#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
EXOSC4	54512	broad.mit.edu	37	8	145135356	145135356	+	Missense_Mutation	SNP	C	C	A	rs376508817		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr8:145135356C>A	ENST00000316052.5	+	3	693	c.590C>A	c.(589-591)gCg>gAg	p.A197E	CTD-3065J16.9_ENST00000524499.1_RNA|EXOSC4_ENST00000525936.1_Nonsense_Mutation_p.C154*|GPAA1_ENST00000361036.6_5'Flank|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	197					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)	p.A197E(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACAGATTGCGCTGCTTGAG	0.662																																						ENST00000525936.1																			1	Substitution - Missense(1)	p.A197E(1)	prostate(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7						c.(460-462)tgC>tgA		exosome component 4							63.0	68.0	67.0					8																	145135356		2203	4299	6502	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145135356C>A	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.590C>A	8.37:g.145135356C>A	ENSP00000315476:p.Ala197Glu					EXOSC4_ENST00000316052.5_Missense_Mutation_p.A197E	p.C154*			Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	543	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0						Nonsense_Mutation	SNP	ENST00000316052.5	37	c.462C>A	CCDS6414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.616095|4.616095	0.87359|0.87359	.|.	.|.	ENSG00000178896|ENSG00000178896	ENST00000316052;ENST00000527954|ENST00000525936	T;T|.	0.45276|.	0.9;0.9|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.056355|.	0.64402|.	D|.	0.000001|.	T|.	0.77418|.	0.4127|.	M|M	0.77313|0.77313	2.365|2.365	0.42134|0.42134	D|D	0.991483|0.991483	P|.	0.51351|.	0.944|.	P|.	0.56127|.	0.792|.	T|.	0.80795|.	-0.1223|.	10|.	0.72032|0.87932	D|D	0.01|0	-22.1396|-22.1396	16.6096|16.6096	0.84879|0.84879	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	197|.	Q9NPD3|.	EXOS4_HUMAN|.	E|X	197;220|154	ENSP00000315476:A197E;ENSP00000436539:A220E|.	ENSP00000315476:A197E|ENSP00000432661:C154X	A|C	+|+	2|3	0|2	EXOSC4|EXOSC4	145207344|145207344	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.905000|0.905000	0.53344|0.53344	7.115000|7.115000	0.77110|0.77110	2.531000|2.531000	0.85337|0.85337	0.561000|0.561000	0.74099|0.74099	GCG|TGC		0.662	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		20	106	1	0	4.35082e-09	1	4.54563e-09	20	106				
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308																																						ENST00000399799.1																			1	Substitution - Missense(1)	p.T518S(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1552-1554)Aca>Tca		Rho-associated, coiled-coil containing protein kinase 1							57.0	61.0	60.0					18																	18586746		2201	4297	6498	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586746T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1552A>T	18.37:g.18586746T>A	ENSP00000382697:p.Thr518Ser						p.T518S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)		518			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1552A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	9.907	1.208593	0.22205	.	.	ENSG00000067900	ENST00000399799	D	0.81996	-1.56	5.44	5.44	0.79542	.	0.049365	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25144	0.715	0.54753	D	0.999988	B	0.10296	0.003	B	0.09377	0.004	T	0.66448	-0.5921	10	0.10377	T	0.69	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	518	Q13464	ROCK1_HUMAN	S	518	ENSP00000382697:T518S	ENSP00000382697:T518S	T	-	1	0	ROCK1	16840744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	2.285000	0.76669	0.533000	0.62120	ACA		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	202	0	0	0	1	0	7	202				
PPIP5K1	9677	broad.mit.edu	37	15	43827082	43827082	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:43827082G>A	ENST00000396923.3	-	30	4213	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000420765.1_Silent_p.T1364T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1364					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.T1364T(1)		large_intestine(1)	1						CTTCTACAAGGGTTTCCTGGA	0.577																																						ENST00000420765.1																			1	Substitution - coding silent(1)	p.T1364T(1)	prostate(1)	large_intestine(1)	1						c.(4090-4092)acC>acT		diphosphoinositol pentakisphosphate kinase 1							96.0	98.0	98.0					15																	43827082		2201	4298	6499	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827082G>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.4092C>T	15.37:g.43827082G>A						PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T	p.T1364T	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			31	4274	-			1364					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.4092C>T	CCDS45252.1																																																																																				0.577	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		8	217	0	0	0	1	0	8	217				
THUMPD2	80745	broad.mit.edu	37	2	39982551	39982551	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:39982551T>A	ENST00000505747.1	-	8	991		c.e8-2		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATACACATCCTATGGGGAAAT	0.323																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.e8-2		THUMP domain containing 2							40.0	41.0	41.0					2																	39982551		2201	4300	6501	SO:0001630	splice_region_variant	80745						methyltransferase activity	g.chr2:39982551T>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.964-2A>T	2.37:g.39982551T>A						THUMPD2_ENST00000260619.6_Splice_Site		NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			8	991	-		all_hematologic(82;0.248)						A8K7I7|Q53TT8|Q53TV0	Splice_Site	SNP	ENST00000505747.1	37		CCDS1805.2	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986484	0.53934	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8516	0.52415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THUMPD2	39836055	1.000000	0.71417	0.071000	0.20095	0.868000	0.49771	4.675000	0.61619	2.053000	0.61076	0.379000	0.24179	.		0.323	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	Intron	4	77	0	0	0	1	0	4	77				
CSTB	1476	broad.mit.edu	37	21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:45194208G>A	ENST00000291568.5	-	3	347	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	58					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.H58Y(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCGCCGACGTGCACCTGGGAA	0.537																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			1	Substitution - Missense(1)	p.H58Y(1)	prostate(1)	lung(1)|prostate(1)	2						c.(172-174)Cac>Tac		cystatin B (stefin B)							140.0	127.0	131.0					21																	45194208		2203	4300	6503	SO:0001583	missense	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194208G>A	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.172C>T	21.37:g.45194208G>A	ENSP00000291568:p.His58Tyr						p.H58Y	NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	3	347	-			58						Missense_Mutation	SNP	ENST00000291568.5	37	c.172C>T	CCDS13701.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050887	0.55218	.	.	ENSG00000160213	ENST00000291568	T	0.26373	1.74	5.2	4.3	0.51218	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.161484	0.56097	D	0.000039	T	0.35624	0.0938	.	.	.	0.80722	D	1	D	0.53462	0.96	P	0.51266	0.664	T	0.10222	-1.0639	9	0.49607	T	0.09	-21.3388	11.1999	0.48734	0.0:0.2385:0.7615:0.0	.	58	P04080	CYTB_HUMAN	Y	58	ENSP00000291568:H58Y	ENSP00000291568:H58Y	H	-	1	0	CSTB	44018636	0.968000	0.33430	0.064000	0.19789	0.025000	0.11179	3.369000	0.52365	1.113000	0.41760	0.561000	0.74099	CAC		0.537	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		21	118	0	0	0	1	0	21	118				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	53	0	0	0	1	0	4	53				
SPHKAP	80309	broad.mit.edu	37	2	228882892	228882892	+	Missense_Mutation	SNP	C	C	T	rs137871355	byFrequency	TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:228882892C>T	ENST00000392056.3	-	7	2724	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R893H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	893						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R893H(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGTTGATGCGAGATGTGGC	0.507													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20852	0.0		0.0	False		,,,				2504	0.0					ENST00000392056.3																			2	Substitution - Missense(2)	p.R893H(2)	prostate(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2677-2679)cGc>cAc		SPHK1 interactor, AKAP domain containing		C	HIS/ARG,HIS/ARG	14,4392	21.2+/-45.6	0,14,2189	392.0	365.0	374.0		2678,2678	-1.1	0.0	2	dbSNP_134	374	0,8600		0,0,4300	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	29,29	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	benign,benign	893/1701,893/1672	228882892	14,12992	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882892C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2678G>A	2.37:g.228882892C>T	ENSP00000375909:p.Arg893His					SPHKAP_ENST00000344657.5_Missense_Mutation_p.R893H	p.R893H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2724	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	893					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2678G>A	CCDS46537.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.270	-0.613282	0.03690	0.003177	0.0	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.85	-1.11	0.09840	.	0.994479	0.08165	N	0.987860	T	0.03564	0.0102	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.40194	-0.9576	10	0.52906	T	0.07	.	2.8865	0.05662	0.4422:0.2792:0.0631:0.2155	.	893;893	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	893	ENSP00000375909:R893H;ENSP00000339886:R893H	ENSP00000339886:R893H	R	-	2	0	SPHKAP	228591136	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.963000	0.29293	-0.359000	0.08150	-1.268000	0.01426	CGC		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		21	985	0	0	0	1	0	21	985				
THBS1	7057	broad.mit.edu	37	15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:39874829A>G	ENST00000260356.5	+	3	668	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	168	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.Y168C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GCCCAGCTGTACATCGACTGT	0.562																																						ENST00000260356.5																			1	Substitution - Missense(1)	p.Y168C(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(502-504)tAc>tGc		thrombospondin 1	Becaplermin(DB00102)						69.0	53.0	58.0					15																	39874829		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874829A>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.503A>G	15.37:g.39874829A>G	ENSP00000260356:p.Tyr168Cys						p.Y168C	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	668	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	168			TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.503A>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994878	0.74703	.	.	ENSG00000137801	ENST00000260356	T	0.03524	3.9	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.32852	N	0.005571	T	0.16685	0.0401	M	0.73962	2.25	0.53005	D	0.999964	D	0.76494	0.999	D	0.66602	0.945	T	0.00091	-1.2084	10	0.87932	D	0	-39.3674	14.7667	0.69646	1.0:0.0:0.0:0.0	.	168	P07996	TSP1_HUMAN	C	168	ENSP00000260356:Y168C	ENSP00000260356:Y168C	Y	+	2	0	THBS1	37662121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	2.267000	0.75376	0.533000	0.62120	TAC		0.562	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	84	0	0	0	1	0	5	84				
