#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
PIWIL3	440822	broad.mit.edu	37	22	25147435	25147435	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:25147435A>G	ENST00000332271.5	-	9	1424	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.D227D|PIWIL3_ENST00000533313.1_Silent_p.D227D	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	336	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCAATCAATATCATCTACTC	0.338																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1006-1008)gaT>gaC		piwi-like RNA-mediated gene silencing 3							273.0	266.0	268.0					22																	25147435		2202	4300	6502	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25147435A>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1008T>C	22.37:g.25147435A>G						PIWIL3_ENST00000533313.1_Silent_p.D227D|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.D227D	p.D336D	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			9	1424	-			336			PAZ.			Silent	SNP	ENST00000332271.5	37	c.1008T>C	CCDS33623.1																																																																																				0.338	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		43	123	0	0	0	1	0	43	123				
TLK2	11011	broad.mit.edu	37	17	60685506	60685506	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:60685506A>G	ENST00000326270.9	+	22	2410	c.2142A>G	c.(2140-2142)gcA>gcG	p.A714A	TLK2_ENST00000343388.7_Silent_p.A660A|TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000582809.1_Silent_p.A543A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CACCTGAAGCAAAGGTAAGTT	0.418																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1627-1629)gcA>gcG		tousled-like kinase 2							66.0	65.0	65.0					17																	60685506		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685506A>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2142A>G	17.37:g.60685506A>G						TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000326270.9_Silent_p.A714A|TLK2_ENST00000343388.7_Silent_p.A660A	p.A543A			Q86UE8	TLK2_HUMAN			22	2332	+			714			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1629A>G																																																																																					0.418	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		6	33	0	0	0	1	0	6	33				
C2CD5	9847	broad.mit.edu	37	12	22637658	22637658	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr12:22637658A>G	ENST00000333957.4	-	13	1778	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	508					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACCTTTTCCAATAACTGTTGC	0.383																																						ENST00000333957.4																			0											c.(1522-1524)aTt>aCt		C2 calcium-dependent domain containing 5							124.0	119.0	120.0					12																	22637658		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22637658A>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1523T>C	12.37:g.22637658A>G	ENSP00000334229:p.Ile508Thr					C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T|C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T	p.I508T	NM_014802.1	NP_055617.1					13	1778	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1523T>C	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	A	4.640	0.118906	0.08881	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.24	5.24	0.73138	.	0.308416	0.30830	N	0.008789	T	0.20618	0.0496	N	0.04880	-0.145	0.32797	N	0.500423	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.0;0.002;0.0;0.002;0.0	T	0.13495	-1.0507	10	0.02654	T	1	-8.5347	15.1432	0.72626	1.0:0.0:0.0:0.0	.	510;508;323;510;499;508	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	T	508;508;510;499;508;521;323	ENSP00000334229:I508T;ENSP00000388756:I508T;ENSP00000439392:I510T;ENSP00000379345:I499T;ENSP00000441951:I508T;ENSP00000443204:I521T;ENSP00000445288:I323T	ENSP00000334229:I508T	I	-	2	0	KIAA0528	22528925	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.596000	0.67570	1.965000	0.57142	0.533000	0.62120	ATT		0.383	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		4	109	0	0	0	1	0	4	109				
ASAP3	55616	broad.mit.edu	37	1	23782631	23782631	+	Silent	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:23782631G>A	ENST00000336689.3	-	2	230	c.186C>T	c.(184-186)atC>atT	p.I62I	ASAP3_ENST00000437606.2_Silent_p.I62I|ASAP3_ENST00000449467.2_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	62					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGGAGCTATGGATTGCCCGCA	0.587																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(184-186)atC>atT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							103.0	101.0	102.0					1																	23782631		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23782631G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.186C>T	1.37:g.23782631G>A						ASAP3_ENST00000437606.2_Silent_p.I62I	p.I62I	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			2	230	-			62					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.186C>T	CCDS235.1																																																																																				0.587	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		9	28	0	0	0	1	0	9	28				
