#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
TTN	7273	broad.mit.edu	37	2	179455966	179455966	+	Silent	SNP	T	T	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:179455966T>A	ENST00000591111.1	-	254	55787	c.55563A>T	c.(55561-55563)gtA>gtT	p.V18521V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.V20162V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18521	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTACGGCTACTGTTTTGC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60484-60486)gtA>gtT		titin							227.0	230.0	229.0					2																	179455966		1915	4126	6041	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455966T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55563A>T	2.37:g.179455966T>A						TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V18521V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V20162V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60710	-			18521			Fibronectin type-III 46.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60486A>T																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	113	0	0	0	1	0	55	113				
KIF2B	84643	broad.mit.edu	37	17	51901892	51901892	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:51901892A>C	ENST00000268919.4	+	1	1654	c.1498A>C	c.(1498-1500)Aca>Cca	p.T500P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	500	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			T -> A (in Ref. 1; AAK20830). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCAAACTCACACTGGTGCT	0.502																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1498-1500)Aca>Cca		kinesin family member 2B							51.0	49.0	50.0					17																	51901892		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901892A>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1498A>C	17.37:g.51901892A>C	ENSP00000268919:p.Thr500Pro						p.T500P	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1654	+			500	T -> A (in Ref. 1; AAK20830).				Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1498A>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126060	0.77436	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.50548	0.74	5.73	5.73	0.89815	Kinesin, motor domain (4);	0.000000	0.46145	D	0.000305	D	0.83547	0.5278	H	0.99922	4.955	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.90748	0.4655	10	0.87932	D	0	.	13.6903	0.62542	1.0:0.0:0.0:0.0	.	500	Q8N4N8	KIF2B_HUMAN	P	500;388	ENSP00000268919:T500P	ENSP00000268919:T500P	T	+	1	0	KIF2B	49256891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.257000	0.95545	2.302000	0.77476	0.533000	0.62120	ACA		0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		21	18	0	0	0	1	0	21	18				
TTLL3	26140	broad.mit.edu	37	3	9859359	9859359	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr3:9859359C>T	ENST00000547186.1	+	5	562	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000430793.1_5'Flank|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000383827.1_5'Flank|TTLL3_ENST00000455274.1_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	116					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.P116S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCGGAATTTGCCGTGGTTTGA	0.547																																						ENST00000547186.1																			1	Substitution - Missense(1)	p.P116S(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(346-348)Ccg>Tcg		tubulin tyrosine ligase-like family, member 3							170.0	158.0	162.0					3																	9859359		2057	4209	6266	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9859359C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.346C>T	3.37:g.9859359C>T	ENSP00000446659:p.Pro116Ser					TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR	p.P116S	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			5	562	+	Medulloblastoma(99;0.227)		116					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.346C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.999438|3.999438	0.74818|0.74818	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252;ENST00000452823|ENST00000397256;ENST00000417065;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000443148	.|T;T;T;T;T;T	.|0.42131	.|3.56;0.98;3.53;3.71;3.19;3.76	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|1.037930	.|0.07660	.|U	.|0.933401	T|T	0.49304|0.49304	0.1549|0.1549	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18310	.|0.017;0.027	.|B;B	.|0.20577	.|0.03;0.03	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.21540	.|T	.|0.41	.|.	18.0543|18.0543	0.89360|0.89360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|55;116	.|B4DM47;Q9Y4R7	.|.;TTLL3_HUMAN	V|S	71;66|210;116;259;116;159;54	.|ENSP00000380427:P210S;ENSP00000408128:P116S;ENSP00000392549:P259S;ENSP00000446659:P116S;ENSP00000389904:P159S;ENSP00000398097:P54S	.|ENSP00000380427:P210S	A|P	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9834359|9834359	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.986000|0.986000	0.74619|0.74619	5.259000|5.259000	0.65485|0.65485	2.344000|2.344000	0.79699|0.79699	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.547	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		4	160	0	0	0	1	0	4	160				
POMT2	29954	broad.mit.edu	37	14	77751945	77751945	+	Missense_Mutation	SNP	G	G	A	rs398124261		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr14:77751945G>A	ENST00000261534.4	-	13	1565	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	455	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACCTCAATCCGCCAGAAATCA	0.443																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1363-1365)Cgg>Tgg		protein-O-mannosyltransferase 2							295.0	334.0	321.0					14																	77751945		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751945G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1363C>T	14.37:g.77751945G>A	ENSP00000261534:p.Arg455Trp						p.R455W	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1565	-			455			MIR 2.		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.1363C>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799912	0.70567	.	.	ENSG00000009830	ENST00000261534	D	0.88124	-2.34	5.55	-1.58	0.08479	MIR motif (2);MIR (2);	0.124248	0.56097	D	0.000036	D	0.93278	0.7858	M	0.87038	2.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.72625	0.978	D	0.92884	0.6325	10	0.46703	T	0.11	-19.4424	18.6161	0.91303	0.0:0.0:0.2937:0.7063	.	455	Q9UKY4	POMT2_HUMAN	W	455	ENSP00000261534:R455W	ENSP00000261534:R455W	R	-	1	2	POMT2	76821698	0.991000	0.36638	0.993000	0.49108	0.910000	0.53928	0.145000	0.16157	-0.147000	0.11254	-1.014000	0.02459	CGG		0.443	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		5	563	0	0	0	1	0	5	563				
