#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
KCND3	3752	broad.mit.edu	37	1	112524826	112524826	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr1:112524826T>C	ENST00000315987.2	-	2	1002	c.523A>G	c.(523-525)Aac>Gac	p.N175D	KCND3_ENST00000302127.4_Missense_Mutation_p.N175D|KCND3_ENST00000369697.1_Missense_Mutation_p.N175D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	175					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTGTGGGGGTTCTCGAAGGCC	0.627																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(523-525)Aac>Gac		potassium voltage-gated channel, Shal-related subfamily, member 3							47.0	44.0	45.0					1																	112524826		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524826T>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.523A>G	1.37:g.112524826T>C	ENSP00000319591:p.Asn175Asp					KCND3_ENST00000315987.2_Missense_Mutation_p.N175D|KCND3_ENST00000302127.4_Missense_Mutation_p.N175D	p.N175D			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	592	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	175					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.523A>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843455	0.51057	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96885	-4.16;-4.16;-4.16	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	L	0.47190	1.495	0.80722	D	1	B;B	0.18310	0.027;0.027	B;B	0.20184	0.028;0.028	D	0.90113	0.4193	10	0.52906	T	0.07	.	15.2726	0.73717	0.0:0.0:0.0:1.0	.	175;175	Q14D71;Q9UK17	.;KCND3_HUMAN	D	175	ENSP00000358711:N175D;ENSP00000319591:N175D;ENSP00000306923:N175D	ENSP00000306923:N175D	N	-	1	0	KCND3	112326349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.139000	0.71728	2.094000	0.63399	0.460000	0.39030	AAC		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	44	0	0	0	1	0	9	44				
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																						ENST00000414583.2																			0																																																			0							g.chr22:24659813C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T								NR_003714.1						0	3338	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	8	0	0	0	1	0	3	8				
MRPS18C	51023	broad.mit.edu	37	4	84377236	84377236	+	Silent	SNP	C	C	T			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr4:84377236C>T	ENST00000295491.4	+	1	119	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MRPS18C_ENST00000507019.1_Silent_p.A2A|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank|MRPS18C_ENST00000507349.1_Silent_p.A2A	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	2					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				GAACCATGGCCGCTGTGGTTG	0.562																																						ENST00000295491.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(4-6)gcC>gcT		mitochondrial ribosomal protein S18C							189.0	196.0	194.0					4																	84377236		2203	4300	6503	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377236C>T		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.6C>T	4.37:g.84377236C>T						MRPS18C_ENST00000507349.1_Silent_p.A2A|MRPS18C_ENST00000507019.1_Silent_p.A2A	p.A2A	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN			1	119	+		Hepatocellular(203;0.114)	2						Silent	SNP	ENST00000295491.4	37	c.6C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.072	0.199022	0.09652	.	.	ENSG00000163319	ENST00000509970	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.77574	-0.2537	4	.	.	.	-12.2571	2.1703	0.03847	0.137:0.2559:0.3103:0.2968	.	.	.	.	C	1	.	.	R	+	1	0	MRPS18C	84596260	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.587000	0.00060	-9.921000	0.00000	-1.812000	0.00611	CGC		0.562	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			37	169	0	0	0	1	0	37	169				
SNX20	124460	broad.mit.edu	37	16	50707544	50707544	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr16:50707544G>A	ENST00000330943.4	-	4	895	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	242					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCGGCGGGGCGGTCGAGGTCG	0.756																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(724-726)Cgc>Tgc		sorting nexin 20																																				SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707544G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.724C>T	16.37:g.50707544G>A	ENSP00000332062:p.Arg242Cys					SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R242C	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	895	-			242					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.724C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502777	0.44558	.	.	ENSG00000167208	ENST00000330943	T	0.68331	-0.32	5.78	2.76	0.32466	.	0.529691	0.20997	N	0.081932	T	0.56514	0.1990	M	0.63428	1.95	0.20563	N	0.99989	B	0.19935	0.04	B	0.12837	0.008	T	0.54536	-0.8279	10	0.62326	D	0.03	-12.7786	2.3569	0.04298	0.1463:0.1218:0.4538:0.2781	.	242	Q7Z614	SNX20_HUMAN	C	242	ENSP00000332062:R242C	ENSP00000332062:R242C	R	-	1	0	SNX20	49265045	0.836000	0.29430	0.125000	0.21846	0.502000	0.33828	1.158000	0.31737	0.370000	0.24538	0.561000	0.74099	CGC		0.756	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		5	18	0	0	0	1	0	5	18				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			0							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	10	0	0	0	1	0	3	10				