OR2D2	120776	broad.mit.edu	37	11	6913226	6913226	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:6913226C>T	ENST00000299459.2	-	1	604	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTACTGCCTCGGTAGGGTAG	0.493																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(505-507)cGa>cAa		olfactory receptor, family 2, subfamily D, member 2							105.0	83.0	91.0					11																	6913226		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913226C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.506G>A	11.37:g.6913226C>T	ENSP00000299459:p.Arg169Gln						p.R169Q	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	604	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	169					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.506G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	5.909	0.351873	0.11182	.	.	ENSG00000166368	ENST00000299459	T	0.00069	8.77	5.12	-4.18	0.03846	GPCR, rhodopsin-like superfamily (1);	0.991378	0.08182	N	0.985236	T	0.00144	0.0004	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.10291	-1.0636	10	0.46703	T	0.11	-14.7948	12.7222	0.57147	0.0:0.4019:0.0:0.5981	.	169	Q9H210	OR2D2_HUMAN	Q	169	ENSP00000299459:R169Q	ENSP00000299459:R169Q	R	-	2	0	OR2D2	6869802	0.001000	0.12720	0.237000	0.24090	0.521000	0.34408	0.159000	0.16442	-0.659000	0.05359	-0.912000	0.02778	CGA		0.493	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		9	48	0	0	0	1	0	9	48				
XPO4	64328	broad.mit.edu	37	13	21373356	21373356	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:21373356A>G	ENST00000255305.6	-	16	2341	c.2270T>C	c.(2269-2271)tTa>tCa	p.L757S	XPO4_ENST00000400602.2_Missense_Mutation_p.L757S			Q9C0E2	XPO4_HUMAN	exportin 4	757					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAAACCTCCTAAGACTAGAGC	0.438																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(2269-2271)tTa>tCa		exportin 4							270.0	262.0	264.0					13																	21373356		1897	4128	6025	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21373356A>G	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2270T>C	13.37:g.21373356A>G	ENSP00000255305:p.Leu757Ser					XPO4_ENST00000255305.6_Missense_Mutation_p.L757S	p.L757S	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	16	2305	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	757					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.2270T>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.811804	0.70797	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.57107	0.42;0.42	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.43152	1.355	0.80722	D	1	B	0.33266	0.404	B	0.29524	0.103	T	0.39014	-0.9634	10	0.36615	T	0.2	-13.0961	16.4781	0.84144	1.0:0.0:0.0:0.0	.	757	Q9C0E2	XPO4_HUMAN	S	757;627;757	ENSP00000383444:L757S;ENSP00000255305:L757S	ENSP00000255305:L757S	L	-	2	0	XPO4	20271356	1.000000	0.71417	0.796000	0.32109	0.996000	0.88848	8.855000	0.92236	2.288000	0.76882	0.528000	0.53228	TTA		0.438	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		14	364	0	0	0	1	0	14	364				
TG	7038	broad.mit.edu	37	8	134030207	134030207	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:134030207G>C	ENST00000220616.4	+	38	6787	c.6747G>C	c.(6745-6747)ttG>ttC	p.L2249F	TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.L619F|TG_ENST00000377869.1_Missense_Mutation_p.L2192F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2249					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAGCCCTTGAACTGGACAG	0.552																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6745-6747)ttG>ttC		thyroglobulin							37.0	35.0	36.0					8																	134030207		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134030207G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6747G>C	8.37:g.134030207G>C	ENSP00000220616:p.Leu2249Phe					TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000377869.1_Missense_Mutation_p.L2192F|TG_ENST00000542445.1_Missense_Mutation_p.L619F	p.L2249F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	38	6787	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2249					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6747G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.02|10.02	1.237447|1.237447	0.22711|0.22711	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.60672	.|0.17;0.17;0.17;0.17	5.38|5.38	3.43|3.43	0.39272|0.39272	.|Carboxylesterase, type B (1);	.|0.934757	.|0.08978	.|N	.|0.866271	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.41356|0.41356	1.27|1.27	0.35419|0.35419	D|D	0.793108|0.793108	.|B;B;B	.|0.13594	.|0.004;0.002;0.008	.|B;B;B	.|0.18561	.|0.01;0.005;0.022	T|T	0.48175|0.48175	-0.9058|-0.9058	5|10	.|0.26408	.|T	.|0.33	.|.	7.8316|7.8316	0.29347|0.29347	0.0:0.1675:0.6354:0.1971|0.0:0.1675:0.6354:0.1971	.|.	.|382;619;2249	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Q|F	705|2192;1055;2249;619;382	.|ENSP00000367100:L2192F;ENSP00000220616:L2249F;ENSP00000441693:L619F;ENSP00000430430:L382F	.|ENSP00000220616:L2249F	E|L	+|+	1|3	0|2	TG|TG	134099389|134099389	0.745000|0.745000	0.28261|0.28261	0.996000|0.996000	0.52242|0.52242	0.975000|0.975000	0.68041|0.68041	0.525000|0.525000	0.22956|0.22956	1.478000|1.478000	0.48253|0.48253	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		14	30	0	0	0	1	0	14	30				