TRBV5-7	28608	broad.mit.edu	37	7	142111680	142111680	+	RNA	SNP	A	A	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:142111680A>C	ENST00000390378.1	-	0	55									T cell receptor beta variable 5-7 (non-functional)																		TCCAGCGTCCACTGGGCCTGT	0.552																																						ENST00000390378.1																			0																				118.0	114.0	115.0					7																	142111680		1974	4166	6140			28608							g.chr7:142111680A>C	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111680A>C														0	55	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.552	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		4	140	0	0	0	1	0	4	140				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	69	0	0	0	1	0	4	69				
SPTBN2	6712	broad.mit.edu	37	11	66457285	66457285	+	Silent	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr11:66457285C>A	ENST00000533211.1	-	29	6271	c.5940G>T	c.(5938-5940)gcG>gcT	p.A1980A	SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCCTCGGCCGCATAGTGGC	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5938-5940)gcG>gcT		spectrin, beta, non-erythrocytic 2							90.0	99.0	96.0					11																	66457285		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457285C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5940G>T	11.37:g.66457285C>A						SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A	p.A1980A			O15020	SPTN2_HUMAN			29	6271	-			1980					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5940G>T	CCDS8150.1																																																																																				0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		53	1	1	0	4.88482e-21	1	5.65611e-21	53	1				
PNPT1	87178	broad.mit.edu	37	2	55900135	55900135	+	Silent	SNP	T	T	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:55900135T>C	ENST00000447944.2	-	9	845	c.759A>G	c.(757-759)caA>caG	p.Q253Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	253					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAATTATTTGTTGGGTATATT	0.388																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(757-759)caA>caG		polyribonucleotide nucleotidyltransferase 1							124.0	131.0	129.0					2																	55900135		2203	4300	6503	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55900135T>C	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.759A>G	2.37:g.55900135T>C							p.Q253Q	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	845	-			253					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.759A>G	CCDS1856.1																																																																																				0.388	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		39	94	0	0	0	1	0	39	94				
FAM193B	54540	broad.mit.edu	37	5	176952164	176952164	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr5:176952164C>T	ENST00000514747.1	-	6	1366	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.A66T|FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	520						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						ACACGATTTGCCTGCTTTAGA	0.577																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(196-198)Gca>Aca		family with sequence similarity 193, member B							29.0	30.0	29.0					5																	176952164		1958	4145	6103	SO:0001583	missense	54540							g.chr5:176952164C>T		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1318G>A	5.37:g.176952164C>T	ENSP00000422131:p.Ala440Thr					FAM193B_ENST00000514747.1_Missense_Mutation_p.A440T|FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T	p.A66T			Q6IPW0	Q6IPW0_HUMAN			9	3025	-			116					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.196G>A	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.305|4.305	0.055904|0.055904	0.08291|0.08291	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.44083|.	0.93;0.95;0.95|.	5.65|5.65	2.88|2.88	0.33553|0.33553	.|.	1.171480|.	0.05823|.	N|.	0.616041|.	T|T	0.16811|0.16811	0.0404|0.0404	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.001|.	B;B;B|.	0.08055|.	0.003;0.003;0.003|.	T|T	0.20075|0.20075	-1.0286|-1.0286	10|5	0.16896|.	T|.	0.51|.	2.4304|2.4304	8.761|8.761	0.34674|0.34674	0.0:0.6679:0.0:0.3321|0.0:0.6679:0.0:0.3321	.|.	440;66;407|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	T|D	440;407;66|125	ENSP00000422131:A440T;ENSP00000410098:A407T;ENSP00000332014:A66T|.	ENSP00000332014:A66T|.	A|G	-|-	1|2	0|0	FAM193B|FAM193B	176884770|176884770	0.009000|0.009000	0.17119|0.17119	0.706000|0.706000	0.30403|0.30403	0.239000|0.239000	0.25481|0.25481	0.736000|0.736000	0.26130|0.26130	1.388000|1.388000	0.46506|0.46506	0.563000|0.563000	0.77884|0.77884	GCA|GGC		0.577	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		3	34	0	0	0	1	0	3	34				
KRT35	3886	broad.mit.edu	37	17	39637289	39637289	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:39637289C>A	ENST00000393989.1	-	1	103	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	21	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCCCACTGGCCCCTCCTGGG	0.577																																						ENST00000393989.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(61-63)Gcc>Tcc		keratin 35							46.0	53.0	51.0					17																	39637289		1889	4124	6013	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637289C>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.61G>T	17.37:g.39637289C>A	ENSP00000377558:p.Ala21Ser					KRT35_ENST00000246639.2_5'UTR	p.A21S	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN			1	103	-		Breast(137;0.000286)	21			Head.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.61G>T	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	3.329	-0.137146	0.06711	.	.	ENSG00000197079	ENST00000393989	T	0.80653	-1.4	5.04	0.814	0.18756	.	.	.	.	.	T	0.65533	0.2700	L	0.34521	1.04	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.46247	-0.9205	9	0.16896	T	0.51	.	5.3146	0.15849	0.0:0.4887:0.2743:0.237	.	21	Q92764	KRT35_HUMAN	S	21	ENSP00000377558:A21S	ENSP00000377558:A21S	A	-	1	0	KRT35	36890815	0.001000	0.12720	0.003000	0.11579	0.698000	0.40448	-0.303000	0.08210	0.042000	0.15717	0.563000	0.77884	GCC		0.577	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		13	43	1	0	0.00185496	1	0.0018981	13	43				
