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529067C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2701G>A	9.37:g.136529067C>T	ENSP00000360938:p.Ala901Thr					SARDH_ENST00000439388.1_Missense_Mutation_p.A901T|SARDH_ENST00000422262.2_Missense_Mutation_p.A733T|SARDH_ENST00000371868.1_Missense_Mutation_p.A351T	p.A901T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	21	2958	-			901					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2701G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043856	0.36085	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.81247	-0.7;-1.47;-0.7;-1.1	4.69	4.69	0.59074	.	0.063397	0.64402	D	0.000006	T	0.81678	0.4873	M	0.74881	2.28	0.80722	D	1	B;B	0.31485	0.325;0.325	B;B	0.32677	0.075;0.15	D	0.83484	0.0066	10	0.66056	D	0.02	-4.0099	17.5989	0.88020	0.0:1.0:0.0:0.0	.	901;351	Q9UL12;Q5SYV2	SARDH_HUMAN;.	T	901;351;901;733	ENSP00000360938:A901T;ENSP00000360934:A351T;ENSP00000403084:A901T;ENSP00000415537:A733T	ENSP00000360934:A351T	A	-	1	0	SARDH	135518888	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	6.779000	0.75057	2.337000	0.79520	0.561000	0.74099	GCT		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	140	0	0	0	0.278610	0	7	140				
APPL1	26060	broad.mit.edu	37	3	57301791	57301791	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:57301791G>A	ENST00000288266.3	+	20	2011	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	622	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGTTGGACTGGCAAAACAGAT	0.428																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1864-1866)Gca>Aca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							157.0	148.0	151.0					3																	57301791		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57301791G>A	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1864G>A	3.37:g.57301791G>A	ENSP00000288266:p.Ala622Thr						p.A622T	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	20	2011	+			622			PID.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.1864G>A	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514238	0.96402	.	.	ENSG00000157500	ENST00000288266	T	0.34472	1.36	5.52	5.52	0.82312	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.63629	-0.6594	10	0.87932	D	0	-23.9392	19.4335	0.94781	0.0:0.0:1.0:0.0	.	605;622	B4DQX8;Q9UKG1	.;DP13A_HUMAN	T	622	ENSP00000288266:A622T	ENSP00000288266:A622T	A	+	1	0	APPL1	57276831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.342000	0.90049	2.583000	0.87209	0.555000	0.69702	GCA		0.428	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		4	98	0	0	0	0.150653	0	4	98				
TRAF3IP3	80342	broad.mit.edu	37	1	209933458	209933458	+	Missense_Mutation	SNP	G	G	C	rs372493792	byFrequency	TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:209933458G>C	ENST00000367024.1	+	3	590	c.74G>C	c.(73-75)cGc>cCc	p.R25P	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R25P			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	25						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGTGTGAGCGCAGGCAAGAG	0.627																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(73-75)cGc>cCc		TRAF3 interacting protein 3							32.0	33.0	32.0					1																	209933458		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933458G>C		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.74G>C	1.37:g.209933458G>C	ENSP00000355991:p.Arg25Pro					TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R25P	p.R25P			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	590	+			25					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.74G>C	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598904	0.87055	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000479796;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.70749	-0.51;0.45;-0.36;0.45;-0.36	5.66	5.66	0.87406	.	0.149239	0.38548	N	0.001642	D	0.82628	0.5078	M	0.67953	2.075	0.45899	D	0.998746	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.83973	0.0328	10	0.87932	D	0	-11.3909	15.2561	0.73585	0.0:0.0:1.0:0.0	.	25;25;25;25	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	P	25	ENSP00000383743:R25P;ENSP00000355992:R25P;ENSP00000355993:R25P;ENSP00000355991:R25P;ENSP00000010338:R25P	ENSP00000010338:R25P	R	+	2	0	TRAF3IP3	208000081	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.941000	0.63540	2.665000	0.90641	0.655000	0.94253	CGC		0.627	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			4	49	0	0	0	0.150653	0	4	49				