MYH8	4626	broad.mit.edu	37	17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	673	Actin-binding.|Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V673A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATACACCGTACGAAGTGAGG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			1	Substitution - Missense(1)	p.V673A(1)	prostate(1)	NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2017-2019)gTa>gCa		myosin, heavy chain 8, skeletal muscle, perinatal							99.0	91.0	93.0					17																	10310244		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10310244A>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2018T>C	17.37:g.10310244A>G	ENSP00000384330:p.Val673Ala					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V673A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			18	2112	-			673			Actin-binding.|Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2018T>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565725	0.86439	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77229	-1.08	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.37577	U	0.002032	D	0.92166	0.7516	H	0.97315	3.98	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.94795	0.7965	10	0.87932	D	0	.	15.0034	0.71492	1.0:0.0:0.0:0.0	.	673	P13535	MYH8_HUMAN	A	673	ENSP00000384330:V673A	ENSP00000252173:V673A	V	-	2	0	MYH8	10250969	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.995000	0.93534	2.142000	0.66516	0.528000	0.53228	GTA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		22	126	0	0	0	1	0	22	126				
SYNJ1	8867	broad.mit.edu	37	21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:34066614T>A	ENST00000322229.7	-	5	712	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F			O43426	SYNJ1_HUMAN	synaptojanin 1	238	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCATCTAAGTACACAACCTA	0.323																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(829-831)tAc>tTc		synaptojanin 1							58.0	56.0	56.0					21																	34066614		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34066614T>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.713A>T	21.37:g.34066614T>A	ENSP00000322234:p.Tyr238Phe					SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F	p.Y277F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			6	829	-			238			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.830A>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407439	0.42715	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.87	4.66	0.58398	Synaptojanin, N-terminal (2);	0.104578	0.64402	D	0.000002	T	0.37100	0.0991	N	0.25245	0.725	0.51012	D	0.999909	B;B;B;B;B	0.11235	0.001;0.002;0.004;0.002;0.001	B;B;B;B;B	0.17979	0.015;0.02;0.019;0.02;0.004	T	0.17319	-1.0373	10	0.30854	T	0.27	.	10.7292	0.46087	0.2375:0.0:0.0:0.7625	.	238;277;238;238;238	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	F	238;238;277;277;238;238	ENSP00000371931:Y238F;ENSP00000349903:Y238F;ENSP00000371939:Y277F;ENSP00000409667:Y277F;ENSP00000322234:Y238F;ENSP00000413649:Y238F	ENSP00000322234:Y238F	Y	-	2	0	SYNJ1	32988485	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	2.151000	0.42263	2.243000	0.73865	0.482000	0.46254	TAC		0.323	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	73	0	0	0	1	0	4	73				
IL1RL2	8808	broad.mit.edu	37	2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	354					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.Y236F(1)|p.Y354F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTGTTGTGTACATATACAAC	0.383																																						ENST00000264257.2																			2	Substitution - Missense(2)	p.Y236F(1)|p.Y354F(1)	prostate(2)	breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1060-1062)tAc>tTc		interleukin 1 receptor-like 2							134.0	108.0	117.0					2																	102842427		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102842427A>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1061A>T	2.37:g.102842427A>T	ENSP00000264257:p.Tyr354Phe					IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	p.Y354F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			9	1187	+			354					A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1061A>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	2.808	-0.247554	0.05867	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03124	4.3;4.04;4.3	5.78	-9.11	0.00711	.	1.179030	0.05698	N	0.593549	T	0.01523	0.0049	N	0.05078	-0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47560	-0.9108	10	0.12103	T	0.63	.	7.6041	0.28093	0.4248:0.0:0.121:0.4543	.	236;354	A4FU63;Q9HB29	.;ILRL2_HUMAN	F	354;236;354	ENSP00000264257:Y354F;ENSP00000413348:Y236F;ENSP00000442184:Y354F	ENSP00000264257:Y354F	Y	+	2	0	IL1RL2	102208859	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.033000	0.13754	-1.923000	0.01065	-0.408000	0.06270	TAC		0.383	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		5	82	0	0	0	1	0	5	82				
LY75	4065	broad.mit.edu	37	2	160688257	160688257	+	Silent	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75_ENST00000554112.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1294	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E1294E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAAGTTATTCTCCTTTTCAT	0.294																																						ENST00000263636.4																			1	Substitution - coding silent(1)	p.E1294E(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3880-3882)gaG>gaA		lymphocyte antigen 75							110.0	115.0	113.0					2																	160688257		2203	4294	6497	SO:0001819	synonymous_variant	4065							g.chr2:160688257C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3882G>A	2.37:g.160688257C>T						LY75_ENST00000554112.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	p.E1294E	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	28	3909	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.3882G>A	CCDS2211.1																																																																																				0.294	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	165	0	0	0	1	0	6	165				
UEVLD	55293	broad.mit.edu	37	11	18579845	18579845	+	Silent	SNP	G	G	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18579845G>C	ENST00000541984.1	-	5	407	c.345C>G	c.(343-345)ctC>ctG	p.L115L	UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000396197.3_Silent_p.L215L|UEVLD_ENST00000379387.4_Silent_p.L193L	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.L215L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCCTTCTGAGAGGTCTAAGA	0.413																																						ENST00000396197.3																			2	Substitution - coding silent(2)	p.L215L(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(643-645)ctC>ctG		UEV and lactate/malate dehyrogenase domains							108.0	90.0	96.0					11																	18579845		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18579845G>C	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.345C>G	11.37:g.18579845G>C						UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L	p.L215L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			7	673	-			215						Silent	SNP	ENST00000541984.1	37	c.645C>G	CCDS58125.1																																																																																				0.413	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		7	106	0	0	0	1	0	7	106				
CNTN6	27255	broad.mit.edu	37	3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:1427451C>T	ENST00000446702.2	+	20	3301	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S|CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S			Q9UQ52	CNTN6_HUMAN	contactin 6	892	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P892S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCTCAAGCCCCCCAGTCAA	0.453																																						ENST00000446702.2																			1	Substitution - Missense(1)	p.P892S(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2674-2676)Ccc>Tcc		contactin 6							143.0	143.0	143.0					3																	1427451		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427451C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2674C>T	3.37:g.1427451C>T	ENSP00000407822:p.Pro892Ser					CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S|CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S	p.P892S			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	3301	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	892			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2674C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552883	0.13374	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53423	0.62;0.62;0.62	5.75	-0.852	0.10713	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.903647	0.09441	N	0.801792	T	0.27798	0.0684	N	0.26162	0.8	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.23440	-1.0188	10	0.16896	T	0.51	.	4.5944	0.12322	0.4752:0.1558:0.2965:0.0725	.	892	Q9UQ52	CNTN6_HUMAN	S	892;820;892	ENSP00000407822:P892S;ENSP00000442791:P820S;ENSP00000341882:P892S	ENSP00000341882:P892S	P	+	1	0	CNTN6	1402451	0.000000	0.05858	0.234000	0.24042	0.983000	0.72400	0.112000	0.15479	-0.174000	0.10743	0.650000	0.86243	CCC		0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		7	240	0	0	0	1	0	7	240				
ZBTB38	253461	broad.mit.edu	37	3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T					zinc finger and BTB domain containing 38									p.I38T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCACTATCATTGTGGAAGAT	0.428																																						ENST00000514251.1																			1	Substitution - Missense(1)	p.I38T(1)	prostate(1)	breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(112-114)aTt>aCt		zinc finger and BTB domain containing 38							138.0	129.0	132.0					3																	141161343		1864	4115	5979	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161343T>C	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.113T>C	3.37:g.141161343T>C	ENSP00000426387:p.Ile38Thr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T	p.I38T			Q8NAP3	ZBT38_HUMAN			4	392	+			38			BTB.			Missense_Mutation	SNP	ENST00000514251.1	37	c.113T>C	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969983	0.74246	.	.	ENSG00000177311	ENST00000509842;ENST00000507722;ENST00000513258;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000504673;ENST00000513570;ENST00000441582;ENST00000321464;ENST00000510726;ENST00000509813	T;T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.148137	0.46145	D	0.000314	T	0.73606	0.3608	L	0.42686	1.345	0.46954	D	0.999267	D;D	0.56968	0.978;0.978	P;P	0.60236	0.871;0.871	T	0.76900	-0.2788	10	0.87932	D	0	-25.1023	15.3051	0.73987	0.0:0.0:0.0:1.0	.	39;38	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	38;38;38;38;38;38;38;38;38;39;38;38	ENSP00000426931:I38T;ENSP00000421037:I38T;ENSP00000426288:I38T;ENSP00000424254:I38T;ENSP00000426387:I38T;ENSP00000425705:I38T;ENSP00000422347:I38T;ENSP00000422757:I38T;ENSP00000406955:I38T;ENSP00000372635:I39T;ENSP00000422081:I38T;ENSP00000422894:I38T	ENSP00000372635:I39T	I	+	2	0	ZBTB38	142644033	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.655000	0.83696	2.095000	0.63458	0.482000	0.46254	ATT		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			10	387	0	0	0	1	0	10	387				