CLCA1	1179	broad.mit.edu	37	1	86934788	86934788	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:86934788A>C	ENST00000234701.3	+	2	485	c.134A>C	c.(133-135)gAa>gCa	p.E45A	CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	45					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AATGTGCCAGAAGATGAAACA	0.383																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(133-135)gAa>gCa		chloride channel accessory 1							109.0	102.0	104.0					1																	86934788		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86934788A>C		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.134A>C	1.37:g.86934788A>C	ENSP00000234701:p.Glu45Ala					CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A	p.E45A			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	485	+		Lung NSC(277;0.239)	45					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.134A>C	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310106	0.81358	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.20463	2.07;2.07	5.96	5.96	0.96718	Chloride channel calcium-activated (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.88979	2.995	0.40899	D	0.984134	D	0.89917	1.0	D	0.97110	1.0	T	0.57653	-0.7774	10	0.87932	D	0	-33.4244	15.4272	0.75061	1.0:0.0:0.0:0.0	.	45	A8K7I4	CLCA1_HUMAN	A	45	ENSP00000234701:E45A;ENSP00000378200:E45A	ENSP00000234701:E45A	E	+	2	0	CLCA1	86707376	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.882000	0.69714	2.284000	0.76573	0.528000	0.53228	GAA		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		31	0	0	0	0	1	0	31	0				
CTBP1	1487	broad.mit.edu	37	4	1235191	1235191	+	Intron	SNP	G	G	T	rs527257655		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr4:1235191G>T	ENST00000290921.6	-	2	222				CTBP1_ENST00000382952.3_De_novo_Start_InFrame|CTBP1_ENST00000510568.1_De_novo_Start_InFrame|CTBP1_ENST00000515690.1_5'UTR	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		aggatccccaggcagaaCCGC	0.527																																						ENST00000510568.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8								C-terminal binding protein 1							125.0	114.0	117.0					4																	1235191		692	1591	2283	SO:0001627	intron_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1235191G>T	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.41-3066C>A	4.37:g.1235191G>T						CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Intron|CTBP1_ENST00000382952.3_De_novo_Start_InFrame				Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	0	520	-								Q4W5N3|Q7Z2Q5	Translation_Start_Site	SNP	ENST00000290921.6	37		CCDS3348.1																																																																																				0.527	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		23	40	1	0	1.22574e-08	1	1.34831e-08	23	40				
ATP6V1G3	127124	broad.mit.edu	37	1	198498307	198498307	+	Missense_Mutation	SNP	T	T	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:198498307T>A	ENST00000367382.1	-	2	171	c.87A>T	c.(85-87)aaA>aaT	p.K29N	ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.R45W			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	29					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ATCGCTTTCCTTTTCCTGAAA	0.254																																						ENST00000309309.7																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(133-135)Agg>Tgg		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							107.0	101.0	103.0					1																	198498307		2202	4298	6500	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198498307T>A	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.87A>T	1.37:g.198498307T>A	ENSP00000356352:p.Lys29Asn					ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K29N	p.R45W	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN			4	238	-			0					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.133A>T	CCDS1395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.17|18.17	3.563555|3.563555	0.65651|0.65651	.|.	.|.	ENSG00000151418|ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986|ENST00000309309	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.18|5.18	2.86|2.86	0.33363|0.33363	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62134|0.62134	0.2403|0.2403	.|.	.|.	.|.	0.46586|0.46586	D|D	0.999114|0.999114	D;D|D	0.76494|0.61697	0.999;0.999|0.99	D;D|P	0.74023|0.53313	0.982;0.979|0.723	T|T	0.63699|0.63699	-0.6578|-0.6578	9|7	0.87932|0.87932	D|D	0|0	-43.4432|-43.4432	7.083|7.083	0.25241|0.25241	0.0:0.2508:0.0:0.7492|0.0:0.2508:0.0:0.7492	.|.	35;29|45	Q96LB4-4;Q96LB4|Q96LB4-3	.;VATG3_HUMAN|.	N|W	29;35;29;35|45	ENSP00000356352:K29N;ENSP00000356351:K35N;ENSP00000281087:K29N;ENSP00000417171:K35N|.	ENSP00000281087:K29N|ENSP00000309574:R45W	K|R	-|-	3|1	2|2	ATP6V1G3|ATP6V1G3	196764930|196764930	0.843000|0.843000	0.29541|0.29541	0.957000|0.957000	0.39632|0.39632	0.967000|0.967000	0.64934|0.64934	0.494000|0.494000	0.22467|0.22467	0.925000|0.925000	0.37094|0.37094	0.528000|0.528000	0.53228|0.53228	AAA|AGG		0.254	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		18	28	0	0	0	1	0	18	28				