TOR1A	1861	broad.mit.edu	37	9	132584984	132584984	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:132584984C>T	ENST00000351698.4	-	2	368	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	107	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.G107D(4)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GAAATTTTTGCCGGTGCCTGT	0.468																																						ENST00000351698.4																			4	Substitution - Missense(4)	p.G107D(4)	kidney(3)|lung(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(319-321)gGc>gAc		torsin family 1, member A (torsin A)							226.0	200.0	209.0					9																	132584984		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584984C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.320G>A	9.37:g.132584984C>T	ENSP00000345719:p.Gly107Asp					TOR1A_ENST00000473084.1_5'UTR	p.G107D	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			2	368	-		Ovarian(14;0.00556)	107					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.320G>A	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838232	0.71373	.	.	ENSG00000136827	ENST00000351698	D	0.92099	-2.97	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98397	1.0566	10	0.87932	D	0	-8.4354	17.7332	0.88384	0.0:1.0:0.0:0.0	.	107;107	O14656-2;O14656	.;TOR1A_HUMAN	D	107	ENSP00000345719:G107D	ENSP00000345719:G107D	G	-	2	0	TOR1A	131624805	1.000000	0.71417	0.995000	0.50966	0.072000	0.16883	7.484000	0.81180	2.439000	0.82584	0.561000	0.74099	GGC		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		5	350	0	0	0	0.217242	0	5	350				
TGDS	23483	broad.mit.edu	37	13	95248340	95248340	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:95248340C>T	ENST00000261296.5	-	1	171	c.51G>A	c.(49-51)gcG>gcA	p.A17A	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	17					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGACCCGCTTCGCAAAGCCGC	0.607																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(49-51)gcG>gcA		TDP-glucose 4,6-dehydratase							39.0	41.0	40.0					13																	95248340		2203	4300	6503	SO:0001819	synonymous_variant	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95248340C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.51G>A	13.37:g.95248340C>T						TGDS_ENST00000498294.1_5'UTR	p.A17A	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			1	171	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		17					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Silent	SNP	ENST00000261296.5	37	c.51G>A	CCDS9471.1																																																																																				0.607	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		23	25	0	0	0	0.717897	0	23	25				
TDRD7	23424	broad.mit.edu	37	9	100245294	100245294	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:100245294C>T	ENST00000355295.4	+	15	2871	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	TDRD7_ENST00000540902.1_Missense_Mutation_p.S179F|TDRD7_ENST00000422139.2_Missense_Mutation_p.S785F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	859					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGAGCTGACTCTCCCAACAGC	0.463																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2575-2577)tCt>tTt		tudor domain containing 7							82.0	77.0	79.0					9																	100245294		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100245294C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2576C>T	9.37:g.100245294C>T	ENSP00000347444:p.Ser859Phe					TDRD7_ENST00000422139.2_Missense_Mutation_p.S785F|TDRD7_ENST00000540902.1_Missense_Mutation_p.S179F	p.S859F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			15	2871	+		Acute lymphoblastic leukemia(62;0.158)	859					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.2576C>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387522	0.25031	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.24151	2.65;2.65;1.87	5.44	4.5	0.54988	.	0.734758	0.13008	N	0.421118	T	0.20941	0.0504	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.002;0.009;0.002	B;B;B	0.18561	0.006;0.022;0.003	T	0.13202	-1.0518	10	0.39692	T	0.17	-5.7087	8.9495	0.35781	0.0:0.8177:0.0:0.1823	.	179;785;859	Q8NHU6-3;Q8NHU6-2;Q8NHU6	.;.;TDRD7_HUMAN	F	859;785;179	ENSP00000347444:S859F;ENSP00000413608:S785F;ENSP00000440717:S179F	ENSP00000347444:S859F	S	+	2	0	TDRD7	99285115	0.000000	0.05858	0.170000	0.22879	0.610000	0.37248	0.522000	0.22909	1.539000	0.49286	0.650000	0.86243	TCT		0.463	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		40	51	0	0	0	0.819951	0	40	51				
NLRP9	338321	broad.mit.edu	37	19	56249479	56249479	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:56249479C>A	ENST00000332836.2	-	1	289	c.262G>T	c.(262-264)Gct>Tct	p.A88S	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	88	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCCTGAGCCTTTGTCCAG	0.498																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(262-264)Gct>Tct		NLR family, pyrin domain containing 9							490.0	488.0	488.0					19																	56249479		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56249479C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.262G>T	19.37:g.56249479C>A	ENSP00000331857:p.Ala88Ser						p.A88S	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	289	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	88			DAPIN.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.262G>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940708	0.73557	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52295	0.67	3.41	3.41	0.39046	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.69691	0.3139	M	0.87617	2.895	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.58423	-0.7639	9	0.59425	D	0.04	.	10.6867	0.45848	0.0:1.0:0.0:0.0	.	88	Q7RTR0	NALP9_HUMAN	S	88	ENSP00000331857:A88S	ENSP00000331857:A88S	A	-	1	0	NLRP9	60941291	0.100000	0.21855	0.134000	0.22075	0.734000	0.41952	1.206000	0.32321	2.246000	0.74042	0.650000	0.86243	GCT		0.498	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		13	1080	1	0	0.00136819	0.411799	0.00166853	13	1080				