VSIG4	11326	broad.mit.edu	37	X	65252421	65252421	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:65252421T>C	ENST00000374737.4	-	3	691	c.583A>G	c.(583-585)Acc>Gcc	p.T195A	VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000455586.2_Missense_Mutation_p.T195A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T195A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGTAAGGTACTTAGGGTT	0.498																																						ENST00000455586.2																			1	Substitution - Missense(1)	p.T195A(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(583-585)Acc>Gcc		V-set and immunoglobulin domain containing 4							193.0	162.0	172.0					X																	65252421		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252421T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.583A>G	X.37:g.65252421T>C	ENSP00000363869:p.Thr195Ala					VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A	p.T195A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			3	709	-			195			Ig-like 2.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.583A>G	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.778|7.778	0.708802|0.708802	0.15239|0.15239	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000423830|ENST00000427538	T;T;T|.	0.03772|.	3.81;3.81;3.81|.	4.04|4.04	1.65|1.65	0.23941|0.23941	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.727143|.	0.12251|.	N|.	0.485577|.	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	P;P;B;D|.	0.57571|.	0.75;0.789;0.407;0.98|.	B;P;B;P|.	0.56474|.	0.396;0.608;0.325;0.799|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.40728|.	T|.	0.16|.	-0.7344|-0.7344	4.6683|4.6683	0.12676|0.12676	0.0:0.279:0.0:0.721|0.0:0.279:0.0:0.721	.|.	195;118;185;195|.	Q9Y279-2;C9JTJ4;C9JH67;Q9Y279|.	.;.;.;VSIG4_HUMAN|.	A|C	195;195;118|121	ENSP00000363869:T195A;ENSP00000411581:T195A;ENSP00000414594:T118A|.	ENSP00000363869:T195A|.	T|Y	-|-	1|2	0|0	VSIG4|VSIG4	65169146|65169146	0.055000|0.055000	0.20627|0.20627	0.016000|0.016000	0.15963|0.15963	0.024000|0.024000	0.10985|0.10985	0.982000|0.982000	0.29539|0.29539	0.331000|0.331000	0.23511|0.23511	0.481000|0.481000	0.45027|0.45027	ACC|TAC		0.498	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		6	66	0	0	0	1	0	6	66				
DAG1	1605	broad.mit.edu	37	3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:49570280G>A	ENST00000539901.1	+	3	2894	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000545947.1_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	779					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.R779Q(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGCAAGAAGCGGAAGGGCAAG	0.572																																						ENST00000545947.1																			1	Substitution - Missense(1)	p.R779Q(1)	prostate(1)	NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2335-2337)cGg>cAg		dystroglycan 1 (dystrophin-associated glycoprotein 1)							61.0	49.0	53.0					3																	49570280		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570280G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2336G>A	3.37:g.49570280G>A	ENSP00000439334:p.Arg779Gln					DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q	p.R779Q	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	3058	+			779					A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2336G>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658674	0.88154	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78270	-0.2269	9	.	.	.	-18.4028	18.9242	0.92538	0.0:0.0:1.0:0.0	.	779	Q14118	DAG1_HUMAN	Q	779	ENSP00000440705:R779Q;ENSP00000312435:R779Q;ENSP00000442600:R779Q;ENSP00000440590:R779Q;ENSP00000439334:R779Q;ENSP00000438421:R779Q	.	R	+	2	0	DAG1	49545284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CGG		0.572	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			3	62	0	0	0	1	0	3	62				
LY75	4065	broad.mit.edu	37	2	160710869	160710869	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160710869A>T	ENST00000263636.4	-	18	2623		c.e18+1		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		cttttaaattaCATTTGCTAT	0.254																																						ENST00000263636.4																			1	Unknown(1)	p.?(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e18+1		lymphocyte antigen 75							25.0	25.0	25.0					2																	160710869		2192	4298	6490	SO:0001630	splice_region_variant	4065							g.chr2:160710869A>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2595+1T>A	2.37:g.160710869A>T						LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	18	2623	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1																																																																																				0.254	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	5	66	0	0	0	1	0	5	66				
L1TD1	54596	broad.mit.edu	37	1	62672762	62672762	+	Missense_Mutation	SNP	T	T	A	rs373993863		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:62672762T>A	ENST00000498273.1	+	3	757	c.462T>A	c.(460-462)agT>agA	p.S154R		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	154								p.S154R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aatacaatagtaatgatggta	0.333																																						ENST00000498273.1																			1	Substitution - Missense(1)	p.S154R(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(460-462)agT>agA		LINE-1 type transposase domain containing 1							25.0	28.0	27.0					1																	62672762		2195	4297	6492	SO:0001583	missense	54596							g.chr1:62672762T>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.462T>A	1.37:g.62672762T>A	ENSP00000419901:p.Ser154Arg						p.S154R	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			3	757	+			154					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.462T>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	T	1.180	-0.638351	0.03557	.	.	ENSG00000240563	ENST00000498273	T	0.15372	2.43	1.92	-3.83	0.04269	.	.	.	.	.	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31392	-0.9945	9	0.24483	T	0.36	.	4.6205	0.12447	0.0:0.3116:0.3117:0.3767	.	154	Q5T7N2	LITD1_HUMAN	R	154	ENSP00000419901:S154R	ENSP00000419901:S154R	S	+	3	2	L1TD1	62445350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.676000	0.01946	-2.314000	0.00647	-2.381000	0.00232	AGT		0.333	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		4	42	0	0	0	1	0	4	42				
COL9A3	1299	broad.mit.edu	37	20	61471946	61471946	+	Silent	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr20:61471946C>T	ENST00000343916.3	+	32	1920	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	639	Triple-helical region 1 (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G639G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCTCCCGGCGAGCCTGGGC	0.672																																						ENST00000343916.3																			1	Substitution - coding silent(1)	p.G639G(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1915-1917)ggC>ggT		collagen, type IX, alpha 3							26.0	31.0	29.0					20																	61471946		2203	4299	6502	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61471946C>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1917C>T	20.37:g.61471946C>T						COL9A3_ENST00000462700.1_3'UTR	p.G639G	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			32	1920	+	Breast(26;5.68e-08)		639			Triple-helical region 1 (COL1).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.1917C>T	CCDS13505.1																																																																																				0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		5	56	0	0	0	1	0	5	56				
KCNK9	51305	broad.mit.edu	37	8	140630697	140630697	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr8:140630697C>T	ENST00000520439.1	-	2	992	c.929G>A	c.(928-930)cGc>cAc	p.R310H	KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	310					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R310H(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TGCCACCGAGCGGCCGCCATA	0.622																																						ENST00000520439.1																			1	Substitution - Missense(1)	p.R310H(1)	prostate(1)	NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(928-930)cGc>cAc		potassium channel, subfamily K, member 9							51.0	55.0	53.0					8																	140630697		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630697C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.929G>A	8.37:g.140630697C>T	ENSP00000430676:p.Arg310His					KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H	p.R310H			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	992	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	310					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.929G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	1.003	-0.690179	0.03303	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.15718	2.4;2.4;2.4	4.85	3.93	0.45458	.	0.814960	0.11283	N	0.580098	T	0.13586	0.0329	L	0.51422	1.61	0.23501	N	0.997547	P	0.51653	0.947	B	0.32805	0.153	T	0.14868	-1.0457	10	0.48119	T	0.1	.	9.639	0.39828	0.0:0.8958:0.0:0.1042	.	310	Q9NPC2	KCNK9_HUMAN	H	310	ENSP00000429847:R310H;ENSP00000302166:R310H;ENSP00000430676:R310H	ENSP00000302166:R310H	R	-	2	0	KCNK9	140699879	0.969000	0.33509	0.017000	0.16124	0.002000	0.02628	2.621000	0.46418	0.936000	0.37367	-0.345000	0.07892	CGC		0.622	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		7	50	0	0	0	1	0	7	50				
UFL1	23376	broad.mit.edu	37	6	96974309	96974309	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:96974309C>G	ENST00000369278.4	+	5	529	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	155	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CTTTCTGACACAGGTATTTTT	0.368																																						ENST00000369278.4																			0											c.(463-465)Cag>Gag		UFM1-specific ligase 1							109.0	105.0	106.0					6																	96974309		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96974309C>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.463C>G	6.37:g.96974309C>G	ENSP00000358283:p.Gln155Glu						p.Q155E	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			5	529	+			155			Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.463C>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	C	4.166	0.029324	0.08054	.	.	ENSG00000014123	ENST00000369278	T	0.39229	1.09	5.67	4.74	0.60224	.	0.101773	0.64402	D	0.000003	T	0.05593	0.0147	N	0.01219	-0.95	0.44302	D	0.997172	B	0.06786	0.001	B	0.06405	0.002	T	0.33599	-0.9862	10	0.02654	T	1	-11.6071	13.6076	0.62056	0.0:0.7229:0.2771:0.0	.	155	O94874	UFL1_HUMAN	E	155	ENSP00000358283:Q155E	ENSP00000358283:Q155E	Q	+	1	0	KIAA0776	97081030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.717000	0.54911	2.660000	0.90430	0.650000	0.86243	CAG		0.368	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		4	150	0	0	0	1	0	4	150				