TAS2R8	50836	broad.mit.edu	37	12	10959260	10959260	+	Missense_Mutation	SNP	T	T	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:10959260T>C	ENST00000240615.2	-	1	632	c.320A>G	c.(319-321)tAt>tGt	p.Y107C		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTTCAGAAAATAGAAGACATT	0.383																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(319-321)tAt>tGt		taste receptor, type 2, member 8							81.0	81.0	81.0					12																	10959260		2203	4300	6503	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959260T>C	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.320A>G	12.37:g.10959260T>C	ENSP00000240615:p.Tyr107Cys						p.Y107C	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	632	-			107					Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.320A>G	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307867	0.23821	.	.	ENSG00000121314	ENST00000240615	T	0.37058	1.22	4.87	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000073	T	0.56848	0.2013	M	0.88906	2.99	0.24609	N	0.993733	D	0.56287	0.975	P	0.60415	0.874	T	0.53718	-0.8399	10	0.62326	D	0.03	.	6.3173	0.21199	0.0:0.1995:0.0:0.8005	.	107	Q9NYW2	TA2R8_HUMAN	C	107	ENSP00000240615:Y107C	ENSP00000240615:Y107C	Y	-	2	0	TAS2R8	10850527	0.941000	0.31946	0.164000	0.22755	0.061000	0.15899	0.959000	0.29240	0.707000	0.31934	0.460000	0.39030	TAT		0.383	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			37	35	0	0	0	1	0	37	35				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	99	0	0	0	1	0	7	99				
TERF2	7014	broad.mit.edu	37	16	69404385	69404385	+	Splice_Site	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:69404385C>T	ENST00000254942.3	-	5	857		c.e5+1		TERF2_ENST00000603068.1_Splice_Site|TERF2_ENST00000569611.2_Splice_Site|TERF2_ENST00000567296.2_Missense_Mutation_p.V281M	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2						age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCAAGGCGCACCGTGAGGAGG	0.512																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000567296.2																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(841-843)Gtg>Atg		telomeric repeat binding factor 2							84.0	70.0	75.0					16																	69404385		2198	4300	6498	SO:0001630	splice_region_variant	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69404385C>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.840+1G>A	16.37:g.69404385C>T						TERF2_ENST00000254942.3_Splice_Site|TERF2_ENST00000569611.2_Splice_Site|TERF2_ENST00000603068.1_Splice_Site	p.V281M			Q15554	TERF2_HUMAN			5	857	-		Ovarian(137;0.101)	239						Missense_Mutation	SNP	ENST00000254942.3	37	c.841G>A		.	.	.	.	.	.	.	.	.	.	C	17.63	3.438291	0.62955	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.25361	N	0.988789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.553	0.68081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TERF2	67961886	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.369000	0.59511	2.488000	0.83962	0.650000	0.86243	.		0.512	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2		Intron	3	53	0	0	0	1	0	3	53				
SVOPL	136306	broad.mit.edu	37	7	138313042	138313042	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:138313042C>A	ENST00000419765.3	-	10	963	c.930G>T	c.(928-930)ttG>ttT	p.L310F	SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Missense_Mutation_p.L190F	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	310						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACCACAGACCAAGTCCCGCT	0.562																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(568-570)ttG>ttT		SVOP-like							93.0	91.0	91.0					7																	138313042		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138313042C>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.930G>T	7.37:g.138313042C>A	ENSP00000405482:p.Leu310Phe					SVOPL_ENST00000419765.3_Missense_Mutation_p.L310F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F|SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F	p.L190F			Q8N434	SVOPL_HUMAN			7	778	-			310						Missense_Mutation	SNP	ENST00000419765.3	37	c.570G>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537681	0.45176	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.73789	-0.01;0.07;-0.01;-0.78	4.32	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.174764	0.39083	N	0.001468	T	0.72095	0.3418	N	0.24115	0.695	0.42095	D	0.991318	D;D	0.89917	0.999;1.0	D;D	0.75020	0.985;0.97	T	0.70777	-0.4780	10	0.51188	T	0.08	-14.8231	5.9222	0.19088	0.1498:0.6812:0.0:0.169	.	310;158	Q8N434;Q8N434-2	SVOPL_HUMAN;.	F	158;190;158;310	ENSP00000288513:L158F;ENSP00000412830:L190F;ENSP00000417018:L158F;ENSP00000405482:L310F	ENSP00000288513:L158F	L	-	3	2	SVOPL	137963582	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	1.100000	0.31025	1.033000	0.39918	0.563000	0.77884	TTG		0.562	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		17	23	1	0	5.01169e-05	1	5.3784e-05	17	23				
ACAP3	116983	broad.mit.edu	37	1	1233463	1233463	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:1233463G>A	ENST00000354700.5	-	13	1148	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C|ACAP3_ENST00000379037.2_5'UTR	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	316	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GAGCACAGGCGGAGGTCATCC	0.682																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(946-948)Cgc>Tgc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							37.0	38.0	37.0					1																	1233463		2186	4292	6478	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233463G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.946C>T	1.37:g.1233463G>A	ENSP00000346733:p.Arg316Cys					ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C|ACAP3_ENST00000379037.2_5'UTR	p.R316C	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			13	1148	-			316			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.946C>T	CCDS19.2	.	.	.	.	.	.	.	.	.	.	g	15.23	2.771738	0.49680	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.76186	-1.0;-1.0	3.35	3.35	0.38373	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067352	0.56097	D	0.000021	D	0.85017	0.5601	M	0.79926	2.475	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.938	D	0.86970	0.2097	10	0.87932	D	0	.	12.2385	0.54528	0.0:0.0:0.8178:0.1822	.	316;274	Q96P50;Q96P50-1	ACAP3_HUMAN;.	C	316;274	ENSP00000346733:R316C;ENSP00000321139:R274C	ENSP00000321139:R274C	R	-	1	0	ACAP3	1223326	0.994000	0.37717	0.999000	0.59377	0.863000	0.49368	2.139000	0.42149	2.168000	0.68352	0.450000	0.29827	CGC		0.682	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		3	19	0	0	0	1	0	3	19				