KIAA0391	9692	broad.mit.edu	37	14	35742769	35742769	+	Silent	SNP	A	A	G			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:35742769A>G	ENST00000557565.1	+	8	2130	c.1749A>G	c.(1747-1749)acA>acG	p.T583T	KIAA0391_ENST00000604948.1_Silent_p.T488T|KIAA0391_ENST00000605870.1_Silent_p.T211T|KIAA0391_ENST00000603544.1_Silent_p.T567T|KIAA0391_ENST00000534898.4_Silent_p.T583T|KIAA0391_ENST00000250377.7_Silent_p.T488T|KIAA0391_ENST00000321130.10_Silent_p.T567T	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	583					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ACCAAAAGACATAGAGATTCT	0.453																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1747-1749)acA>acG		KIAA0391							100.0	87.0	92.0					14																	35742769		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35742769A>G	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1749A>G	14.37:g.35742769A>G						KIAA0391_ENST00000250377.7_Silent_p.T488T|KIAA0391_ENST00000321130.10_Silent_p.T567T|KIAA0391_ENST00000604948.1_Silent_p.T488T|KIAA0391_ENST00000603544.1_Silent_p.T567T|KIAA0391_ENST00000534898.4_Silent_p.T583T|KIAA0391_ENST00000605870.1_Silent_p.T211T	p.T583T			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	8	2130	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		583					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.1749A>G	CCDS32063.1																																																																																				0.453	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	41	0	0	0	1	0	4	41				
WRN	7486	broad.mit.edu	37	8	30998961	30998961	+	Missense_Mutation	SNP	G	G	A	rs140768346	byFrequency	TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr8:30998961G>A	ENST00000298139.5	+	25	3232	c.2983G>A	c.(2983-2985)Gcc>Acc	p.A995T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	995					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCAGCGTCTTGCCGATCAATA	0.378			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				G|||	4	0.000798722	0.0	0.0	5008	,	,		18656	0.0		0.002	False		,,,				2504	0.002				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2983-2985)Gcc>Acc	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	87.0		2983	-2.4	0.0	8	dbSNP_134	87	26,8574	17.9+/-57.8	0,26,4274	yes	missense	WRN	NM_000553.4	58	0,27,6476	AA,AG,GG		0.3023,0.0227,0.2076	benign	995/1433	30998961	27,12979	2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30998961G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2983G>A	8.37:g.30998961G>A	ENSP00000298139:p.Ala995Thr						p.A995T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	25	3232	+		Breast(100;0.195)	995					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2983G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021565	0.19433	2.27E-4	0.003023	ENSG00000165392	ENST00000298139	T	0.30448	1.53	5.32	-2.44	0.06502	RQC domain (2);	0.630262	0.15632	N	0.252354	T	0.25754	0.0627	N	0.20881	0.62	0.21782	N	0.999545	B;B	0.16396	0.002;0.017	B;B	0.25140	0.038;0.058	T	0.22068	-1.0227	10	0.25751	T	0.34	0.6781	25.3341	0.99994	0.0:0.8642:0.1358:0.0	.	405;995	Q59F09;Q14191	.;WRN_HUMAN	T	995	ENSP00000298139:A995T	ENSP00000298139:A995T	A	+	1	0	WRN	31118503	0.332000	0.24722	0.017000	0.16124	0.492000	0.33523	0.170000	0.16663	-0.389000	0.07786	0.585000	0.79938	GCC		0.378	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			4	51	0	0	0	1	0	4	51				