CFAP44	55779	broad.mit.edu	37	3	113152410	113152410	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:113152410A>T	ENST00000295868.2	-	2	263		c.e2+1		WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Splice_Site	NM_018338.3	NP_060808.2												p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTTACTTACATCTTGATT	0.299																																						ENST00000393845.2																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.e2+1		WD repeat domain 52							84.0	84.0	84.0					3																	113152410		2202	4299	6501	SO:0001630	splice_region_variant	55779							g.chr3:113152410A>T																												ENST00000295868.2:c.100+1T>A	3.37:g.113152410A>T						WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA		NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			2	167	-									Splice_Site	SNP	ENST00000295868.2	37		CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523849	0.44866	.	.	ENSG00000206530	ENST00000393845;ENST00000295868;ENST00000473143	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0934	0.36625	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR52	114635100	0.998000	0.40836	0.984000	0.44739	0.449000	0.32228	2.111000	0.41883	1.919000	0.55581	0.528000	0.53228	.		0.299	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Intron	8	206	0	0	0	1	0	8	206				
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs370741711		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1357-1359)ccG>ccA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41.0	42.0	42.0					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P	p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			14	1727	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1359G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		3	53	0	0	0	1	0	3	53				
KDM3A	55818	broad.mit.edu	37	2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	715					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H715Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCAGATACATGAACCAGA	0.408																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			2	Substitution - Missense(2)	p.H715Y(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2143-2145)Cat>Tat		lysine (K)-specific demethylase 3A							138.0	137.0	137.0					2																	86705343		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705343C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2143C>T	2.37:g.86705343C>T	ENSP00000386660:p.His715Tyr					KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y|KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y	p.H715Y			Q9Y4C1	KDM3A_HUMAN			15	2508	+			715					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2143C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584363	0.86748	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.81579	-1.5;-1.5;-1.5;-1.51	5.84	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.84511	2.7	0.51233	D	0.999918	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.91700	0.5373	10	0.87932	D	0	.	14.1958	0.65670	0.0:0.9284:0.0:0.0716	.	663;715	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	715;715;715;715;663	ENSP00000386660:H715Y;ENSP00000323659:H715Y;ENSP00000386516:H715Y;ENSP00000438324:H663Y	ENSP00000323659:H715Y	H	+	1	0	KDM3A	86558854	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.818000	0.86416	1.475000	0.48197	0.655000	0.94253	CAT		0.408	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		27	159	0	0	0	1	0	27	159				
VPS13D	55187	broad.mit.edu	37	1	12336133	12336133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:12336133C>T	ENST00000358136.3	+	19	2618	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R830*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R830*(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGGTTGGACGAGTGAAAGA	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358136.3																			1	Substitution - Nonsense(1)	p.R830*(1)	prostate(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2488-2490)Cga>Tga		vacuolar protein sorting 13 homolog D (S. cerevisiae)							104.0	93.0	97.0					1																	12336133		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12336133C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2488C>T	1.37:g.12336133C>T	ENSP00000350854:p.Arg830*		OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R830*	p.R830*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	2618	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	830						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.2488C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	41	8.551527	0.98859	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.87	4.95	0.65309	.	0.213048	0.41001	D	0.000963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.127	0.81402	0.1415:0.8585:0.0:0.0	.	.	.	.	X	830	.	ENSP00000348666:R830X	R	+	1	2	VPS13D	12258720	0.998000	0.40836	0.986000	0.45419	0.996000	0.88848	4.654000	0.61469	1.453000	0.47775	0.655000	0.94253	CGA		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	70	0	0	0	1	0	5	70				
HFM1	164045	broad.mit.edu	37	1	91843738	91843738	+	Silent	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:91843738T>A	ENST00000370425.3	-	11	1337	c.1239A>T	c.(1237-1239)gtA>gtT	p.V413V	HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	413	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.V413V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAATATGTACCTAAGCAG	0.274																																						ENST00000370425.3																			1	Substitution - coding silent(1)	p.V413V(1)	prostate(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1237-1239)gtA>gtT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							52.0	46.0	48.0					1																	91843738		1803	4079	5882	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843738T>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1239A>T	1.37:g.91843738T>A						HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	p.V413V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	11	1337	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	413			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1239A>T	CCDS30769.2																																																																																				0.274	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	89	0	0	0	1	0	5	89				
EEF2K	29904	broad.mit.edu	37	16	22278045	22278045	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr16:22278045C>T	ENST00000263026.5	+	15	2086	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	538					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.R538C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CGAGGGTGGGCGCTTCTGCGA	0.682																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			2	Substitution - Missense(2)	p.R538C(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1612-1614)Cgc>Tgc		eukaryotic elongation factor-2 kinase							57.0	50.0	52.0					16																	22278045		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22278045C>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1612C>T	16.37:g.22278045C>T	ENSP00000263026:p.Arg538Cys						p.R538C	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	15	2086	+			538					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1612C>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498840	0.96355	.	.	ENSG00000103319	ENST00000263026	T	0.14766	2.48	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05257	-1.0896	10	0.87932	D	0	-7.1997	20.8794	0.99867	0.0:1.0:0.0:0.0	.	538	O00418	EF2K_HUMAN	C	538	ENSP00000263026:R538C	ENSP00000263026:R538C	R	+	1	0	EEF2K	22185546	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.644000	0.67902	2.941000	0.99782	0.655000	0.94253	CGC		0.682	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		9	88	0	0	0	1	0	9	88				
ATP6V0A4	50617	broad.mit.edu	37	7	138437474	138437474	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:138437474G>A	ENST00000310018.2	-	11	1207	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	309					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGTTCAGGATGTGGTAG	0.572																																						ENST00000310018.2																			1	Substitution - coding silent(1)	p.L309L(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(925-927)Ctg>Ttg		ATPase, H+ transporting, lysosomal V0 subunit a4							128.0	102.0	111.0					7																	138437474		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138437474G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.925C>T	7.37:g.138437474G>A						ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			11	1207	-			309					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.925C>T	CCDS5849.1																																																																																				0.572	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		4	137	0	0	0	1	0	4	137				
SCAF11	9169	broad.mit.edu	37	12	46322640	46322640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:46322640T>A	ENST00000369367.3	-	11	1077	c.844A>T	c.(844-846)Act>Tct	p.T282S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	282					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T282S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCAAGAAGTACCtaataat	0.308																																						ENST00000369367.3																			1	Substitution - Missense(1)	p.T282S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(844-846)Act>Tct		SR-related CTD-associated factor 11							52.0	52.0	52.0					12																	46322640		2202	4300	6502	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322640T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.844A>T	12.37:g.46322640T>A	ENSP00000358374:p.Thr282Ser					SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S	p.T282S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			11	1077	-			282					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.844A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	5.161	0.215206	0.09810	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.39787	1.06;1.8;1.06;1.06	5.77	1.68	0.24146	.	0.165297	0.28301	U	0.015855	T	0.24470	0.0593	N	0.20986	0.625	0.09310	N	1	B;B	0.16603	0.018;0.01	B;B	0.10450	0.005;0.002	T	0.20472	-1.0274	10	0.12103	T	0.63	-3.5362	10.7663	0.46295	0.5441:0.0:0.0:0.4559	.	90;282	F8VXG7;Q99590	.;SCAFB_HUMAN	S	282;90;282;222	ENSP00000358374:T282S;ENSP00000448864:T90S;ENSP00000413036:T282S;ENSP00000446746:T222S	ENSP00000358374:T282S	T	-	1	0	SCAF11	44608907	0.996000	0.38824	0.888000	0.34837	0.851000	0.48451	1.063000	0.30567	0.391000	0.25143	0.477000	0.44152	ACT		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	123	0	0	0	1	0	6	123				