SLIT1	6585	broad.mit.edu	37	10	98808821	98808821	+	Silent	SNP	G	G	A	rs561139048		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:98808821G>A	ENST00000266058.4	-	14	1601	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	SLIT1_ENST00000371070.4_Silent_p.D452D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	452	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCGCAGGAAGTCTGCCAGCC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17509	0.0		0.0	False		,,,				2504	0.001					ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1354-1356)gaC>gaT		slit homolog 1 (Drosophila)							74.0	67.0	69.0					10																	98808821		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808821G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1356C>T	10.37:g.98808821G>A						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D452D	p.D452D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1601	-		Colorectal(252;0.162)	452			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1356C>T	CCDS7453.1																																																																																				0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		9	57	0	0	0	1	0	9	57				
PCDHGA8	9708	broad.mit.edu	37	5	140773281	140773281	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr5:140773281A>G	ENST00000398604.2	+	1	901	c.901A>G	c.(901-903)Ata>Gta	p.I301V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGGGGAAATATCAATAGC	0.388																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(901-903)Ata>Gta									87.0	92.0	91.0					5																	140773281		1818	4083	5901	SO:0001583	missense	9708							g.chr5:140773281A>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.901A>G	5.37:g.140773281A>G	ENSP00000381605:p.Ile301Val					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.I301V	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	901	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.901A>G	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.282012	0.23392	.	.	ENSG00000253767	ENST00000398604	T	0.64085	-0.08	5.41	2.94	0.34122	Cadherin (4);Cadherin-like (1);	0.643881	0.11092	U	0.600630	T	0.57607	0.2065	L	0.41961	1.31	0.25029	N	0.991288	B;B	0.30361	0.101;0.277	B;B	0.34590	0.186;0.117	T	0.50215	-0.8854	10	0.49607	T	0.09	.	12.1072	0.53820	0.728:0.272:0.0:0.0	.	301;301	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	301	ENSP00000381605:I301V	ENSP00000381605:I301V	I	+	1	0	PCDHGA8	140753465	0.000000	0.05858	0.989000	0.46669	0.963000	0.63663	-0.120000	0.10660	0.334000	0.23590	-0.313000	0.08912	ATA		0.388	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		3	85	0	0	0	1	0	3	85				
DIP2C	22982	broad.mit.edu	37	10	445145	445145	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:445145G>C	ENST00000280886.6	-	10	1251	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	388						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATTGTTGGGGAACACCAGTG	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1162-1164)ttC>ttG		DIP2 disco-interacting protein 2 homolog C (Drosophila)							82.0	69.0	74.0					10																	445145		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:445145G>C	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1164C>G	10.37:g.445145G>C	ENSP00000280886:p.Phe388Leu					DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L	p.F388L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	10	1251	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	388					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1164C>G	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	g	17.16	3.319654	0.60524	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.34859	1.34;1.34	5.58	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.051424	0.85682	D	0.000000	T	0.40322	0.1112	M	0.64997	1.995	0.42356	D	0.992393	B;B	0.33549	0.417;0.347	B;B	0.42163	0.292;0.378	T	0.36456	-0.9747	10	0.66056	D	0.02	-31.3934	9.9782	0.41797	0.2761:0.0:0.7239:0.0	.	281;388	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	L	388;281	ENSP00000280886:F388L;ENSP00000370907:F281L	ENSP00000280886:F388L	F	-	3	2	DIP2C	435145	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	0.642000	0.24735	0.257000	0.21650	0.558000	0.71614	TTC		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		21	36	0	0	0	1	0	21	36				
DCDC1	341019	broad.mit.edu	37	11	31086025	31086025	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr11:31086025G>C	ENST00000597505.1	-	18	2581	c.2582C>G	c.(2581-2583)tCt>tGt	p.S861C	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTGAGCAGAAGCCTTAGG	0.438																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(2581-2583)tCt>tGt		doublecortin domain containing 1							174.0	167.0	169.0					11																	31086025		1885	4119	6004	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31086025G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2582C>G	11.37:g.31086025G>C	ENSP00000472625:p.Ser861Cys					DCDC1_ENST00000437348.1_5'UTR	p.S861C			P59894	DCDC1_HUMAN			18	2581	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.2582C>G																																																																																					0.438	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		42	38	0	0	0	1	0	42	38				
ABCA13	154664	broad.mit.edu	37	7	48314395	48314395	+	Missense_Mutation	SNP	G	G	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:48314395G>T	ENST00000435803.1	+	17	5156	c.5132G>T	c.(5131-5133)gGc>gTc	p.G1711V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1711					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCTTGTTGGCTTGATGGAA	0.393																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5131-5133)gGc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							90.0	87.0	88.0					7																	48314395		1915	4122	6037	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314395G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5132G>T	7.37:g.48314395G>T	ENSP00000411096:p.Gly1711Val						p.G1711V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5156	+			1711					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5132G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.994	-0.003906	0.07773	.	.	ENSG00000179869	ENST00000435803	D	0.86497	-2.13	5.81	1.85	0.25348	.	0.790281	0.10786	N	0.634373	D	0.84741	0.5539	L	0.50333	1.59	0.09310	N	1	P	0.45396	0.857	P	0.44477	0.451	T	0.71613	-0.4540	9	.	.	.	.	10.7611	0.46266	0.3788:0.0:0.6212:0.0	.	1711	Q86UQ4	ABCAD_HUMAN	V	1711	ENSP00000411096:G1711V	.	G	+	2	0	ABCA13	48284941	0.100000	0.21855	0.011000	0.14972	0.023000	0.10783	0.241000	0.18065	0.080000	0.16959	-1.151000	0.01829	GGC		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		16	65	1	0	2.5808e-16	1	2.91167e-16	16	65				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		8	32	0	0	0	1	0	8	32				