RNF215	200312	broad.mit.edu	37	22	30776280	30776280	+	Silent	SNP	G	G	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr22:30776280G>A	ENST00000382363.3	-	6	929	c.855C>T	c.(853-855)ctC>ctT	p.L285L	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	285						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCTGGCCTCCGAGCTCCCGCT	0.687																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(853-855)ctC>ctT		ring finger protein 215							29.0	35.0	33.0					22																	30776280		2202	4296	6498	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776280G>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.855C>T	22.37:g.30776280G>A							p.L285L	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			6	929	-			285					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.855C>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	6.709	0.499460	0.12762	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.94	-7.88	0.01178	.	.	.	.	.	T	0.38321	0.1036	.	.	.	0.38082	D	0.936703	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-41.4287	5.0027	0.14273	0.1503:0.3115:0.4355:0.1027	.	.	.	.	W	223	.	.	R	-	1	2	RNF215	29106280	0.000000	0.05858	0.505000	0.27651	0.840000	0.47671	-1.671000	0.01954	-2.751000	0.00374	-0.304000	0.09214	CGG		0.687	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		9	47	0	0	0	1	0	9	47				
OR51E2	81285	broad.mit.edu	37	11	4703767	4703767	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:4703767A>G	ENST00000396950.3	-	2	414	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	59					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAAAGAGGTACATCGGAGCG	0.512																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(175-177)Tac>Cac		olfactory receptor, family 51, subfamily E, member 2							116.0	97.0	103.0					11																	4703767		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703767A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.175T>C	11.37:g.4703767A>G	ENSP00000380153:p.Tyr59His						p.Y59H	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	414	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.175T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018495	0.75275	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.15487	2.42;2.42	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000756	T	0.47948	0.1473	M	0.89214	3.015	0.51233	D	0.999919	D	0.89917	1.0	D	0.91635	0.999	T	0.57423	-0.7814	10	0.87932	D	0	.	13.681	0.62484	1.0:0.0:0.0:0.0	.	59	Q9H255	O51E2_HUMAN	H	59	ENSP00000380153:Y59H;ENSP00000432644:Y59H	ENSP00000380153:Y59H	Y	-	1	0	OR51E2	4660343	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.050000	0.76620	2.112000	0.64535	0.533000	0.62120	TAC		0.512	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		7	86	0	0	0	1	0	7	86				
CCDC88B	283234	broad.mit.edu	37	11	64124622	64124622	+	3'UTR	SNP	G	G	A	rs61886888	byFrequency	TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:64124622G>A	ENST00000356786.5	+	0	4531				RPS6KA4_ENST00000528057.1_5'Flank|RPS6KA4_ENST00000294261.4_5'Flank|CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000463837.1_3'UTR|RPS6KA4_ENST00000334205.4_5'Flank|CCDC88B_ENST00000359902.2_Missense_Mutation_p.G601R	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B							membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTGTCAGCGGAGGCCCCAG	0.667													G|||	333	0.0664936	0.0204	0.0807	5008	,	,		16123	0.002		0.1948	False		,,,				2504	0.0532					ENST00000359902.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1801-1803)Gga>Aga		coiled-coil domain containing 88B		G		66,1318		0,66,626	45.0	43.0	44.0			-2.2	0.0	11	dbSNP_129	44	569,2613		47,475,1069	no	utr-3	CCDC88B	NM_032251.5		47,541,1695	AA,AG,GG		17.8818,4.7688,13.9071			64124622	635,3931	692	1591	2283	SO:0001624	3_prime_UTR_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64124622G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.*56G>A	11.37:g.64124622G>A						CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR	p.G601R			A6NC98	CC88B_HUMAN			14	1951	+			1424					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1801G>A	CCDS8072.2	201	0.09203296703296704	9	0.018292682926829267	37	0.10220994475138122	0	0.0	155	0.20448548812664907	N	11.85	1.762383	0.31228	0.047688	0.178818	ENSG00000168071	ENST00000359902	T	0.59083	0.29	4.15	-2.22	0.06952	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.80722	P	0.0	B	0.15141	0.012	B	0.08055	0.003	T	0.13629	-1.0502	7	0.51188	T	0.08	.	0.5672	0.00689	0.203:0.1607:0.3095:0.3268	rs61886888	585	A6NC98-5	.	R	601	ENSP00000352974:G601R	ENSP00000352974:G601R	G	+	1	0	CCDC88B	63881198	0.370000	0.25047	0.000000	0.03702	0.144000	0.21451	1.621000	0.36986	-0.284000	0.09102	0.400000	0.26472	GGA		0.667	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	43	0	0	0	1	0	4	43				