POMT2	29954	broad.mit.edu	37	14	77778367	77778367	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778367C>T	ENST00000261534.4	-	2	460	c.258G>A	c.(256-258)gaG>gaA	p.E86E		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	86						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAAAGTGAGTCTCATCCCAAC	0.373																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(256-258)gaG>gaA		protein-O-mannosyltransferase 2							54.0	55.0	55.0					14																	77778367		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77778367C>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.258G>A	14.37:g.77778367C>T							p.E86E	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	2	460	-			86					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.258G>A	CCDS9857.1																																																																																				0.373	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		20	36	0	0	0	0.608945	0	20	36				
JMJD1C	221037	broad.mit.edu	37	10	64967027	64967027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:64967027G>A	ENST00000399262.2	-	10	4620	c.4402C>T	c.(4402-4404)Caa>Taa	p.Q1468*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1286*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q1249*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1468					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAACTGGGTTGAACAACACTT	0.433																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4402-4404)Caa>Taa		jumonji domain containing 1C							99.0	98.0	99.0					10																	64967027		1973	4179	6152	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967027G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4402C>T	10.37:g.64967027G>A	ENSP00000382204:p.Gln1468*					JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1286*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1249*	p.Q1468*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	4620	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1468					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.4402C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	49	14.964999	0.99817	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.6	5.6	0.85130	.	0.362700	0.31041	N	0.008373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.5211	19.6028	0.95570	0.0:0.0:1.0:0.0	.	.	.	.	X	1468;1249;1249;1286	.	ENSP00000382195:Q1249X	Q	-	1	0	JMJD1C	64637033	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	9.520000	0.98027	2.648000	0.89879	0.591000	0.81541	CAA		0.433	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		76	98	0	0	0	0.870114	0	76	98				
ZFAND5	7763	broad.mit.edu	37	9	74971943	74971943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:74971943G>A	ENST00000237937.3	-	5	954	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	133					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q133*(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTACTGGGCTGAGAAACTGAT	0.383																																						ENST00000237937.3																			1	Substitution - Nonsense(1)	p.Q133*(1)	kidney(1)	cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(397-399)Cag>Tag		zinc finger, AN1-type domain 5							109.0	100.0	103.0					9																	74971943		2203	4299	6502	SO:0001587	stop_gained	0						DNA binding|zinc ion binding	g.chr9:74971943G>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.397C>T	9.37:g.74971943G>A	ENSP00000237937:p.Gln133*					ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*	p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			5	954	-			133					A8K484	Nonsense_Mutation	SNP	ENST00000237937.3	37	c.397C>T	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	G	40	8.252544	0.98727	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.377447	0.33092	N	0.005282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-4.3916	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;133;185	.	ENSP00000237937:Q133X	Q	-	1	0	ZFAND5	74161763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.747000	0.47475	2.941000	0.99782	0.655000	0.94253	CAG		0.383	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			35	51	0	0	0	0.788014	0	35	51				