AMER1	139285	broad.mit.edu	37	X	63412784	63412784	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chrX:63412784G>A	ENST00000330258.3	-	2	655	c.383C>T	c.(382-384)cCc>cTc	p.P128L	AMER1_ENST00000374869.3_Missense_Mutation_p.P128L|AMER1_ENST00000403336.1_Missense_Mutation_p.P128L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	128					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTGAGAGCTGGGAAATTGGCA	0.552																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(382-384)cCc>cTc		APC membrane recruitment protein 1							65.0	56.0	59.0					X																	63412784		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63412784G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.383C>T	X.37:g.63412784G>A	ENSP00000329117:p.Pro128Leu					AMER1_ENST00000374869.3_Missense_Mutation_p.P128L|AMER1_ENST00000403336.1_Missense_Mutation_p.P128L	p.P128L	NM_152424.3	NP_689637.3					2	655	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.383C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002917	0.19121	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.15487	2.42;2.42;2.42	4.59	4.59	0.56863	.	0.370184	0.28796	N	0.014120	T	0.15262	0.0368	L	0.29908	0.895	0.40711	D	0.982572	B	0.26935	0.164	B	0.28553	0.091	T	0.06679	-1.0813	10	0.44086	T	0.13	-4.0461	15.8344	0.78787	0.0:0.0:1.0:0.0	.	128	Q5JTC6	F123B_HUMAN	L	128	ENSP00000364003:P128L;ENSP00000329117:P128L;ENSP00000384722:P128L	ENSP00000329117:P128L	P	-	2	0	FAM123B	63329509	1.000000	0.71417	0.586000	0.28679	0.720000	0.41350	3.134000	0.50538	2.527000	0.85204	0.600000	0.82982	CCC		0.552	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		19	16	0	0	0	1	0	19	16				
COL12A1	1303	broad.mit.edu	37	6	75811733	75811733	+	Silent	SNP	T	T	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr6:75811733T>C	ENST00000322507.8	-	57	8760	c.8451A>G	c.(8449-8451)ccA>ccG	p.P2817P	COL12A1_ENST00000483888.2_Silent_p.P2817P|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000416123.2_Silent_p.P2741P|COL12A1_ENST00000345356.6_Silent_p.P1653P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2817	Collagen-like 2.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGAAGTCCTGGCTCTCCAG	0.458																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8449-8451)ccA>ccG		collagen, type XII, alpha 1							217.0	218.0	218.0					6																	75811733		1959	4144	6103	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75811733T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8451A>G	6.37:g.75811733T>C						COL12A1_ENST00000345356.6_Silent_p.P1653P|COL12A1_ENST00000483888.2_Silent_p.P2817P|COL12A1_ENST00000416123.2_Silent_p.P2741P	p.P2817P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			57	8760	-			2817			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.8451A>G	CCDS43482.1																																																																																				0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	150	0	0	0	1	0	4	150				
DCAF17	80067	broad.mit.edu	37	2	172306405	172306405	+	Missense_Mutation	SNP	A	A	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:172306405A>T	ENST00000375255.3	+	5	802	c.475A>T	c.(475-477)Act>Tct	p.T159S	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	159					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GAGCTGGGACACTCCTCAAGA	0.338																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(475-477)Act>Tct		DDB1 and CUL4 associated factor 17							47.0	48.0	48.0					2																	172306405		1847	4101	5948	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172306405A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.475A>T	2.37:g.172306405A>T	ENSP00000364404:p.Thr159Ser					DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S	p.T159S	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			5	802	+			159					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.475A>T	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034928	0.54896	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.43294	0.95;0.96	5.43	5.43	0.79202	.	0.123535	0.56097	D	0.000029	T	0.45856	0.1363	L	0.35414	1.06	0.30543	N	0.766237	D;D	0.71674	0.998;0.982	D;P	0.63033	0.91;0.831	T	0.41556	-0.9502	10	0.20046	T	0.44	-14.5626	9.958	0.41680	0.923:0.0:0.077:0.0	.	159;159	F5H7W1;Q5H9S7	.;DCA17_HUMAN	S	159	ENSP00000364404:T159S;ENSP00000442238:T159S	ENSP00000364404:T159S	T	+	1	0	DCAF17	172014651	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.607000	0.54102	2.199000	0.70637	0.529000	0.55759	ACT		0.338	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		3	43	0	0	0	1	0	3	43				