MAGEA10	4109	broad.mit.edu	37	X	151303840	151303840	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chrX:151303840G>T	ENST00000370323.4	-	4	569	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	85						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCACTCTGGGGAGGATTT	0.542																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(253-255)Cag>Aag		melanoma antigen family A, 10							160.0	160.0	160.0					X																	151303840		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303840G>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.253C>A	X.37:g.151303840G>T	ENSP00000359347:p.Gln85Lys					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K	p.Q85K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	569	-	Acute lymphoblastic leukemia(192;6.56e-05)		85						Missense_Mutation	SNP	ENST00000370323.4	37	c.253C>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	8.183	0.794356	0.16327	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	2.12	2.12	0.27331	Melanoma associated antigen, MAGE, N-terminal (1);	1.964930	0.02547	N	0.095199	T	0.23532	0.0569	M	0.73598	2.24	0.09310	N	1	P	0.50272	0.933	P	0.54706	0.759	T	0.08554	-1.0716	10	0.56958	D	0.05	.	7.0466	0.25048	0.0:0.0:1.0:0.0	.	85	P43363	MAGAA_HUMAN	K	85	ENSP00000359347:Q85K;ENSP00000244096:Q85K;ENSP00000406161:Q85K;ENSP00000391977:Q85K	ENSP00000244096:Q85K	Q	-	1	0	MAGEA10	151054496	0.017000	0.18338	0.002000	0.10522	0.381000	0.30169	1.637000	0.37155	1.348000	0.45733	0.292000	0.19580	CAG		0.542	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		5	101	1	0	1	1	1	5	101				
GOLGA6A	342096	broad.mit.edu	37	15	74368249	74368249	+	Silent	SNP	G	G	A	rs113579971		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:74368249G>A	ENST00000290438.3	-	8	682	c.642C>T	c.(640-642)caC>caT	p.H214H		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	214						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CCTGTGTCACGTGTGCGTTCA	0.582																																						ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(640-642)caC>caT		golgin A6 family, member A							41.0	50.0	47.0					15																	74368249		2137	4217	6354	SO:0001819	synonymous_variant	342096							g.chr15:74368249G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.642C>T	15.37:g.74368249G>A							p.H214H	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			8	682	-			214					A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	c.642C>T	CCDS32290.1																																																																																				0.582	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		4	134	0	0	0	1	0	4	134				
PEAK1	79834	broad.mit.edu	37	15	77425652	77425652	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:77425652G>A	ENST00000560626.2	-	6	4247	c.3772C>T	c.(3772-3774)Cgt>Tgt	p.R1258C	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1258C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1258					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GAGGGCCCACGCCGGCTGGAG	0.532																																						ENST00000560626.2																			0											c.(3772-3774)Cgt>Tgt		pseudopodium-enriched atypical kinase 1							78.0	81.0	80.0					15																	77425652		1881	4096	5977	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425652G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3772C>T	15.37:g.77425652G>A	ENSP00000452796:p.Arg1258Cys					PEAK1_ENST00000312493.4_Missense_Mutation_p.R1258C	p.R1258C			Q9H792	PEAK1_HUMAN			6	4247	-			1258					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3772C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316785	0.40996	.	.	ENSG00000173517	ENST00000312493	T	0.70516	-0.49	5.61	5.61	0.85477	.	0.066872	0.64402	D	0.000019	T	0.68284	0.2984	L	0.27053	0.805	0.51482	D	0.999926	D	0.76494	0.999	P	0.50490	0.642	T	0.69907	-0.5018	10	0.46703	T	0.11	-3.2536	17.8124	0.88620	0.0:0.0:1.0:0.0	.	1258	Q9H792	PEAK1_HUMAN	C	1258	ENSP00000309230:R1258C	ENSP00000309230:R1258C	R	-	1	0	AC087465.1	75212707	1.000000	0.71417	0.998000	0.56505	0.093000	0.18481	2.860000	0.48372	2.651000	0.90000	0.655000	0.94253	CGT		0.532	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			12	91	0	0	0	1	0	12	91				