RIOK2	55781	broad.mit.edu	37	5	96498929	96498929	+	Splice_Site	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr5:96498929C>T	ENST00000283109.3	-	10	1563	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	499	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTCACCAGTTCCTGGAAAGAT	0.328																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.e10-1		RIO kinase 2							90.0	81.0	84.0					5																	96498929		2202	4299	6501	SO:0001630	splice_region_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96498929C>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1495-1G>A	5.37:g.96498929C>T						CTD-2215E18.1_ENST00000509481.1_Intron	p.E499_splice	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	10	1563	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	499			Protein kinase.		D6RDI3|Q9NUT0	Splice_Site	SNP	ENST00000283109.3	37	c.1494_splice	CCDS4089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699654|4.699654	0.88830|0.88830	.|.	.|.	ENSG00000058729|ENSG00000058729	ENST00000283109|ENST00000511293	T|.	0.25579|.	1.79|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.148942|.	0.64402|.	D|.	0.000017|.	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.49961|.	0.93|.	B|.	0.38985|.	0.287|.	T|T	0.67273|0.67273	-0.5712|-0.5712	10|5	0.46703|.	T|.	0.11|.	-7.7547|-7.7547	14.758|14.758	0.69583|0.69583	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	499|.	Q9BVS4|.	RIOK2_HUMAN|.	K|K	499|105	ENSP00000283109:E499K|.	ENSP00000283109:E499K|.	E|R	-|-	1|2	0|0	RIOK2|RIOK2	96524685|96524685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.691000|5.691000	0.68249|0.68249	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.328	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343	Missense_Mutation	39	49	0	0	0	0.812448	0	39	49				
ATP10A	57194	broad.mit.edu	37	15	26107935	26107935	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr15:26107935C>T	ENST00000356865.6	-	1	420	c.309G>A	c.(307-309)gtG>gtA	p.V103V	ATP10A_ENST00000553577.1_5'Flank|RP11-2C7.1_ENST00000557558.1_lincRNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	103					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGGCGTTCACCGCCGGCA	0.652																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(307-309)gtG>gtA		ATPase, class V, type 10A							55.0	44.0	48.0					15																	26107935		2202	4298	6500	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26107935C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.309G>A	15.37:g.26107935C>T							p.V103V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	1	420	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	103					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.309G>A	CCDS32178.1																																																																																				0.652	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		6	14	0	0	0	0.307466	0	6	14				
MOS	4342	broad.mit.edu	37	8	57026479	57026479	+	Silent	SNP	C	C	T	rs374238566		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:57026479C>T	ENST00000311923.1	-	1	62	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	21					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.A21A(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCAGGGCCGCGCGTCCACCG	0.706																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			1	Substitution - coding silent(1)	p.A21A(1)	lung(1)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(61-63)gcG>gcA		v-mos Moloney murine sarcoma viral oncogene homolog		C		2,4394		0,2,2196	17.0	20.0	19.0		63	-1.6	0.4	8		19	0,8584		0,0,4292	no	coding-synonymous	MOS	NM_005372.1		0,2,6488	TT,TC,CC		0.0,0.0455,0.0154		21/347	57026479	2,12978	2198	4292	6490	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026479C>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.63G>A	8.37:g.57026479C>T							p.A21A	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	62	-			21					Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.63G>A	CCDS6164.1																																																																																				0.706	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		23	36	0	0	0	0.624587	0	23	36				
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98.0	107.0	104.0					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		4	178	0	0	0	0.184627	0	4	178				
POMT2	29954	broad.mit.edu	37	14	77778315	77778315	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778315C>G	ENST00000261534.4	-	2	512	c.310G>C	c.(310-312)Gat>Cat	p.D104H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	104						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGTGCACATCAAAGAAAAAT	0.433																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(310-312)Gat>Cat		protein-O-mannosyltransferase 2							54.0	55.0	55.0					14																	77778315		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77778315C>G	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.310G>C	14.37:g.77778315C>G	ENSP00000261534:p.Asp104His						p.D104H	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	2	512	-			104					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.310G>C	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049709	0.93740	.	.	ENSG00000009830	ENST00000261534;ENST00000554948	D;D	0.88046	-2.33;-2.33	5.86	5.86	0.93980	Glycosyl transferase, family 39 (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97249	0.9896	10	0.87932	D	0	-16.6486	19.7736	0.96383	0.0:1.0:0.0:0.0	.	104	Q9UKY4	POMT2_HUMAN	H	104;13	ENSP00000261534:D104H;ENSP00000452060:D13H	ENSP00000261534:D104H	D	-	1	0	POMT2	76848068	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.130000	0.77235	2.773000	0.95371	0.655000	0.94253	GAT		0.433	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		15	41	0	0	0	0.520397	0	15	41				