XYLT2	64132	broad.mit.edu	37	17	48431804	48431804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:48431804C>T	ENST00000017003.2	+	3	713	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	XYLT2_ENST00000507602.1_Nonsense_Mutation_p.Q222*	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	222					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGATGAGAGCCAAGCCCAGCA	0.657																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(664-666)Caa>Taa		xylosyltransferase II							33.0	35.0	34.0					17																	48431804		2203	4300	6503	SO:0001587	stop_gained	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431804C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.664C>T	17.37:g.48431804C>T	ENSP00000017003:p.Gln222*					XYLT2_ENST00000507602.1_Nonsense_Mutation_p.Q222*	p.Q222*	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	713	+	Breast(11;7.18e-19)		222					Q6UY41|Q86V00	Nonsense_Mutation	SNP	ENST00000017003.2	37	c.664C>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925785	0.52759	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	.	.	.	4.48	3.45	0.39498	.	0.715268	0.14186	N	0.335684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-10.7424	13.9256	0.63961	0.1521:0.8479:0.0:0.0	.	.	.	.	X	222	.	ENSP00000017003:Q222X	Q	+	1	0	XYLT2	45786803	0.000000	0.05858	0.533000	0.28001	0.443000	0.32047	-0.027000	0.12371	2.315000	0.78130	0.313000	0.20887	CAA		0.657	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		7	40	0	0	0	1	0	7	40				
ZCCHC10	54819	broad.mit.edu	37	5	132342584	132342584	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:132342584G>C	ENST00000509437.1	-	3	143	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	ZCCHC10_ENST00000513848.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000508080.1_5'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	46							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCATTTCTGACATCTTACA	0.338																																						ENST00000324170.3																			0				skin(1)	1						c.(70-72)Cag>Gag		zinc finger, CCHC domain containing 10							73.0	66.0	69.0					5																	132342584		2202	4300	6502	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132342584G>C	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.136C>G	5.37:g.132342584G>C	ENSP00000423276:p.Gln46Glu					ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.Q46E	p.Q24E	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	136	-			46					Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.70C>G		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220386	0.79464	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.82	4.82	0.62117	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.86940	0.6054	.	.	.	0.80722	D	1	P;D;P	0.59357	0.954;0.985;0.954	D;D;D	0.73708	0.932;0.981;0.932	D	0.88956	0.3390	9	0.87932	D	0	.	18.2538	0.90012	0.0:0.0:1.0:0.0	.	24;46;24	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	E	24;46;46;24;46;24	ENSP00000324274:Q24E;ENSP00000347533:Q46E;ENSP00000423276:Q46E;ENSP00000427430:Q24E;ENSP00000422111:Q46E;ENSP00000421071:Q24E	ENSP00000324274:Q24E	Q	-	1	0	ZCCHC10	132370483	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.164000	0.94755	2.379000	0.81126	0.467000	0.42956	CAG		0.338	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		6	17	0	0	0	1	0	6	17				
TAF1L	138474	broad.mit.edu	37	9	32634427	32634427	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:32634427C>A	ENST00000242310.4	-	1	1240	c.1151G>T	c.(1150-1152)gGc>gTc	p.G384V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	384					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGTTTGAAGCCATAGTCAAA	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1150-1152)gGc>gTc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							242.0	226.0	231.0					9																	32634427		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634427C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1151G>T	9.37:g.32634427C>A	ENSP00000418379:p.Gly384Val					RP11-555J4.4_ENST00000430787.1_RNA	p.G384V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1240	-			384					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1151G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064317	0.55432	.	.	ENSG00000122728	ENST00000242310	T	0.69926	-0.44	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76626	-0.2890	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	384	Q8IZX4	TAF1L_HUMAN	V	384	ENSP00000418379:G384V	ENSP00000418379:G384V	G	-	2	0	TAF1L	32624427	1.000000	0.71417	0.989000	0.46669	0.435000	0.31806	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	GGC		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			35	146	1	0	1.36615e-20	1	1.45428e-20	35	146				