MAMLD1	10046	broad.mit.edu	37	X	149671652	149671652	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:149671652G>A	ENST00000370401.2	+	6	2459	c.2149G>A	c.(2149-2151)Ggc>Agc	p.G717S	MAMLD1_ENST00000262858.5_Missense_Mutation_p.G717S|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G692S|MAMLD1_ENST00000455522.2_Missense_Mutation_p.G157S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	717					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G717S(1)|p.G644S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGCCCGGCAGCTCCTT	0.677													G|||	1	0.000264901	0.0	0.0	3775	,	,		12904	0.0		0.0	False		,,,				2504	0.001					ENST00000370401.2																			2	Substitution - Missense(2)	p.G717S(1)|p.G644S(1)	prostate(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(2149-2151)Ggc>Agc		mastermind-like domain containing 1							62.0	60.0	61.0					X																	149671652		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149671652G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.2149G>A	X.37:g.149671652G>A	ENSP00000359428:p.Gly717Ser					MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G717S|MAMLD1_ENST00000455522.2_Missense_Mutation_p.G157S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G692S	p.G717S			Q13495	MAMD1_HUMAN			6	2459	+	Acute lymphoblastic leukemia(192;6.56e-05)		717					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.2149G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	7.711	0.695227	0.15039	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T	0.67698	-0.28;-0.28;-0.27;0.04	3.27	-3.55	0.04639	.	0.738104	0.11939	N	0.514933	T	0.42291	0.1196	N	0.13043	0.29	0.26132	N	0.980405	B;B;B	0.29037	0.231;0.131;0.131	B;B;B	0.20577	0.022;0.03;0.03	T	0.08186	-1.0734	10	0.29301	T	0.29	.	10.7232	0.46052	0.6055:0.0:0.3945:0.0	.	589;692;717	F6WVG1;Q13495-4;Q13495	.;.;MAMD1_HUMAN	S	589;717;717;692;157	ENSP00000359428:G717S;ENSP00000262858:G717S;ENSP00000397438:G692S;ENSP00000389106:G157S	ENSP00000262858:G717S	G	+	1	0	MAMLD1	149422310	0.639000	0.27234	0.833000	0.33012	0.961000	0.63080	-0.967000	0.03821	-1.698000	0.01418	-1.357000	0.01221	GGC		0.677	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		34	79	0	0	0	1	0	34	79				
DIP2B	57609	broad.mit.edu	37	12	51089055	51089055	+	Silent	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:51089055A>T	ENST00000301180.5	+	15	1759	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	575						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCAGAATGTAATGAATAAGA	0.333																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1723-1725)gtA>gtT		DIP2 disco-interacting protein 2 homolog B (Drosophila)							132.0	129.0	130.0					12																	51089055		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51089055A>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1725A>T	12.37:g.51089055A>T							p.V575V	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			15	1759	+			575					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.1725A>T	CCDS31799.1																																																																																				0.333	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		7	234	0	0	0	1	0	7	234				
CPT1B	1375	broad.mit.edu	37	22	51008809	51008809	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr22:51008809G>A	ENST00000360719.2	-	17	2192	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	CPT1B_ENST00000457250.1_Silent_p.S651S|CPT1B_ENST00000312108.7_Silent_p.S685S|CPT1B_ENST00000405237.3_Silent_p.S685S|CPT1B_ENST00000395650.2_Silent_p.S685S|CPT1B_ENST00000434492.2_Silent_p.S480S|CPT1B_ENST00000440709.1_Silent_p.S604S|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	685					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.S685S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTGGCTGGTGGAGAGACGCC	0.617																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			1	Substitution - coding silent(1)	p.S685S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2053-2055)tcC>tcT		carnitine palmitoyltransferase 1B (muscle)							95.0	80.0	85.0					22																	51008809		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51008809G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2055C>T	22.37:g.51008809G>A						CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Silent_p.S685S|CPT1B_ENST00000440709.1_Silent_p.S604S|CPT1B_ENST00000434492.2_Silent_p.S480S|CPT1B_ENST00000312108.7_Silent_p.S685S|CPT1B_ENST00000395650.2_Silent_p.S685S|CPT1B_ENST00000457250.1_Silent_p.S651S	p.S685S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	17	2192	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	685					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.2055C>T	CCDS14098.1																																																																																				0.617	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		8	116	0	0	0	1	0	8	116				
SLC2A9	56606	broad.mit.edu	37	4	9828063	9828063	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:9828063G>A	ENST00000264784.3	-	12	1634	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLC2A9_ENST00000506583.1_Silent_p.I498I|SLC2A9_ENST00000309065.3_Silent_p.I498I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGCTGAGTCGATTTTCTCTT	0.423																																						ENST00000506583.1																			2	Substitution - coding silent(2)	p.I498I(1)|p.I527I(1)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1492-1494)atC>atT		solute carrier family 2 (facilitated glucose transporter), member 9							188.0	168.0	175.0					4																	9828063		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828063G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1581C>T	4.37:g.9828063G>A						SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I	p.I498I			Q9NRM0	GTR9_HUMAN			14	1711	-			527					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1494C>T	CCDS3407.1																																																																																				0.423	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			13	306	0	0	0	1	0	13	306				
SPATA12	353324	broad.mit.edu	37	3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:57108293T>A	ENST00000334325.1	+	2	1246	c.571T>A	c.(571-573)Taa>Aaa	p.*191K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	0										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CACACATCTGTAATCAATAAT	0.512																																						ENST00000334325.1																			0				large_intestine(2)|lung(1)	3						c.(571-573)Taa>Aaa		spermatogenesis associated 12							83.0	85.0	84.0					3																	57108293		2139	4189	6328	SO:0001578	stop_lost	353324							g.chr3:57108293T>A	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.571T>A	3.37:g.57108293T>A	ENSP00000335392:p.*191Lysext*36					ARHGEF3_ENST00000338458.4_Intron	p.*191K	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	1246	+			0					A0AVA8|B2RMW1	Nonstop_Mutation	SNP	ENST00000334325.1	37	c.571T>A	CCDS2879.1	.	.	.	.	.	.	.	.	.	.	T	0.486	-0.877797	0.02550	.	.	ENSG00000186451	ENST00000334325	.	.	.	1.67	-0.933	0.10431	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6025	0.02677	0.2972:0.1957:0.0:0.5071	.	.	.	.	K	191	.	.	X	+	1	0	SPATA12	57083333	0.003000	0.15002	0.001000	0.08648	0.072000	0.16883	-0.131000	0.10482	-0.242000	0.09667	0.260000	0.18958	TAA		0.512	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		7	233	0	0	0	1	0	7	233				
BTBD10	84280	broad.mit.edu	37	11	13424827	13424827	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294																																						ENST00000278174.5																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.e8-2		BTB (POZ) domain containing 10							34.0	38.0	37.0					11																	13424827		2128	4227	6355	SO:0001630	splice_region_variant	84280					nucleus		g.chr11:13424827T>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1007-2A>T	11.37:g.13424827T>A						BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site		NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	8	1252	-								B7Z228|Q86WG1	Splice_Site	SNP	ENST00000278174.5	37		CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508717	0.64410	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTBD10	13381403	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	7.951000	0.87819	2.123000	0.65237	0.528000	0.53228	.		0.294	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	Intron	8	192	0	0	0	1	0	8	192				
SPRR3	6707	broad.mit.edu	37	1	152975765	152975765	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:152975765G>T	ENST00000295367.4	+	2	311	c.269G>T	c.(268-270)tGt>tTt	p.C90F	SPRR3_ENST00000542696.1_Missense_Mutation_p.C90F|SPRR3_ENST00000331860.3_Missense_Mutation_p.C90F	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	90	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.C90F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTGTACCAAGGTC	0.602																																						ENST00000331860.3																			1	Substitution - Missense(1)	p.C90F(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(268-270)tGt>tTt		small proline-rich protein 3							74.0	62.0	66.0					1																	152975765		2203	4299	6502	SO:0001583	missense	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975765G>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.269G>T	1.37:g.152975765G>T	ENSP00000295367:p.Cys90Phe					SPRR3_ENST00000295367.4_Missense_Mutation_p.C90F|SPRR3_ENST00000542696.1_Missense_Mutation_p.C90F	p.C90F	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	419	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	c.269G>T	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	-	0.798	-0.756400	0.03019	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.11821	2.8;2.8;2.8;2.74	4.65	0.917	0.19380	.	.	.	.	.	T	0.01905	0.0060	N	0.22421	0.69	0.09310	N	1	B;B	0.27416	0.112;0.178	B;B	0.28385	0.019;0.089	T	0.48352	-0.9043	9	0.10111	T	0.7	.	4.6005	0.12350	0.6316:0.1721:0.1962:0.0	.	82;90	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	F	90	ENSP00000330391:C90F;ENSP00000402016:C90F;ENSP00000295367:C90F;ENSP00000441477:C90F	ENSP00000295367:C90F	C	+	2	0	SPRR3	151242389	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.406000	0.07187	-0.031000	0.13781	-0.513000	0.04457	TGT		0.602	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		21	82	1	0	3.62473e-10	1	3.84441e-10	21	82				