LPAR6	10161	broad.mit.edu	37	13	48985608	48985608	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:48985608C>T	ENST00000378434.4	-	7	2576	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.E318K	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						CCATGAACTTCAGAGAATCTG	0.343																																						ENST00000378434.4																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(952-954)Gaa>Aaa		lysophosphatidic acid receptor 6							78.0	83.0	81.0					13																	48985608		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985608C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.952G>A	13.37:g.48985608C>T	ENSP00000367691:p.Glu318Lys					LPAR6_ENST00000345941.2_Missense_Mutation_p.E318K|RB1_ENST00000267163.4_Intron	p.E318K	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN			7	2576	-			318					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.952G>A	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196993	0.38806	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.63580	-0.05;-0.05	5.46	5.46	0.80206	.	0.234774	0.41097	D	0.000958	T	0.39091	0.1065	N	0.08118	0	0.48087	D	0.999581	B	0.10296	0.003	B	0.08055	0.003	T	0.31668	-0.9935	10	0.09084	T	0.74	.	13.919	0.63919	0.0:0.9269:0.0:0.0731	.	318	P43657	LPAR6_HUMAN	K	318	ENSP00000367691:E318K;ENSP00000344353:E318K	ENSP00000344353:E318K	E	-	1	0	LPAR6	47883609	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.760000	0.55235	2.713000	0.92767	0.455000	0.32223	GAA		0.343	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		66	87	0	0	0	0.870114	0	66	87				
LMAN2L	81562	broad.mit.edu	37	2	97405604	97405604	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:97405604C>T	ENST00000264963.4	-	1	196	c.174G>A	c.(172-174)tcG>tcA	p.S58S	LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	58	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTAGGGCTTCGACAGCGAGT	0.627																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(172-174)tcG>tcA		lectin, mannose-binding 2-like							65.0	62.0	63.0					2																	97405604		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97405604C>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.174G>A	2.37:g.97405604C>T						LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S	p.S58S	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			1	196	-			58			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.174G>A	CCDS2023.1																																																																																				0.627	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		33	51	0	0	0	0.788014	0	33	51				
ZFYVE20	64145	broad.mit.edu	37	3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	rs147577833	byFrequency	TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				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						TTTCAGGATGCGGGCTGAAGG	0.562																																						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.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121.0	122.0	122.0					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>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.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		5	309	0	0	0	0.184627	0	5	309				
FAM84A	151354	broad.mit.edu	37	2	14774447	14774447	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:14774447C>T	ENST00000295092.2	+	2	632	c.344C>T	c.(343-345)gCg>gTg	p.A115V	FAM84A_ENST00000331243.4_Missense_Mutation_p.A115V|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	115										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GCGGTCACCGCGCTGCCAGCG	0.692																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(343-345)gCg>gTg		family with sequence similarity 84, member A							8.0	9.0	9.0					2																	14774447		2155	4213	6368	SO:0001583	missense	151354							g.chr2:14774447C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.344C>T	2.37:g.14774447C>T	ENSP00000295092:p.Ala115Val					FAM84A_ENST00000331243.4_Missense_Mutation_p.A115V	p.A115V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	632	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		115					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.344C>T	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570217	0.65765	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.03607	3.87;3.87	4.96	4.96	0.65561	.	0.165665	0.53938	D	0.000052	T	0.03263	0.0095	L	0.29908	0.895	0.41696	D	0.989373	P	0.47604	0.898	B	0.35727	0.209	T	0.56517	-0.7966	10	0.45353	T	0.12	-22.5188	13.3278	0.60469	0.0:0.8415:0.1585:0.0	.	115	Q96KN4	FA84A_HUMAN	V	115	ENSP00000295092:A115V;ENSP00000330681:A115V	ENSP00000295092:A115V	A	+	2	0	FAM84A	14691898	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.426000	0.82243	0.655000	0.94253	GCG		0.692	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		5	14	0	0	0	0.184627	0	5	14				