UNC79	57578	broad.mit.edu	37	14	94158128	94158128	+	Missense_Mutation	SNP	G	G	A	rs369445399		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:94158128G>A	ENST00000393151.2	+	47	7423	c.7423G>A	c.(7423-7425)Gcg>Acg	p.A2475T	UNC79_ENST00000553484.1_Missense_Mutation_p.A2497T|UNC79_ENST00000555664.1_Missense_Mutation_p.A2436T|UNC79_ENST00000256339.4_Missense_Mutation_p.A2298T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2475					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTCTTCCACGCGTTCATCTT	0.527																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7489-7491)Gcg>Acg		unc-79 homolog (C. elegans)		G	THR/ALA	0,4406		0,0,2203	133.0	111.0	119.0		6892	5.8	0.8	14		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC79	NM_020818.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2298/2459	94158128	1,13005	2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94158128G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7423G>A	14.37:g.94158128G>A	ENSP00000376858:p.Ala2475Thr					UNC79_ENST00000256339.4_Missense_Mutation_p.A2298T|UNC79_ENST00000555664.1_Missense_Mutation_p.A2436T|UNC79_ENST00000393151.2_Missense_Mutation_p.A2475T	p.A2497T			Q9P2D8	UNC79_HUMAN			48	7643	+			2475					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7489G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.467503	0.84533	0.0	1.16E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27104	1.69;1.73;1.69;1.69	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.60845	1.875	0.80722	D	1	B	0.28850	0.225	B	0.28011	0.085	T	0.06661	-1.0814	10	0.62326	D	0.03	-4.428	20.0321	0.97543	0.0:0.0:1.0:0.0	.	2497	C9JQL1	.	T	2298;2436;2497;2475;2497	ENSP00000256339:A2298T;ENSP00000450868:A2436T;ENSP00000451360:A2497T;ENSP00000376858:A2475T	ENSP00000256339:A2298T	A	+	1	0	KIAA1409	93227881	1.000000	0.71417	0.785000	0.31869	0.971000	0.66376	9.808000	0.99193	2.728000	0.93425	0.655000	0.94253	GCG		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		9	93	0	0	0	1	0	9	93				
ARCN1	372	broad.mit.edu	37	11	118455206	118455206	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:118455206C>T	ENST00000264028.4	+	5	760	c.665C>T	c.(664-666)cCc>cTc	p.P222L	ARCN1_ENST00000392859.3_Missense_Mutation_p.P134L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.P263L	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	222					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTTCAGGCCCCAGCAAGGCT	0.393																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(787-789)cCc>cTc		archain 1							52.0	51.0	52.0					11																	118455206		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118455206C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.665C>T	11.37:g.118455206C>T	ENSP00000264028:p.Pro222Leu					ARCN1_ENST00000264028.4_Missense_Mutation_p.P222L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.P134L	p.P263L			P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	6	953	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	222					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.788C>T	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777276	0.70107	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.52057	0.68;0.68;0.68	5.65	5.65	0.86999	.	0.051399	0.85682	D	0.000000	T	0.46776	0.1410	L	0.50333	1.59	0.80722	D	1	B;B;B	0.20459	0.016;0.045;0.001	B;B;B	0.18263	0.004;0.021;0.004	T	0.30001	-0.9993	10	0.37606	T	0.19	-2.7327	19.3272	0.94267	0.0:1.0:0.0:0.0	.	134;263;222	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	L	134;263;222	ENSP00000376599:P134L;ENSP00000352385:P263L;ENSP00000264028:P222L	ENSP00000264028:P222L	P	+	2	0	ARCN1	117960416	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.431000	0.80335	2.668000	0.90789	0.655000	0.94253	CCC		0.393	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			5	29	0	0	0	1	0	5	29				
C12orf66	144577	broad.mit.edu	37	12	64587880	64587880	+	Silent	SNP	G	G	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr12:64587880G>A	ENST00000398055.3	-	3	1133	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	C12orf66_ENST00000311915.8_Silent_p.H360H|C12orf66_ENST00000544871.1_Silent_p.H307H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	360										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CATTGGGCCAGTGCATGACTG	0.522																																						ENST00000311915.8																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(1078-1080)caC>caT		chromosome 12 open reading frame 66							102.0	98.0	99.0					12																	64587880		1990	4178	6168	SO:0001819	synonymous_variant	144577							g.chr12:64587880G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1080C>T	12.37:g.64587880G>A						C12orf66_ENST00000398055.3_Silent_p.H360H|C12orf66_ENST00000544871.1_Silent_p.H307H	p.H360H			Q96MD2	CL066_HUMAN			3	1107	-			360					C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	c.1080C>T	CCDS41803.1																																																																																				0.522	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		9	112	0	0	0	1	0	9	112				