ZNF394	84124	broad.mit.edu	37	7	99091213	99091213	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:99091213C>T	ENST00000337673.6	-	3	1828	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	ZNF394_ENST00000394177.3_5'Flank|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	542					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTTTGGTGTCGGATAAGGTG	0.463																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(1624-1626)cGa>cAa		zinc finger protein 394							162.0	159.0	160.0					7																	99091213		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091213C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1625G>A	7.37:g.99091213C>T	ENSP00000337363:p.Arg542Gln					ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	p.R542Q	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			3	1828	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		542					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1625G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832288	0.32421	.	.	ENSG00000160908	ENST00000337673	T	0.09630	2.96	3.29	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.222920	0.23241	N	0.050348	T	0.03263	0.0095	N	0.05050	-0.12	0.58432	D	0.999997	B	0.28850	0.225	B	0.21917	0.037	T	0.35475	-0.9787	10	0.06891	T	0.86	.	4.213	0.10521	0.2257:0.6527:0.0:0.1216	.	542	Q53GI3	ZN394_HUMAN	Q	542	ENSP00000337363:R542Q	ENSP00000337363:R542Q	R	-	2	0	ZNF394	98929149	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.019000	0.12546	0.964000	0.38108	0.655000	0.94253	CGA		0.463	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		75	81	0	0	0	1	0	75	81				
WDR11	55717	broad.mit.edu	37	10	122619631	122619631	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:122619631G>C	ENST00000263461.6	+	4	609	c.363G>C	c.(361-363)tgG>tgC	p.W121C		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	275					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGTTCAGTGGTTGTGGAATC	0.428																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(361-363)tgG>tgC		WD repeat domain 11							169.0	144.0	152.0					10																	122619631		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619631G>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.363G>C	10.37:g.122619631G>C	ENSP00000263461:p.Trp121Cys						p.W121C	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	609	+			121					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.363G>C	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820999	0.50633	.	.	ENSG00000120008	ENST00000263461	T	0.34859	1.34	5.74	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64356	-0.6427	10	0.87932	D	0	-5.8406	14.7366	0.69419	0.0693:0.0:0.9307:0.0	.	121	Q9BZH6	WDR11_HUMAN	C	121	ENSP00000263461:W121C	ENSP00000263461:W121C	W	+	3	0	WDR11	122609621	1.000000	0.71417	0.990000	0.47175	0.345000	0.29048	9.686000	0.98664	1.456000	0.47831	-0.229000	0.12294	TGG		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			32	87	0	0	0	1	0	32	87				
CLEC4M	10332	broad.mit.edu	37	19	7831056	7831056	+	Silent	SNP	A	A	G			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr19:7831056A>G	ENST00000327325.5	+	4	865	c.747A>G	c.(745-747)caA>caG	p.Q249Q	CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000248228.4_Silent_p.Q227Q|CLEC4M_ENST00000596363.1_Silent_p.Q221Q|CLEC4M_ENST00000595496.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	249	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCAGCAGCAAATCTATCAAG	0.512																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(745-747)caA>caG		C-type lectin domain family 4, member M							146.0	149.0	148.0					19																	7831056		2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831056A>G	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.747A>G	19.37:g.7831056A>G						CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Silent_p.Q221Q|CLEC4M_ENST00000248228.4_Silent_p.Q227Q	p.Q249Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			4	865	+			249			7 X approximate tandem repeats.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.747A>G	CCDS12187.1																																																																																				0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		62	46	0	0	0	1	0	62	46				
USP36	57602	broad.mit.edu	37	17	76831368	76831368	+	Missense_Mutation	SNP	G	G	A	rs151065333	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:76831368G>A	ENST00000542802.3	-	4	912	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	USP36_ENST00000589424.1_Missense_Mutation_p.R157C|USP36_ENST00000312010.6_Missense_Mutation_p.R157C|USP36_ENST00000590546.2_Missense_Mutation_p.R157C			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	157	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACAGCTGCGAGCATGCTCC	0.552													G|||	5	0.000998403	0.003	0.0014	5008	,	,		14001	0.0		0.0	False		,,,				2504	0.0					ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(469-471)Cgc>Tgc		ubiquitin specific peptidase 36		G	CYS/ARG	16,4390	23.3+/-48.9	0,16,2187	141.0	93.0	109.0		469	2.1	0.0	17	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USP36	NM_025090.3	180	0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307	probably-damaging	157/1124	76831368	17,12989	2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831368G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.469C>T	17.37:g.76831368G>A	ENSP00000441214:p.Arg157Cys					USP36_ENST00000542802.2_Missense_Mutation_p.R157C|USP36_ENST00000589424.1_Missense_Mutation_p.R157C|USP36_ENST00000590546.2_Missense_Mutation_p.R157C	p.R157C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	793	-			157					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.469C>T	CCDS32755.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.9	4.214665	0.79352	0.003631	1.16E-4	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.32753	1.44;1.44	5.31	2.1	0.27182	.	0.222920	0.46442	D	0.000291	T	0.45438	0.1342	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.64877	0.93;0.921	T	0.32161	-0.9917	10	0.87932	D	0	-12.0043	8.2951	0.31980	0.0749:0.0:0.6484:0.2767	.	157;157	Q8IXW9;Q9P275-2	.;.	C	157	ENSP00000310590:R157C;ENSP00000441214:R157C	ENSP00000310590:R157C	R	-	1	0	USP36	74342963	1.000000	0.71417	0.001000	0.08648	0.479000	0.33129	4.360000	0.59455	0.190000	0.20209	-0.291000	0.09656	CGC		0.552	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		4	36	0	0	0	1	0	4	36				