MIR429	554210	broad.mit.edu	37	1	1104442	1104442	+	lincRNA	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:1104442G>T	ENST00000606993.1	+	0	0				MIR200A_ENST00000384875.1_RNA|MIR429_ENST00000362106.1_RNA|MIR200B_ENST00000384997.1_RNA																							GTCTAATACTGTCTGGTAAAA	0.627																																						ENST00000362106.1																			0																				45.0	53.0	50.0					1																	1104442		1568	3582	5150			0							g.chr1:1104442G>T																													1.37:g.1104442G>T								NR_029957.1						0	58	+									RNA	SNP	ENST00000606993.1	37																																																																																						0.627	RP11-465B22.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470776.1			3	36	1	0	1	1	1	3	36				
ENTPD6	955	broad.mit.edu	37	20	25188018	25188018	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr20:25188018A>C	ENST00000376652.4	+	3	524	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T120P			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	121					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.T121P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCCAGTTCACCCGGCCCCC	0.642																																						ENST00000360031.2																			1	Substitution - Missense(1)	p.T121P(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(358-360)Acc>Ccc		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							37.0	35.0	36.0					20																	25188018		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25188018A>C	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.361A>C	20.37:g.25188018A>C	ENSP00000365840:p.Thr121Pro					ENTPD6_ENST00000433259.2_Missense_Mutation_p.T121P|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T121P|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T104P	p.T120P	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			3	540	+			121					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.358A>C	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	A	4.012	-0.000436	0.07819	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.07	-1.27	0.09347	.	0.678662	0.15029	N	0.284579	T	0.07413	0.0187	N	0.16233	0.39	0.09310	N	1	P;B;P;P;B;B;P;B	0.42203	0.507;0.324;0.614;0.773;0.244;0.408;0.545;0.403	B;B;B;B;B;B;B;B	0.43623	0.266;0.266;0.425;0.425;0.162;0.319;0.364;0.364	T	0.27331	-1.0077	10	0.30854	T	0.27	-3.5017	3.7147	0.08434	0.3745:0.0:0.4151:0.2104	.	103;121;121;121;104;120;120;121	B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;.;ENTP6_HUMAN	P	104;120;17;121;103;103;121;120;104;121	ENSP00000347084:T104P;ENSP00000353131:T120P;ENSP00000365840:T121P;ENSP00000408098:T103P;ENSP00000395064:T103P;ENSP00000401895:T121P;ENSP00000398844:T120P;ENSP00000390511:T104P;ENSP00000390646:T121P	ENSP00000347084:T104P	T	+	1	0	ENTPD6	25136018	0.047000	0.20315	0.033000	0.17914	0.026000	0.11368	0.065000	0.14466	-0.066000	0.12998	-0.381000	0.06696	ACC		0.642	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			9	33	0	0	0	1	0	9	33				
C1QC	714	broad.mit.edu	37	1	22973820	22973820	+	Silent	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:22973820G>A	ENST00000374639.3	+	3	400	c.282G>A	c.(280-282)ggG>ggA	p.G94G	C1QC_ENST00000374637.1_Silent_p.G94G|C1QC_ENST00000374640.4_Silent_p.G94G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	94	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACCCCCTGGGATGCCAGGGG	0.627																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(280-282)ggG>ggA		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						35.0	41.0	39.0					1																	22973820		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973820G>A	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.282G>A	1.37:g.22973820G>A						C1QC_ENST00000374637.1_Silent_p.G94G|C1QC_ENST00000374640.4_Silent_p.G94G	p.G94G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	400	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	94			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.282G>A	CCDS227.1																																																																																				0.627	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		11	40	0	0	0	1	0	11	40				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	31	0	0	0	1	0	4	31				