FASTKD2	22868	broad.mit.edu	37	2	207638988	207638988	+	Missense_Mutation	SNP	C	C	G	rs118203917		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:207638988C>G	ENST00000236980.6	+	7	1642	c.1294C>G	c.(1294-1296)Cga>Gga	p.R432G	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R432G|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R432G	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	432					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R432*(1)|p.R432G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCTTGGCTTTCGACCTGTTGG	0.303																																						ENST00000236980.6																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.R432*(1)|p.R432G(1)	large_intestine(1)|prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21	GRCh37	CM085400	FASTKD2	M	rs118203917	c.(1294-1296)Cga>Gga		FAST kinase domains 2							87.0	86.0	86.0					2																	207638988		2202	4296	6498	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207638988C>G	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1294C>G	2.37:g.207638988C>G	ENSP00000236980:p.Arg432Gly					FASTKD2_ENST00000403094.3_Missense_Mutation_p.R432G|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R432G	p.R432G	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	7	1642	+			432					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1294C>G	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139679	0.37728	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.16743	2.32;2.32;2.32	5.74	4.79	0.61399	.	0.349524	0.27402	N	0.019529	T	0.34803	0.0910	M	0.66939	2.045	0.34229	D	0.676345	D;D	0.61080	0.989;0.961	P;P	0.58820	0.846;0.694	T	0.35226	-0.9797	10	0.27082	T	0.32	-18.3065	16.4943	0.84223	0.1397:0.8603:0.0:0.0	.	432;432	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	G	432	ENSP00000236980:R432G;ENSP00000385990:R432G;ENSP00000384929:R432G	ENSP00000236980:R432G	R	+	1	2	FASTKD2	207347233	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	3.036000	0.49767	2.703000	0.92315	0.655000	0.94253	CGA		0.303	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		8	171	0	0	0	1	0	8	171				
TMEM198	130612	broad.mit.edu	37	2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:220414063A>G	ENST00000344458.2	+	5	1517	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G|MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	311					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D311G(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCAATGGAGACGTCCTCTCC	0.632																																						ENST00000344458.2																			2	Substitution - Missense(2)	p.D311G(2)	prostate(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(931-933)gAc>gGc		transmembrane protein 198							36.0	37.0	37.0					2																	220414063		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414063A>G	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.932A>G	2.37:g.220414063A>G	ENSP00000343507:p.Asp311Gly					TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G	p.D311G			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1517	+		Renal(207;0.0376)	311						Missense_Mutation	SNP	ENST00000344458.2	37	c.932A>G	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744007	0.89663	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.62	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.68217	-0.5467	9	0.51188	T	0.08	-23.5464	11.0287	0.47759	0.9265:0.0:0.0735:0.0	.	311	Q66K66	TM198_HUMAN	G	311	.	ENSP00000343507:D311G	D	+	2	0	TMEM198	220122307	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.277000	0.78572	2.275000	0.75901	0.528000	0.53228	GAC		0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		3	61	0	0	0	1	0	3	61				
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323																																						ENST00000255324.5																			4	Unknown(4)	p.?(4)	prostate(4)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e14+2		ring finger protein 17							75.0	79.0	77.0					13																	25376711		2203	4300	6503	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376711T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1949+2T>A	13.37:g.25376711T>A						RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.5_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	2001	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37		CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.59	3.857059	0.71834	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3697	0.60707	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24274711	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.699000	0.54778	1.997000	0.58415	0.482000	0.46254	.		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron	8	170	0	0	0	1	0	8	170				
RP11-24M17.5	0	broad.mit.edu	37	15	76074694	76074694	+	RNA	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:76074694G>A	ENST00000395215.3	+	0	766				RN7SL319P_ENST00000480656.2_RNA														p.R242Q(1)									GAGAGGGCCCGGTGGCAGGAG	0.483																																						ENST00000395215.3																			1	Substitution - Missense(1)	p.R242Q(1)	prostate(1)																																																0							g.chr15:76074694G>A																													15.37:g.76074694G>A														0	766	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	0.695	-0.793140	0.02862	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	-1.58	0.08479	.	.	.	.	.	T	0.18551	0.0445	.	.	.	.	.	.	B	0.31599	0.33	B	0.23018	0.043	T	0.09079	-1.0691	6	0.36615	T	0.2	.	2.6373	0.04961	0.2347:0.0:0.2462:0.5191	.	242	B4DZE6	.	Q	242	.	ENSP00000378641:R242Q	R	+	2	0	AC019294.2	73861749	0.146000	0.22672	0.002000	0.10522	0.003000	0.03518	1.419000	0.34793	-1.630000	0.01545	-0.798000	0.03219	CGG		0.483	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	113	0	0	0	1	0	4	113				
GRIA2	2891	broad.mit.edu	37	4	158257612	158257612	+	Silent	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:158257612C>T	ENST00000264426.9	+	11	1836	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	GRIA2_ENST00000296526.7_Silent_p.L519L|GRIA2_ENST00000393815.2_Silent_p.L472L|GRIA2_ENST00000449365.1_Silent_p.L472L|GRIA2_ENST00000507898.1_Silent_p.L472L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	519					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L519L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCATGAGCCTCGGGATATCTA	0.408																																						ENST00000296526.7																			2	Substitution - coding silent(2)	p.L519L(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1555-1557)ctC>ctT		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						183.0	181.0	182.0					4																	158257612		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257612C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1557C>T	4.37:g.158257612C>T						GRIA2_ENST00000393815.2_Silent_p.L472L|GRIA2_ENST00000507898.1_Silent_p.L472L|GRIA2_ENST00000264426.9_Silent_p.L519L|GRIA2_ENST00000449365.1_Silent_p.L472L	p.L519L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	1882	+	all_hematologic(180;0.24)	Renal(120;0.0458)	519					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.1557C>T	CCDS43274.1																																																																																				0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			80	422	0	0	0	1	0	80	422				
SYNE1	23345	broad.mit.edu	37	6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:152536125G>A	ENST00000367255.5	-	122	22863	c.22262C>T	c.(22261-22263)cCc>cTc	p.P7421L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7421					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.P7421L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTCAAGGGTAACCTATA	0.398										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.P7421L(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22261-22263)cCc>cTc		spectrin repeat containing, nuclear envelope 1							160.0	152.0	155.0					6																	152536125		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152536125G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22262C>T	6.37:g.152536125G>A	ENSP00000356224:p.Pro7421Leu	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L	p.P7421L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	122	22863	-		Ovarian(120;0.0955)	7421					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22262C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.106428	0.94292	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58060	0.45;1.4;0.44;0.36;0.44;0.6;2.5;1.54	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000010	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.63844	-0.6545	10	0.32370	T	0.25	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	7421;7421;7350;7350	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7421;67;7350;7421;7350;7033;1945;343	ENSP00000356224:P7421L;ENSP00000356226:P67L;ENSP00000396024:P7350L;ENSP00000265368:P7421L;ENSP00000390975:P7350L;ENSP00000341887:P7033L;ENSP00000349276:P1945L;ENSP00000356220:P343L	ENSP00000265368:P7421L	P	-	2	0	SYNE1	152577818	1.000000	0.71417	0.787000	0.31911	0.924000	0.55760	9.802000	0.99131	2.834000	0.97654	0.650000	0.86243	CCC		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	269	0	0	0	1	0	13	269				
MRGPRX4	117196	broad.mit.edu	37	11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18195494C>T	ENST00000314254.3	+	1	1111	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P231S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCGGCCTGCCCTTCGGCAT	0.532																																						ENST00000314254.3																			1	Substitution - Missense(1)	p.P231S(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(691-693)Ccc>Tcc		MAS-related GPR, member X4							96.0	90.0	92.0					11																	18195494		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195494C>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.691C>T	11.37:g.18195494C>T	ENSP00000314042:p.Pro231Ser					RP11-113D6.6_ENST00000527671.1_Intron	p.P231S	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1111	+			231					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.691C>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549621	0.65311	.	.	ENSG00000179817	ENST00000314254	T	0.80304	-1.36	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.90878	0.7134	M	0.93241	3.395	0.32011	N	0.602113	D	0.89917	1.0	D	0.80764	0.994	D	0.91676	0.5354	10	0.87932	D	0	.	11.4502	0.50147	0.0:1.0:0.0:0.0	.	231	Q96LA9	MRGX4_HUMAN	S	231	ENSP00000314042:P231S	ENSP00000314042:P231S	P	+	1	0	MRGPRX4	18152070	0.813000	0.29090	0.291000	0.24904	0.029000	0.11900	3.856000	0.55964	1.616000	0.50265	0.430000	0.28490	CCC		0.532	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		21	99	0	0	0	1	0	21	99				