CCDC64	92558	broad.mit.edu	37	12	120510313	120510313	+	Splice_Site	SNP	A	A	G			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:120510313A>G	ENST00000397558.2	+	6	1089		c.e6-1		CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Splice_Site	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64						Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGTGGAACAGCTGAGACTG	0.502																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.e6-1		coiled-coil domain containing 64							69.0	68.0	68.0					12																	120510313		2000	4172	6172	SO:0001630	splice_region_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120510313A>G	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1090-1A>G	12.37:g.120510313A>G						CCDC64_ENST00000257583.4_Splice_Site|CCDC64_ENST00000446727.2_Intron		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			6	1089	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A8MUC8|B4DWL0|B5MDJ0|O95000	Splice_Site	SNP	ENST00000397558.2	37		CCDS41845.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159803	0.78226	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000548673;ENST00000257583	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6514	0.77099	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC64	118994696	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.540000	0.90641	2.115000	0.64714	0.533000	0.62120	.		0.502	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	Intron	25	58	0	0	0	1	0	25	58				
UNC13D	201294	broad.mit.edu	37	17	73825012	73825012	+	Missense_Mutation	SNP	C	C	A	rs200462004	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:73825012C>A	ENST00000207549.4	-	31	3386	c.3007G>T	c.(3007-3009)Gtg>Ttg	p.V1003L	UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1003	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTCCAGCACGGTGAGCAGG	0.706									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3007-3009)Gtg>Ttg		unc-13 homolog D (C. elegans)							26.0	28.0	27.0					17																	73825012		2199	4297	6496	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73825012C>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.3007G>T	17.37:g.73825012C>A	ENSP00000207549:p.Val1003Leu					UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L	p.V1003L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	3386	-			1003			C2 2.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.3007G>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893041	0.97074	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	D;D	0.86366	-2.11;-2.11	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	D	0.92811	0.7714	M	0.73217	2.22	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	D	0.92372	0.5906	10	0.56958	D	0.05	-12.6532	20.0887	0.97806	0.0:1.0:0.0:0.0	.	1003	Q70J99	UN13D_HUMAN	L	1003	ENSP00000207549:V1003L;ENSP00000388093:V1003L	ENSP00000207549:V1003L	V	-	1	0	UNC13D	71336607	1.000000	0.71417	0.975000	0.42487	0.911000	0.54048	7.389000	0.79806	2.825000	0.97269	0.655000	0.94253	GTG		0.706	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		11	14	1	0	0.000978159	1	0.00102474	11	14				
CSDE1	7812	broad.mit.edu	37	1	115268982	115268985	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:115268982_115268985delTGTT	ENST00000358528.4	-	14	1913_1916	c.1487_1490delAACA	c.(1486-1491)aaacagfs	p.KQ496fs	CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.KQ366fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000438362.2_Frame_Shift_Del_p.KQ542fs|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	496	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGGCCTCTGTTTGTCACTAAT	0.397																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1624-1629)agfs		cold shock domain containing E1, RNA-binding																																				SO:0001589	frameshift_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115268982_115268985delTGTT		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1487_1490delAACA	1.37:g.115268982_115268985delTGTT	ENSP00000351329:p.Lys496fs					CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.KQ366fs	p.KQ542fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2003_2006	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	496			CSD 7.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Del	DEL	ENST00000358528.4	37	c.1625_1628delAACA	CCDS30812.1																																																																																				0.397	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		30	9						30	9	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		6	9						6	9	---	---	---	---
LOC642426	642426	broad.mit.edu	37	14	19408019	19408019	+	lincRNA	DEL	A	A	-			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr14:19408019delA	ENST00000548050.1	-	0	279					NR_046104.1																						CTGTGGAGCCAAAAAAAAAAT	0.393																																						ENST00000548050.1																			0																																																			642426							g.chr14:19408019delA																													14.37:g.19408019delA								NR_046104.1						0	279	-									RNA	DEL	ENST00000548050.1	37																																																																																						0.393	RP11-536C10.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000408404.1			3	6						3	6	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29989145	29989146	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:29989145_29989146delCT	ENST00000308893.4	+	2	1095_1096	c.52_53delCT	c.(52-54)ctcfs	p.L18fs	TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L18fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	18					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGGCTGAGCTCTTCTTCAAG	0.609																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(52-54)cfs		TAO kinase 2																																				SO:0001589	frameshift_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989145_29989146delCT	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.52_53delCT	16.37:g.29989147_29989148delCT	ENSP00000310094:p.Leu18fs					TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L18fs	p.L18fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1095_1096	+			18					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Frame_Shift_Del	DEL	ENST00000308893.4	37	c.52_53delCT	CCDS10663.1																																																																																				0.609	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		44	38						44	38	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			2	4						2	4	---	---	---	---