ZNF438	220929	broad.mit.edu	37	10	31138963	31138963	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr10:31138963T>C	ENST00000361310.3	-	6	700	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF438_ENST00000444692.2_Missense_Mutation_p.Y114C|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_Missense_Mutation_p.Y124C|ZNF438_ENST00000538351.2_Missense_Mutation_p.Y75C|ZNF438_ENST00000331737.6_Missense_Mutation_p.Y114C|ZNF438_ENST00000442986.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000413025.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000452305.1_Missense_Mutation_p.Y114C			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	124					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGGGGGTTGATATCTAGGAAT	0.448																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(223-225)tAt>tGt		zinc finger protein 438							156.0	167.0	164.0					10																	31138963		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138963T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.371A>G	10.37:g.31138963T>C	ENSP00000354663:p.Tyr124Cys					ZNF438_ENST00000331737.6_Missense_Mutation_p.Y114C|ZNF438_ENST00000444692.2_Missense_Mutation_p.Y114C|ZNF438_ENST00000361310.3_Missense_Mutation_p.Y124C|ZNF438_ENST00000452305.1_Missense_Mutation_p.Y114C|ZNF438_ENST00000436087.2_Missense_Mutation_p.Y124C|ZNF438_ENST00000442986.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000413025.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000375311.1_Intron	p.Y75C	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	978	-		Prostate(175;0.0587)	124					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.224A>G	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288395	0.80803	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.63	5.63	0.86233	.	0.054254	0.85682	D	0.000000	T	0.76521	0.3999	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79921	-0.1599	10	0.87932	D	0	-27.2982	15.0111	0.71550	0.0:0.0:0.0:1.0	.	124;114	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	C	114;124;124;124;124;114;114;75	ENSP00000333571:Y114C;ENSP00000354663:Y124C;ENSP00000406934:Y124C;ENSP00000412363:Y124C;ENSP00000387546:Y124C;ENSP00000413060:Y114C;ENSP00000410898:Y114C;ENSP00000445461:Y75C	ENSP00000333571:Y114C	Y	-	2	0	ZNF438	31178969	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	5.664000	0.68045	2.144000	0.66660	0.533000	0.62120	TAT		0.448	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		7	100	0	0	0	1	0	7	100				
TMEM203	94107	broad.mit.edu	37	9	140099754	140099754	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:140099754T>C	ENST00000343666.5	-	1	336	c.113A>G	c.(112-114)gAt>gGt	p.D38G	TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank|TMEM203_ENST00000537254.1_Missense_Mutation_p.D38G|NDOR1_ENST00000371521.4_5'Flank|NDOR1_ENST00000427047.2_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	38						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCAGGCCATCCACACGCAG	0.637																																						ENST00000343666.5																			0				central_nervous_system(1)|kidney(1)	2						c.(112-114)gAt>gGt		transmembrane protein 203							45.0	47.0	46.0					9																	140099754		2200	4289	6489	SO:0001583	missense	94107					integral to membrane		g.chr9:140099754T>C	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"""HBeAg-binding protein 1"""					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.113A>G	9.37:g.140099754T>C	ENSP00000375053:p.Asp38Gly					TMEM203_ENST00000537254.1_Missense_Mutation_p.D38G	p.D38G	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	336	-	all_cancers(76;0.0926)		38					Q6NW08	Missense_Mutation	SNP	ENST00000343666.5	37	c.113A>G	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995212	0.74703	.	.	ENSG00000187713	ENST00000343666;ENST00000537254	T;T	0.33216	1.42;1.42	3.96	2.81	0.32909	.	0.000000	0.64402	U	0.000002	T	0.39358	0.1075	L	0.45285	1.41	0.53688	D	0.999978	D	0.67145	0.996	D	0.64144	0.922	T	0.13899	-1.0492	10	0.62326	D	0.03	.	6.8824	0.24181	0.0:0.1101:0.0:0.8899	.	38	Q969S6	TM203_HUMAN	G	38	ENSP00000375053:D38G;ENSP00000446302:D38G	ENSP00000375053:D38G	D	-	2	0	TMEM203	139219575	1.000000	0.71417	0.990000	0.47175	0.780000	0.44128	7.602000	0.82796	0.583000	0.29574	0.533000	0.62120	GAT		0.637	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		3	20	0	0	0	1	0	3	20				