PTPN21	11099	broad.mit.edu	37	14	88945824	88945824	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr14:88945824G>A	ENST00000556564.1	-	13	2235	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	PTPN21_ENST00000328736.3_Missense_Mutation_p.R651W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	651					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.R651W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTTGAGCCGCAGGCCCTCC	0.721																																						ENST00000556564.1																			2	Substitution - Missense(2)	p.R651W(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1951-1953)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 21							16.0	19.0	18.0					14																	88945824		2182	4263	6445	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945824G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1951C>T	14.37:g.88945824G>A	ENSP00000452414:p.Arg651Trp					PTPN21_ENST00000328736.3_Missense_Mutation_p.R651W	p.R651W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2235	-			651						Missense_Mutation	SNP	ENST00000556564.1	37	c.1951C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922766	0.92319	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73469	-0.75;-0.75	5.17	-6.74	0.01743	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.71581	2.175	0.35810	D	0.823802	D	0.89917	1.0	D	0.85130	0.997	D	0.84759	0.0761	10	0.72032	D	0.01	.	21.1982	0.99948	0.0:0.0:0.1203:0.8797	.	651	Q16825	PTN21_HUMAN	W	651	ENSP00000330276:R651W;ENSP00000452414:R651W	ENSP00000330276:R651W	R	-	1	2	PTPN21	88015577	0.993000	0.37304	0.510000	0.27712	0.244000	0.25665	0.662000	0.25038	-0.881000	0.03992	0.591000	0.81541	CGG		0.721	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			3	51	0	0	0	1	0	3	51				
SLC6A16	28968	broad.mit.edu	37	19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:49812329G>T	ENST00000335875.4	-	7	1274	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.Q345K	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	345					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Q345K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACAAAACTTGACCCCCTGCT	0.483																																						ENST00000454748.3																			1	Substitution - Missense(1)	p.Q345K(1)	prostate(1)	NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1033-1035)Caa>Aaa		solute carrier family 6, member 16							174.0	161.0	166.0					19																	49812329		2012	4152	6164	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812329G>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1033C>A	19.37:g.49812329G>T	ENSP00000338627:p.Gln345Lys					SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K	p.Q345K			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	7	1234	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	345					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1033C>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624175	0.66901	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	D;D	0.81579	-1.51;-1.51	4.38	3.34	0.38264	.	0.323046	0.32970	N	0.005423	D	0.91540	0.7328	H	0.96175	3.78	0.37241	D	0.906133	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.96	D	0.94125	0.7383	10	0.87932	D	0	.	10.9912	0.47551	0.0928:0.0:0.9072:0.0	.	345;345	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	K	345	ENSP00000338627:Q345K;ENSP00000404022:Q345K	ENSP00000338627:Q345K	Q	-	1	0	SLC6A16	54504141	1.000000	0.71417	0.004000	0.12327	0.002000	0.02628	5.199000	0.65152	1.444000	0.47605	0.561000	0.74099	CAA		0.483	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		8	279	1	0	3.09899e-07	1	3.19013e-07	8	279				
MUSTN1	389125	broad.mit.edu	37	3	52867695	52867695	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:52867695C>A	ENST00000446157.2	-	2	350	c.80G>T	c.(79-81)cGa>cTa	p.R27L	ITIH4_ENST00000266041.4_5'Flank|TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.R317L|ITIH4_ENST00000434759.3_5'Flank|MUSTN1_ENST00000486659.1_Missense_Mutation_p.R32L|RP5-966M1.6_ENST00000513520.1_5'Flank|ITIH4_ENST00000346281.5_5'Flank|RP5-966M1.6_ENST00000468472.1_Missense_Mutation_p.R27L	NM_205853.3	NP_995325	Q8IVN3	MSTN1_HUMAN	musculoskeletal, embryonic nuclear protein 1	27						nucleus (GO:0005634)		p.R27L(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.56e-05)|Kidney(197;0.000586)|KIRC - Kidney renal clear cell carcinoma(197;0.000755)|OV - Ovarian serous cystadenocarcinoma(275;0.0471)		CAGGTTTCCTCGGGCCCCCTT	0.577																																						ENST00000504329.1																			1	Substitution - Missense(1)	p.R27L(1)	prostate(1)								c.(949-951)cGa>cTa									120.0	122.0	122.0					3																	52867695		1915	4132	6047	SO:0001583	missense	0							g.chr3:52867695C>A		CCDS46846.1	3p21.31	2004-03-10				ENSG00000272573			22144	protein-coding gene	gene with protein product							Standard	NM_205853		Approved	Mustang		Q8IVN3		ENST00000446157.2:c.80G>T	3.37:g.52867695C>A	ENSP00000410910:p.Arg27Leu					MUSTN1_ENST00000486659.1_Missense_Mutation_p.R32L|MUSTN1_ENST00000446157.2_Missense_Mutation_p.R27L	p.R317L	NM_001198974.2	NP_001185903.2					9	1061	-									Missense_Mutation	SNP	ENST00000446157.2	37	c.950G>T	CCDS46846.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017760	0.93404	.	.	ENSG00000243696;ENSG00000243696;ENSG00000248592;ENSG00000248592	ENST00000486659;ENST00000446157;ENST00000514466;ENST00000504329	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.53722	0.1814	L	0.34521	1.04	0.35834	D	0.825558	P;D	0.57571	0.798;0.98	B;P	0.53861	0.319;0.736	T	0.65187	-0.6229	8	0.87932	D	0	-2.2501	12.1579	0.54087	0.0:0.9216:0.0:0.0784	.	317;27	A8MSY1;Q8IVN3	.;MSTN1_HUMAN	L	32;27;128;317	.	ENSP00000410910:R27L	R	-	2	0	TMEM110-MUSTN1;MUSTN1	52842735	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.389000	0.52516	2.452000	0.82932	0.455000	0.32223	CGA		0.577	MUSTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352933.2	XM_371644		2	8	1	0	1	1	1	2	8				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	69	0	0	0	1	0	4	69				
KIF3B	9371	broad.mit.edu	37	20	30898587	30898587	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr20:30898587G>A	ENST00000375712.3	+	2	1174	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	KIF3B_ENST00000418717.2_Missense_Mutation_p.R24H	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	336	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R336H(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TATGCCAACCGTGCCAAAAAC	0.532																																						ENST00000375712.3																			2	Substitution - Missense(2)	p.R336H(2)	prostate(1)|lung(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1006-1008)cGt>cAt		kinesin family member 3B							76.0	62.0	67.0					20																	30898587		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898587G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1007G>A	20.37:g.30898587G>A	ENSP00000364864:p.Arg336His					KIF3B_ENST00000418717.2_Missense_Mutation_p.R24H	p.R336H	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1174	+			336			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1007G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449843	0.84101	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.78595	-1.19;-1.02	4.68	4.68	0.58851	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93220	0.7840	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.96111	0.9077	10	0.87932	D	0	.	17.7824	0.88528	0.0:0.0:1.0:0.0	.	24;336;336	B4DSR5;B4DYF2;O15066	.;.;KIF3B_HUMAN	H	336;24	ENSP00000364864:R336H;ENSP00000406287:R24H	ENSP00000364864:R336H	R	+	2	0	KIF3B	30362248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.433000	0.82419	0.462000	0.41574	CGT		0.532	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		12	91	0	0	0	1	0	12	91				
CHL1	10752	broad.mit.edu	37	3	403423	403423	+	Missense_Mutation	SNP	G	G	A	rs368839091		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:403423G>A	ENST00000256509.2	+	13	1990	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	CHL1-AS1_ENST00000608098.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.A434T|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A450T(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAAATTACGCTACAGTGGT	0.398																																						ENST00000256509.2																			1	Substitution - Missense(1)	p.A450T(1)	prostate(1)	NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(1348-1350)Gct>Act		cell adhesion molecule L1-like		G	THR/ALA	0,4406		0,0,2203	236.0	226.0	229.0		1348	4.3	0.0	3		229	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHL1	NM_006614.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	450/1225	403423	1,13005	2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:403423G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1348G>A	3.37:g.403423G>A	ENSP00000256509:p.Ala450Thr					CHL1_ENST00000397491.2_Missense_Mutation_p.A434T	p.A450T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	13	1990	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	434			Ig-like C2-type 5.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1348G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271855	0.40194	0.0	1.16E-4	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.66280	-0.2;-0.2	5.24	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.124363	0.56097	D	0.000032	T	0.49372	0.1553	N	0.20445	0.575	0.27346	N	0.956385	P;B;P	0.44006	0.545;0.232;0.824	B;B;B	0.42738	0.09;0.09;0.396	T	0.42258	-0.9462	10	0.30078	T	0.28	.	14.2853	0.66243	0.0:0.1486:0.8514:0.0	.	434;434;450	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	T	450;434	ENSP00000256509:A450T;ENSP00000380628:A434T	ENSP00000256509:A450T	A	+	1	0	CHL1	378423	0.821000	0.29204	0.014000	0.15608	0.687000	0.40016	4.043000	0.57354	1.298000	0.44778	0.563000	0.77884	GCT		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		10	348	0	0	0	1	0	10	348				
EPHA5	2044	broad.mit.edu	37	4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	462	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.V462E(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGTGGTTACATTTACAGA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			2	Substitution - Missense(2)	p.V462E(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1384-1386)gTa>gAa		EPH receptor A5							80.0	64.0	70.0					4																	66356112		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356112A>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1385T>A	4.37:g.66356112A>T	ENSP00000273854:p.Val462Glu	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron	p.V462E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			5	1985	-			462					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1385T>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589514	0.86851	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57273	0.41;0.41;0.41	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.76463	0.3991	M	0.86740	2.835	0.58432	D	0.999998	D;D;D;D	0.89917	0.987;0.989;0.992;1.0	P;P;D;D	0.70227	0.833;0.863;0.92;0.968	T	0.80845	-0.1200	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	462;462;462;462	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	E	462	ENSP00000273854:V462E;ENSP00000346899:V462E;ENSP00000427638:V462E	ENSP00000273854:V462E	V	-	2	0	EPHA5	66038707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	GTA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		6	91	0	0	0	1	0	6	91				