OVGP1	5016	broad.mit.edu	37	1	111965622	111965622	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:111965622G>C	ENST00000369732.3	-	6	590	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Missense_Mutation_p.L119V	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	179					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACAGCAGCAGCCTCGGGCGC	0.542																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(535-537)Ctg>Gtg		oviductal glycoprotein 1, 120kDa							143.0	138.0	140.0					1																	111965622		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965622G>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.535C>G	1.37:g.111965622G>C	ENSP00000358747:p.Leu179Val					OVGP1_ENST00000540696.1_Missense_Mutation_p.L119V|OVGP1_ENST00000481495.1_5'UTR	p.L179V	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	590	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	179					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.535C>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453217	0.63290	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.06371	3.31;3.31	4.74	4.74	0.60224	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.20333	0.0489	M	0.87381	2.88	0.44523	D	0.997474	P;D	0.76494	0.877;0.999	D;D	0.87578	0.912;0.998	T	0.01561	-1.1324	10	0.87932	D	0	-4.9683	13.2091	0.59815	0.0:0.0:1.0:0.0	.	179;243	Q12889;Q59HH5	OVGP1_HUMAN;.	V	179;243;119	ENSP00000358747:L179V;ENSP00000438449:L119V	ENSP00000358743:L243V	L	-	1	2	OVGP1	111767145	0.996000	0.38824	0.996000	0.52242	0.616000	0.37450	2.458000	0.45014	2.176000	0.68965	0.591000	0.81541	CTG		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		110	106	0	0	0	0.870114	0	110	106				
SPIB	6689	broad.mit.edu	37	19	50931366	50931366	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:50931366G>A	ENST00000595883.1	+	6	587	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000596074.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.R322H|SPIB_ENST00000439922.2_Missense_Mutation_p.V97M|SPIB_ENST00000270632.7_3'UTR	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	188					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCGTGAGTGCGTGTGGTGGGT	0.682																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(562-564)Gtg>Atg		Spi-B transcription factor (Spi-1/PU.1 related)							24.0	30.0	28.0					19																	50931366		2189	4284	6473	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50931366G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.562G>A	19.37:g.50931366G>A	ENSP00000471921:p.Val188Met					SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000439922.2_Missense_Mutation_p.V97M	p.V188M	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	587	+		all_neural(266;0.131)	188					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.562G>A	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.970356	0.74246	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.26810	1.71	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.153067	0.29624	N	0.011640	T	0.35038	0.0918	L	0.29908	0.895	0.38694	D	0.952836	D;D	0.89917	1.0;1.0	D;D	0.75484	0.969;0.986	T	0.22591	-1.0212	10	0.87932	D	0	-6.0279	9.4174	0.38530	0.1013:0.0:0.8986:0.0	.	97;188	B4DUG6;Q01892	.;SPIB_HUMAN	M	188;97	ENSP00000391877:V97M	ENSP00000270632:V188M	V	+	1	0	SPIB	55623178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.183000	0.42565	2.267000	0.75376	0.561000	0.74099	GTG		0.682	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		3	3	0	0	0	0.184627	0	3	3				
VAPA	9218	broad.mit.edu	37	18	9950521	9950521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:9950521C>T	ENST00000400000.2	+	5	802	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	VAPA_ENST00000340541.4_Nonsense_Mutation_p.Q228*|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	183					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						TAAAAGACTTCAGGGAGAAAT	0.378																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(547-549)Cag>Tag		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							94.0	82.0	86.0					18																	9950521		1853	4092	5945	SO:0001587	stop_gained	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9950521C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.547C>T	18.37:g.9950521C>T	ENSP00000382880:p.Gln183*					VAPA_ENST00000340541.4_Nonsense_Mutation_p.Q228*|VAPA_ENST00000584796.1_3'UTR	p.Q183*	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			5	802	+			183					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Nonsense_Mutation	SNP	ENST00000400000.2	37	c.547C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	38	6.886032	0.97912	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0496	20.1272	0.97986	0.0:1.0:0.0:0.0	.	.	.	.	X	228;183	.	.	Q	+	1	0	VAPA	9940521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.499000	0.73683	2.828000	0.97474	0.655000	0.94253	CAG		0.378	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			47	41	0	0	0	0.870114	0	47	41				