PTPRD	5789	broad.mit.edu	37	9	8636728	8636728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:8636728C>A	ENST00000381196.4	-	10	724	c.181G>T	c.(181-183)Gga>Tga	p.G61*	PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G61*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	61	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTTTCTTTCCTTTTTTGTTC	0.453										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(181-183)Gga>Tga		protein tyrosine phosphatase, receptor type, D							130.0	122.0	125.0					9																	8636728		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636728C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.181G>T	9.37:g.8636728C>A	ENSP00000370593:p.Gly61*	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G61*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G61*	p.G61*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	724	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	61			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.181G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000602	0.97189	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5464	0.95299	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	.	G	-	1	0	PTPRD	8626728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.615000	0.88500	0.557000	0.71058	GGA		0.453	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			12	109	1	0	1.08611e-07	1	1.22378e-07	12	109				
ASXL2	55252	broad.mit.edu	37	2	25966130	25966130	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:25966130T>G	ENST00000435504.4	-	13	3369	c.3076A>C	c.(3076-3078)Agt>Cgt	p.S1026R	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S998R|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1026					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGCTTACTTTGCAAGGTT	0.512																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(3076-3078)Agt>Cgt		additional sex combs like 2 (Drosophila)							71.0	72.0	71.0					2																	25966130		1948	4148	6096	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966130T>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3076A>C	2.37:g.25966130T>G	ENSP00000391447:p.Ser1026Arg					ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S998R	p.S1026R			Q76L83	ASXL2_HUMAN			13	3369	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1026					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3076A>C		.	.	.	.	.	.	.	.	.	.	T	14.80	2.643672	0.47258	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.35236	1.32;1.32	6.07	3.74	0.42951	.	0.270973	0.48767	D	0.000169	T	0.42517	0.1206	M	0.67953	2.075	0.80722	D	1	D	0.56521	0.976	P	0.49140	0.601	T	0.42699	-0.9436	10	0.87932	D	0	-2.2711	9.0878	0.36592	0.0:0.1482:0.0:0.8518	.	1026	Q76L83	ASXL2_HUMAN	R	1026;998	ENSP00000391447:S1026R;ENSP00000337250:S998R	ENSP00000337250:S998R	S	-	1	0	ASXL2	25819634	0.002000	0.14202	0.788000	0.31933	0.784000	0.44337	1.102000	0.31050	1.122000	0.41944	0.533000	0.62120	AGT		0.512	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		5	29	0	0	0	1	0	5	29				
PKD1L1	168507	broad.mit.edu	37	7	47944821	47944821	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:47944821A>C	ENST00000289672.2	-	11	1674	c.1624T>G	c.(1624-1626)Ttt>Gtt	p.F542V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	542	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCTCTCCAAAATACCACTCA	0.438																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1624-1626)Ttt>Gtt		polycystic kidney disease 1 like 1							143.0	130.0	135.0					7																	47944821		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47944821A>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1624T>G	7.37:g.47944821A>C	ENSP00000289672:p.Phe542Val						p.F542V	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			11	1674	-			542			PKD 1.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1624T>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221313	0.58560	.	.	ENSG00000158683	ENST00000289672	D	0.84146	-1.81	5.07	5.07	0.68467	PKD/Chitinase domain (1);	0.159290	0.29775	N	0.011234	D	0.86339	0.5909	L	0.29908	0.895	0.35739	D	0.818552	D	0.76494	0.999	D	0.63488	0.915	D	0.89692	0.3898	10	0.52906	T	0.07	-15.7949	13.1136	0.59288	1.0:0.0:0.0:0.0	.	542	Q8TDX9	PK1L1_HUMAN	V	542	ENSP00000289672:F542V	ENSP00000289672:F542V	F	-	1	0	PKD1L1	47911346	1.000000	0.71417	0.983000	0.44433	0.429000	0.31625	5.265000	0.65519	2.056000	0.61249	0.529000	0.55759	TTT		0.438	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		20	89	0	0	0	1	0	20	89				
UBAP2	55833	broad.mit.edu	37	9	33986782	33986782	+	Missense_Mutation	SNP	G	G	A	rs199847092		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:33986782G>A	ENST00000379238.1	-	6	613	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	UBAP2_ENST00000360802.1_Missense_Mutation_p.R166C|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.R166C|UBAP2_ENST00000418786.2_Missense_Mutation_p.R166C					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CGCTTGCCACGATCTGAAGGT	0.453																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(496-498)Cgt>Tgt		ubiquitin associated protein 2							288.0	291.0	290.0					9																	33986782		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33986782G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.496C>T	9.37:g.33986782G>A	ENSP00000368540:p.Arg166Cys					UBAP2_ENST00000418786.2_Missense_Mutation_p.R166C|UBAP2_ENST00000449054.1_Missense_Mutation_p.R166C|UBAP2_ENST00000360802.1_Missense_Mutation_p.R166C|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron	p.R166C			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	6	613	-			166						Missense_Mutation	SNP	ENST00000379238.1	37	c.496C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395582	0.83011	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.59	4.7	0.59300	.	