RAI14	26064	broad.mit.edu	37	5	34808710	34808710	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:34808710C>A	ENST00000265109.3	+	7	688	c.401C>A	c.(400-402)gCt>gAt	p.A134D	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Missense_Mutation_p.A137D|RAI14_ENST00000506376.1_Missense_Mutation_p.A126D|RAI14_ENST00000512629.1_Missense_Mutation_p.A134D|RAI14_ENST00000428746.2_Missense_Mutation_p.A134D|RAI14_ENST00000503673.1_Missense_Mutation_p.A134D|RAI14_ENST00000397449.1_Missense_Mutation_p.A127D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	134						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGCCTTCAAGCTGTGCAGATT	0.478																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(400-402)gCt>gAt		retinoic acid induced 14							122.0	109.0	113.0					5																	34808710		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34808710C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.401C>A	5.37:g.34808710C>A	ENSP00000265109:p.Ala134Asp					RAI14_ENST00000512629.1_Missense_Mutation_p.A134D|RAI14_ENST00000397449.1_Missense_Mutation_p.A127D|RAI14_ENST00000503673.1_Missense_Mutation_p.A134D|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.A126D|RAI14_ENST00000515799.1_Missense_Mutation_p.A137D|RAI14_ENST00000428746.2_Missense_Mutation_p.A134D	p.A134D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			7	688	+	all_lung(31;0.000191)		134					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.401C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276087	0.59649	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.16;-0.26;-0.26;-0.26;-0.26;-0.16;-0.26;-0.26	5.5	4.64	0.57946	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.71091	0.3299	M	0.70108	2.13	0.38192	D	0.939947	P;P;P;P	0.51147	0.879;0.942;0.903;0.942	B;P;P;P	0.51079	0.426;0.658;0.508;0.658	T	0.75682	-0.3233	9	0.59425	D	0.04	-1.5623	8.9142	0.35572	0.0:0.7728:0.1491:0.0781	.	126;134;137;134	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	134;134;134;134;134;137;134;126;127	ENSP00000265109:A134D;ENSP00000424879:A134D;ENSP00000422377:A134D;ENSP00000388725:A134D;ENSP00000422942:A134D;ENSP00000427123:A137D;ENSP00000425115:A134D;ENSP00000423854:A126D;ENSP00000380591:A127D	ENSP00000265109:A134D	A	+	2	0	RAI14	34844467	0.996000	0.38824	0.989000	0.46669	0.981000	0.71138	1.474000	0.35398	1.319000	0.45190	0.650000	0.86243	GCT		0.478	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		6	37	1	0	3.09899e-07	1	3.19583e-07	6	37				
PRDM15	63977	broad.mit.edu	37	21	43259762	43259762	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr21:43259762G>C	ENST00000269844.3	-	14	2049	c.1939C>G	c.(1939-1941)Cta>Gta	p.L647V	PRDM15_ENST00000398548.1_Missense_Mutation_p.L318V|PRDM15_ENST00000447207.2_Missense_Mutation_p.L281V|PRDM15_ENST00000422911.1_Missense_Mutation_p.L318V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L281V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACGATGACTAGAGGCTGCTCA	0.617																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(952-954)Cta>Gta		PR domain containing 15							168.0	164.0	165.0					21																	43259762		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43259762G>C	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1939C>G	21.37:g.43259762G>C	ENSP00000269844:p.Leu647Val					PRDM15_ENST00000447207.2_Missense_Mutation_p.L281V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L281V|PRDM15_ENST00000398548.1_Missense_Mutation_p.L318V|PRDM15_ENST00000269844.3_Missense_Mutation_p.L647V	p.L318V			P57071	PRD15_HUMAN			7	1053	-			647					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.952C>G	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833905	0.32421	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.08720	3.14;3.14;3.15;3.14;3.06	4.67	2.72	0.32119	.	.	.	.	.	T	0.07098	0.0180	L	0.31294	0.92	0.33270	D	0.56089	B;B;B	0.21071	0.051;0.007;0.003	B;B;B	0.14023	0.01;0.004;0.002	T	0.07195	-1.0785	9	0.52906	T	0.07	-3.6198	10.5143	0.44881	0.0763:0.1331:0.7906:0.0	.	647;318;318	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	318;318;281;281;647;281	ENSP00000408592:L318V;ENSP00000381556:L318V;ENSP00000444044:L281V;ENSP00000390245:L281V;ENSP00000269844:L647V	ENSP00000269844:L647V	L	-	1	2	PRDM15	42132831	0.650000	0.27331	0.229000	0.23960	0.291000	0.27294	2.824000	0.48088	1.099000	0.41499	0.591000	0.81541	CTA		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		12	253	0	0	0	1	0	12	253				