TGFBR3	7049	broad.mit.edu	37	1	92200373	92200373	+	Silent	SNP	T	T	C			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:92200373T>C	ENST00000525962.1	-	4	589	c.528A>G	c.(526-528)gaA>gaG	p.E176E	TGFBR3_ENST00000370399.2_Silent_p.E176E|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000212355.4_Silent_p.E176E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	176					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTATCTTGAGTTCGGTGAATG	0.378																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(526-528)gaA>gaG		transforming growth factor, beta receptor III							179.0	182.0	181.0					1																	92200373		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200373T>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.528A>G	1.37:g.92200373T>C						TGFBR3_ENST00000525962.1_Silent_p.E176E|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.E176E	p.E176E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	5	993	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	176					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.528A>G	CCDS30770.1																																																																																				0.378	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		13	308	0	0	0	0.435327	0	13	308				
FFAR4	338557	broad.mit.edu	37	10	95326832	95326832	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:95326832A>G	ENST00000371483.4	+	1	411	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	FFAR4_ENST00000604414.1_Missense_Mutation_p.T119A|FFAR4_ENST00000371481.4_Missense_Mutation_p.T119A	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	119					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTACGTGATGACCCTGAGCGG	0.687																																						ENST00000371483.4																			0											c.(355-357)Acc>Gcc		free fatty acid receptor 4							34.0	33.0	33.0					10																	95326832		2203	4298	6501	SO:0001583	missense	338557							g.chr10:95326832A>G		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.355A>G	10.37:g.95326832A>G	ENSP00000360538:p.Thr119Ala					FFAR4_ENST00000604414.1_Missense_Mutation_p.T119A|FFAR4_ENST00000371481.4_Missense_Mutation_p.T119A	p.T119A	NM_181745.3	NP_859529.2					1	411	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.355A>G	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887611	0.33348	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.72167	-0.63;-0.63	5.22	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.570043	0.18631	N	0.135599	T	0.50205	0.1602	N	0.21194	0.64	0.24740	N	0.993044	B;B	0.28128	0.073;0.201	B;B	0.21360	0.02;0.034	T	0.25813	-1.0121	10	0.16420	T	0.52	-10.6404	10.548	0.45070	0.4934:0.0:0.0:0.5066	.	119;119	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	A	119	ENSP00000360536:T119A;ENSP00000360538:T119A	ENSP00000360536:T119A	T	+	1	0	O3FAR1	95316822	0.979000	0.34478	0.888000	0.34837	0.961000	0.63080	1.317000	0.33631	0.079000	0.16929	0.459000	0.35465	ACC		0.687	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		18	24	0	0	0	0.557998	0	18	24				
ZMYND15	84225	broad.mit.edu	37	17	4645341	4645341	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr17:4645341G>T	ENST00000433935.1	+	4	1016	c.959G>T	c.(958-960)aGc>aTc	p.S320I	ZMYND15_ENST00000269289.6_Missense_Mutation_p.S320I|ZMYND15_ENST00000592813.1_Missense_Mutation_p.S320I|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.S320I|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	320					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CACAGGCACAGCTTTGAAGCG	0.592																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(958-960)aGc>aTc		zinc finger, MYND-type containing 15							66.0	69.0	68.0					17																	4645341		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4645341G>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.959G>T	17.37:g.4645341G>T	ENSP00000391742:p.Ser320Ile					ZMYND15_ENST00000592813.1_Missense_Mutation_p.S320I|ZMYND15_ENST00000573751.2_Missense_Mutation_p.S320I|ZMYND15_ENST00000269289.6_Missense_Mutation_p.S320I	p.S320I	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			4	1016	+			320					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.959G>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785924	0.70337	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.47528	0.87;0.84	5.15	5.15	0.70609	Zinc finger, MYND-type (2);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	L	0.38175	1.15	0.37939	D	0.932253	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.993	T	0.62845	-0.6768	10	0.51188	T	0.08	-21.1645	16.1812	0.81903	0.0:0.0:1.0:0.0	.	320;320	B4DXY5;Q9H091	.;ZMY15_HUMAN	I	320	ENSP00000391742:S320I;ENSP00000269289:S320I	ENSP00000269289:S320I	S	+	2	0	ZMYND15	4592090	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.704000	0.54815	2.677000	0.91161	0.563000	0.77884	AGC		0.592	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		4	197	1	0	0.0293803	0.248553	0.0349766	4	197				