0.052888	0.85682	D	0.000000	T	0.58352	0.2116	M	0.83483	2.645	0.80722	D	1	B;D;B;D;D	0.89917	0.391;1.0;0.131;1.0;1.0	B;D;B;D;D	0.76575	0.067;0.988;0.023;0.973;0.98	T	0.64909	-0.6296	10	0.62326	D	0.03	-1.2398	14.4495	0.67374	0.0708:0.0:0.9292:0.0	.	166;91;128;91;166	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	C	166;166;166;128;106;166;166;42	ENSP00000368540:R166C;ENSP00000416932:R166C;ENSP00000354039:R166C;ENSP00000404436:R166C;ENSP00000414800:R166C	ENSP00000354039:R166C	R	-	1	0	UBAP2	33976782	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	5.717000	0.68446	1.366000	0.46076	0.561000	0.74099	CGT		0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		11	240	0	0	0	1	0	11	240				
MUC17	140453	broad.mit.edu	37	7	100681373	100681373	+	Missense_Mutation	SNP	C	C	T	rs144624588		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:100681373C>T	ENST00000306151.4	+	3	6740	c.6676C>T	c.(6676-6678)Cct>Tct	p.P2226S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2226	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2226T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAAGTATGCCTGTCAGCAC	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2226T(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6676-6678)Cct>Tct		mucin 17, cell surface associated		C	SER/PRO	0,4406		0,0,2203	356.0	350.0	352.0		6676	-0.1	0.0	7	dbSNP_134	352	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2226/4494	100681373	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681373C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6676C>T	7.37:g.100681373C>T	ENSP00000302716:p.Pro2226Ser						p.P2226S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6740	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2226			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6676C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.740195	0.00675	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50215	-0.8854	8	0.06625	T	0.88	.	.	.	.	.	2226	Q685J3	MUC17_HUMAN	S	2226	ENSP00000302716:P2226S	ENSP00000302716:P2226S	P	+	1	0	MUC17	100468093	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.188000	0.03064	-1.381000	0.02112	-1.368000	0.01194	CCT		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	636	0	0	0	1	0	5	636				
CORO1A	11151	broad.mit.edu	37	16	30198525	30198525	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr16:30198525G>A	ENST00000219150.5	+	5	922	c.617G>A	c.(616-618)cGc>cAc	p.R206H	CORO1A_ENST00000570045.1_Missense_Mutation_p.R206H|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.R206H|RP11-455F5.5_ENST00000566144.1_RNA|RP11-455F5.5_ENST00000567153.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	206					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ATCGAGCCCCGCAAAGGCACT	0.577																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(616-618)cGc>cAc		coronin, actin binding protein, 1A							66.0	64.0	64.0					16																	30198525		2197	4300	6497	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30198525G>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.617G>A	16.37:g.30198525G>A	ENSP00000219150:p.Arg206His					CORO1A_ENST00000570045.1_Missense_Mutation_p.R206H|CORO1A_ENST00000565497.1_Missense_Mutation_p.R206H	p.R206H	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN			5	922	+			206					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.617G>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	16.58	3.163889	0.57476	.	.	ENSG00000102879	ENST00000219150	T	0.01629	4.72	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.66351	0.849;0.943	T	0.00130	-1.2015	10	0.54805	T	0.06	1.0273	10.5985	0.45352	0.0892:0.0:0.9108:0.0	.	262;206	Q59G88;P31146	.;COR1A_HUMAN	H	206	ENSP00000219150:R206H	ENSP00000219150:R206H	R	+	2	0	CORO1A	30106026	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	9.202000	0.95026	2.576000	0.86940	0.561000	0.74099	CGC		0.577	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		3	43	0	0	0	1	0	3	43				