VMP1	81671	broad.mit.edu	37	17	57915689	57915689	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:57915689G>C	ENST00000262291.4	+	11	1318	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	VMP1_ENST00000536180.1_Missense_Mutation_p.K239N|VMP1_ENST00000537567.1_Missense_Mutation_p.K202N|VMP1_ENST00000539763.1_Missense_Mutation_p.K144N|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.K280N|MIR21_ENST00000362134.1_RNA	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	336					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTCTGCAGAAGCCATTTCAGG	0.493																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(1006-1008)aaG>aaC		vacuole membrane protein 1							86.0	82.0	84.0					17																	57915689		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57915689G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1008G>C	17.37:g.57915689G>C	ENSP00000262291:p.Lys336Asn					VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.K144N|VMP1_ENST00000537567.1_Missense_Mutation_p.K202N|VMP1_ENST00000545362.1_Missense_Mutation_p.K280N|VMP1_ENST00000536180.1_Missense_Mutation_p.K239N	p.K336N	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			11	1318	+			336					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1008G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854319	0.71719	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.95	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.54908	1.71	0.80722	D	1	B;D;D;P	0.64830	0.169;0.97;0.994;0.594	B;P;P;B	0.62184	0.092;0.775;0.899;0.234	T	0.59506	-0.7442	9	0.22109	T	0.4	-14.1003	9.0778	0.36534	0.3114:0.0:0.6886:0.0	.	202;239;280;336	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	N	336;202;144;239;280	.	ENSP00000262291:K336N	K	+	3	2	VMP1	55270471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.382000	0.52463	1.518000	0.48934	0.650000	0.86243	AAG		0.493	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		10	52	0	0	0	1	0	10	52				
ITIH4	3700	broad.mit.edu	37	3	52852225	52852225	+	Intron	DEL	G	G	-			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr3:52852225delG	ENST00000266041.4	-	20	2276				ITIH4_ENST00000346281.5_Splice_Site_p.A697fs|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000406595.1_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGGAAGGGCAGGCTGGGGGCA	0.602																																						ENST00000346281.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.e18-1		inter-alpha-trypsin inhibitor heavy chain family, member 4							43.0	54.0	50.0					3																	52852225		2203	4299	6502	SO:0001627	intron_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52852225delG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2180-41C>-	3.37:g.52852225delG						ITIH4_ENST00000266041.4_Intron|ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000406595.1_Intron	p.A697_splice	NM_001166449.1	NP_001159921.1	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	2149	-			725					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Splice_Site	DEL	ENST00000266041.4	37	c.2089_splice	CCDS2865.1																																																																																				0.602	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		8	59						8	59	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	6						5	6	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		4	3						4	3	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106329450	106329451	+	RNA	INS	-	-	ACC	rs2338628|rs67183528|rs376479093|rs74454466	byFrequency	TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:106329450_106329451insACC	ENST00000390560.2	-	0	17_18				IGHD7-27_ENST00000439842.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ3_ENST00000463911.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA					immunoglobulin heavy joining 6																		CAGACGTCCATGTAGTAGTAGT	0.54																																						ENST00000390560.2																			0																																																			0							g.chr14:106329450_106329451insACC	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329450_106329451insACC														0	17_18	-									RNA	INS	ENST00000390560.2	37																																																																																						0.540	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		9	69						9	69	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-	rs148280092		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr21:15436915delG	ENST00000428809.1	+	0	177				AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							CCCCTGGGACGGGGGCCTTGG	0.687																																						ENST00000428809.1																			0																																																			0							g.chr21:15436915delG																													21.37:g.15436915delG														0	177	+									RNA	DEL	ENST00000428809.1	37																																																																																						0.687	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			3	5						3	5	---	---	---	---