TIMELESS	8914	broad.mit.edu	37	12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:56811998T>C	ENST00000553532.1	-	27	3524	c.3374A>G	c.(3373-3375)cAc>cGc	p.H1125R	TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R|TIMELESS_ENST00000229201.4_Missense_Mutation_p.H1124R					timeless circadian clock									p.H1125R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTTTACAGTGCTCCTCATC	0.582																																						ENST00000229201.4																			1	Substitution - Missense(1)	p.H1125R(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3370-3372)cAc>cGc		timeless circadian clock							151.0	159.0	157.0					12																	56811998		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811998T>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3374A>G	12.37:g.56811998T>C	ENSP00000450607:p.His1125Arg					TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R	p.H1124R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			27	3525	-			1125						Missense_Mutation	SNP	ENST00000553532.1	37	c.3371A>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758030	0.31137	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.10960	3.35;3.35;2.82	5.26	2.65	0.31530	Timeless C-terminal (1);	0.527781	0.19233	N	0.119343	T	0.08358	0.0208	L	0.36672	1.1	0.20873	N	0.999837	B	0.22983	0.078	B	0.22880	0.042	T	0.35450	-0.9788	10	0.15499	T	0.54	.	10.3095	0.43699	0.0:0.0:0.3138:0.6862	.	1125	Q9UNS1	TIM_HUMAN	R	1124;1125;622	ENSP00000229201:H1124R;ENSP00000450607:H1125R;ENSP00000450848:H622R	ENSP00000229201:H1125R	H	-	2	0	TIMELESS	55098265	0.296000	0.24398	0.892000	0.35008	0.200000	0.23975	0.858000	0.27845	0.906000	0.36621	0.533000	0.62120	CAC		0.582	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		90	562	0	0	0	1	0	90	562				
ZNRF4	148066	broad.mit.edu	37	19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:5456787C>T	ENST00000222033.4	+	1	1362	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	429						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q429*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCCCCTGGTCAGTAAAGATC	0.582																																						ENST00000222033.4																			1	Substitution - Nonsense(1)	p.Q429*(1)	prostate(1)	NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1285-1287)Cag>Tag		zinc and ring finger 4							12.0	12.0	12.0					19																	5456787		1867	4065	5932	SO:0001587	stop_gained	148066					integral to membrane	zinc ion binding	g.chr19:5456787C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1285C>T	19.37:g.5456787C>T	ENSP00000222033:p.Gln429*						p.Q429*	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1362	+			429					A8K886|O75866	Nonsense_Mutation	SNP	ENST00000222033.4	37	c.1285C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145487	0.37825	.	.	ENSG00000105428	ENST00000222033	.	.	.	2.87	-3.66	0.04489	.	31.807900	0.00846	U	0.001784	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.3324	0.04239	0.4046:0.288:0.0:0.3073	.	.	.	.	X	429	.	ENSP00000222033:Q429X	Q	+	1	0	ZNRF4	5407787	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.752000	0.00190	-0.296000	0.08947	-0.254000	0.11334	CAG		0.582	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		9	37	0	0	0	1	0	9	37				
KBTBD7	84078	broad.mit.edu	37	13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:41767606T>C	ENST00000379483.3	-	1	1096	c.788A>G	c.(787-789)aAg>aGg	p.K263R		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	263								p.K263R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGCACGCACTTGAAGACTTC	0.537																																						ENST00000379483.3																			1	Substitution - Missense(1)	p.K263R(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(787-789)aAg>aGg		kelch repeat and BTB (POZ) domain containing 7							65.0	67.0	66.0					13																	41767606		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767606T>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.788A>G	13.37:g.41767606T>C	ENSP00000368797:p.Lys263Arg						p.K263R	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1096	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	263					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.788A>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	7.600	0.672492	0.14776	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.68903	-0.36	4.98	2.21	0.28008	BTB/Kelch-associated (2);	0.499292	0.19859	N	0.104468	T	0.37892	0.1020	N	0.03948	-0.315	0.27228	N	0.959472	B	0.10296	0.003	B	0.16289	0.015	T	0.21999	-1.0229	10	0.35671	T	0.21	.	6.4282	0.21782	0.0:0.3115:0.0:0.6885	.	263	Q8WVZ9	KBTB7_HUMAN	R	263;165	ENSP00000368797:K263R	ENSP00000368797:K263R	K	-	2	0	KBTBD7	40665606	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.427000	0.34881	0.742000	0.32697	0.455000	0.32223	AAG		0.537	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		4	114	0	0	0	1	0	4	114				
CD1E	913	broad.mit.edu	37	1	158325255	158325255	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:158325255G>T	ENST00000368167.3	+	3	760	c.521G>T	c.(520-522)cGc>cTc	p.R174L	CD1E_ENST00000444681.2_Missense_Mutation_p.R75L|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	174					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.R174L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGCTCAATCGCTACCTAGAT	0.507																																						ENST00000444681.2																			2	Substitution - Missense(2)	p.R174L(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(223-225)cGc>cTc		CD1e molecule							78.0	78.0	78.0					1																	158325255		1890	4122	6012	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325255G>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.521G>T	1.37:g.158325255G>T	ENSP00000357149:p.Arg174Leu					CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L	p.R75L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	517	+	all_hematologic(112;0.0378)		174					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.224G>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.043976	0.08196	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.19105	2.17;3.3;2.17;2.17;2.17;2.17	4.53	-9.07	0.00724	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	3.060610	0.01167	N	0.006772	T	0.02047	0.0064	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0;0.001;0.001	T	0.15206	-1.0445	10	0.30854	T	0.27	1.2295	7.0812	0.25231	0.2833:0.0971:0.5237:0.0959	.	75;172;75;174;174;174;174	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	L	172;75;174;174;174;174	ENSP00000401957:R172L;ENSP00000402906:R75L;ENSP00000357149:R174L;ENSP00000357145:R174L;ENSP00000357142:R174L;ENSP00000357143:R174L	ENSP00000357142:R174L	R	+	2	0	CD1E	156591879	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.102000	0.00603	-2.758000	0.00371	-1.987000	0.00451	CGC		0.507	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		38	140	1	0	4.62619e-21	1	5.05989e-21	38	140				
CSN1S1	1446	broad.mit.edu	37	4	70798273	70798273	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank|CSN1S1_ENST00000505782.1_5'Flank	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCTGATAACCATGAGGCTTC	0.353																																						ENST00000246891.4																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7								casein alpha s1							66.0	63.0	64.0					4																	70798273		1831	4082	5913			0					extracellular region	protein binding|transporter activity	g.chr4:70798273C>A	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843		4.37:g.70798273C>A						CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_Intron|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_Intron		NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN			0	49	+								A1A510|A1A511|E9PB60|Q4PNR5	Translation_Start_Site	SNP	ENST00000246891.4	37		CCDS47067.1																																																																																				0.353	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			4	21	1	0	0.014758	1	0.0149719	4	21				
MLLT10	8028	broad.mit.edu	37	10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr10:21962615T>A	ENST00000307729.7	+	11	1566	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000377072.3_Missense_Mutation_p.V463E			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		2	Substitution - Missense(2)	p.V463E(2)	prostate(2)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1387-1389)gTa>gAa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							102.0	112.0	108.0					10																	21962615		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962615T>A	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1388T>A	10.37:g.21962615T>A	ENSP00000307411:p.Val463Glu					MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E	p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			11	1736	+			463			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.1388T>A	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.158125|4.158125	0.78114|0.78114	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639|ENST00000420525	T;T;T;T|.	0.17213|.	2.29;2.3;2.29;2.3|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.124593|.	0.53938|.	D|.	0.000047|.	T|.	0.63977|.	0.2557|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.62365|.	0.978;0.988;0.91;0.991|.	P;P;P;P|.	0.57620|.	0.732;0.771;0.502;0.824|.	T|.	0.61850|.	-0.6978|.	10|.	0.56958|.	D|.	0.05|.	.|.	15.3441|15.3441	0.74320|0.74320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	309;463;463;463|.	F5H541;E9PBP4;Q5VX90;P55197|.	.;.;.;AF10_HUMAN|.	E|K	463;463;463;309;463;106;105|37	ENSP00000366272:V463E;ENSP00000401406:V463E;ENSP00000307411:V463E;ENSP00000366258:V463E|.	ENSP00000307411:V463E|.	V|X	+|+	2|1	0|0	MLLT10|MLLT10	22002621|22002621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.181000|6.181000	0.71988|0.71988	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GTA|TAA		0.398	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			14	325	0	0	0	1	0	14	325				
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		7	142						7	142	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014150	56014151	+	RNA	INS	-	-	A	rs66533357		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr14:56014150_56014151insA	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aacactgtctcaaaaaaaaaaa	0.46																																						ENST00000554558.1																			0																																																			0							g.chr14:56014150_56014151insA			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014161_56014161dupA														0	364	-									RNA	INS	ENST00000554558.1	37																																																																																						0.460	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		4	6						4	6	---	---	---	---