DGKG	1608	broad.mit.edu	37	3	185929649	185929649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:185929649C>A	ENST00000265022.3	-	21	2391	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	DGKG_ENST00000382164.4_Nonsense_Mutation_p.E579*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.E559*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.E593*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	618					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTGCCAAATTCAAAGTACCAC	0.453																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1852-1854)Gaa>Taa		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						121.0	116.0	118.0					3																	185929649		2203	4300	6503	SO:0001587	stop_gained	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185929649C>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1852G>T	3.37:g.185929649C>A	ENSP00000265022:p.Glu618*					DGKG_ENST00000382164.4_Nonsense_Mutation_p.E579*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.E593*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.E559*	p.E618*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	21	2391	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		618					B2RAH4|Q2M1H4|Q5FWG1	Nonsense_Mutation	SNP	ENST00000265022.3	37	c.1852G>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	45	11.886417	0.99614	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	.	.	.	5.93	5.93	0.95920	.	0.108349	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1151	0.93334	0.0:1.0:0.0:0.0	.	.	.	.	X	618;593;579;559;582	.	ENSP00000265022:E618X	E	-	1	0	DGKG	187412343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.431000	0.80335	2.802000	0.96397	0.563000	0.77884	GAA		0.453	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			4	100	1	0	0.00024832	0.150653	0.0003104	4	100				
THEMIS	387357	broad.mit.edu	37	6	128134235	128134238	+	Frame_Shift_Del	DEL	ACTA	ACTA	-	rs150659844		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr6:128134235_128134238delACTA	ENST00000368248.2	-	4	1696_1699	c.1548_1551delTAGT	c.(1546-1551)gttagtfs	p.VS516fs	THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000368250.1_Frame_Shift_Del_p.VS437fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	516	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAGAAATTACTAACTAACTGAA	0.441																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1309-1314)gtfs		thymocyte selection associated																																				SO:0001589	frameshift_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134235_128134238delACTA	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1548_1551delTAGT	6.37:g.128134239_128134242delACTA	ENSP00000357231:p.Val516fs					THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs	p.VS437fs			Q8N1K5	THMS1_HUMAN			5	1809_1812	-			516			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	ENST00000368248.2	37	c.1311_1314delTAGT	CCDS34534.1																																																																																				0.441	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		50	76						50	76	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145009091	145009091	+	Frame_Shift_Del	DEL	G	G	-	rs137853160		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:145009091delG	ENST00000322810.4	-	9	1412	c.1243delC	c.(1243-1245)cagfs	p.Q415fs	PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q301fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q282fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q305fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q256fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q264fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q246fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	415	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCGCAGCTGCAGCTCCTGC	0.706																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137	GRCh37	CM050308	PLEC	M	rs137853160	c.(1243-1245)agfs		plectin							17.0	25.0	22.0					8																	145009091		2047	4182	6229	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145009091delG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1243delC	8.37:g.145009091delG	ENSP00000323856:p.Gln415fs					PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q305fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q264fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q282fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q256fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q301fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q246fs	p.Q415fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			9	1412	-			415			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.1243delC	CCDS43772.1																																																																																				0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		19	31						19	31	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20262849	20262850	+	RNA	INS	-	-	T	rs71340318|rs58259738		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:20262849_20262850insT	ENST00000590606.1	-	0	0				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA																							TTTCttttttcttttttttttt	0.47																																						ENST00000593655.1																			0																																																			0							g.chr19:20262849_20262850insT																													19.37:g.20262860_20262860dupT						CTC-260E6.6_ENST00000586657.1_RNA								0	337	-									RNA	INS	ENST00000590606.1	37																																																																																						0.470	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			2	4						2	4	---	---	---	---