COBL	23242	broad.mit.edu	37	7	51096535	51096535	+	Missense_Mutation	SNP	G	G	C	rs374580746		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:51096535G>C	ENST00000265136.7	-	10	2423	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	COBL_ENST00000395542.2_Missense_Mutation_p.S835C	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	753					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACAGACGAAGACAGGGAAAT	0.547																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2503-2505)tCt>tGt		cordon-bleu WH2 repeat protein		G	CYS/SER	0,4406		0,0,2203	73.0	65.0	68.0		2258	1.3	0.0	7		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBL	NM_015198.3	112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	753/1262	51096535	1,13005	2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096535G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2258C>G	7.37:g.51096535G>C	ENSP00000265136:p.Ser753Cys					COBL_ENST00000265136.7_Missense_Mutation_p.S753C	p.S835C			O75128	COBL_HUMAN			12	2688	-	Glioma(55;0.08)		753					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2504C>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801933	0.50315	0.0	1.16E-4	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12984	2.65;2.64;2.63;2.63	5.61	1.31	0.21738	.	1.854190	0.02911	N	0.136718	T	0.24160	0.0585	L	0.34521	1.04	0.09310	N	1	D;D;D;D;D	0.76494	0.992;0.992;0.993;0.992;0.999	P;P;P;P;D	0.63192	0.719;0.719;0.628;0.719;0.912	T	0.17258	-1.0375	10	0.56958	D	0.05	.	6.343	0.21332	0.0745:0.325:0.4881:0.1123	.	753;810;753;835;295	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	C	753;645;638;835	ENSP00000265136:S753C;ENSP00000401204:S645C;ENSP00000413498:S638C;ENSP00000378912:S835C	ENSP00000265136:S753C	S	-	2	0	COBL	51064029	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.507000	0.22675	0.663000	0.31027	0.655000	0.94253	TCT		0.547	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		18	44	0	0	0	1	0	18	44				
SLITRK5	26050	broad.mit.edu	37	13	88329858	88329858	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:88329858C>T	ENST00000325089.6	+	2	2434	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	739					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCGCGCTGCCCAAGGTGAA	0.667																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2215-2217)Ccc>Tcc		SLIT and NTRK-like family, member 5							42.0	46.0	45.0					13																	88329858		2200	4291	6491	SO:0001583	missense	26050					integral to membrane		g.chr13:88329858C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2215C>T	13.37:g.88329858C>T	ENSP00000366283:p.Pro739Ser					SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S	p.P739S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2434	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		739					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2215C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815848	0.50527	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59364	0.27;0.67	4.36	4.36	0.52297	.	0.064902	0.64402	D	0.000008	T	0.43055	0.1230	L	0.34521	1.04	0.50467	D	0.999872	B;B	0.31837	0.226;0.342	B;B	0.22386	0.039;0.039	T	0.35574	-0.9783	9	.	.	.	-8.7403	14.375	0.66867	0.0:1.0:0.0:0.0	.	498;739	B4DSH5;O94991	.;SLIK5_HUMAN	S	739;498	ENSP00000366283:P739S;ENSP00000442244:P498S	.	P	+	1	0	SLITRK5	87127859	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.391000	0.79828	1.942000	0.56320	0.455000	0.32223	CCC		0.667	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			19	98	0	0	0	1	0	19	98				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	21	0	0	0	1	0	5	21				
IL6ST	3572	broad.mit.edu	37	5	55237352	55237352	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr5:55237352G>A	ENST00000381298.2	-	17	2627	c.2315C>T	c.(2314-2316)cCg>cTg	p.P772L	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.P772L|IL6ST_ENST00000381294.3_Missense_Mutation_p.P711L|IL6ST_ENST00000502326.3_Missense_Mutation_p.P772L|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	772					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGACTGACGGAACTTGGTG	0.463			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2314-2316)cCg>cTg		interleukin 6 signal transducer (gp130, oncostatin M receptor)							131.0	132.0	132.0					5																	55237352		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237352G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2315C>T	5.37:g.55237352G>A	ENSP00000370698:p.Pro772Leu					IL6ST_ENST00000336909.5_Missense_Mutation_p.P772L|IL6ST_ENST00000502326.3_Missense_Mutation_p.P772L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.P711L|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381287.4_3'UTR	p.P772L	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2627	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	772					A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.2315C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408161	0.83340	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.51071	1.15;1.15;0.72	5.4	5.4	0.78164	.	0.385553	0.22750	N	0.056091	T	0.58666	0.2138	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63171	-0.6697	10	0.87932	D	0	.	19.5543	0.95335	0.0:0.0:1.0:0.0	.	772;711;772	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	L	772;772;711	ENSP00000370698:P772L;ENSP00000338799:P772L;ENSP00000370694:P711L	ENSP00000338799:P772L	P	-	2	0	IL6ST	55273109	1.000000	0.71417	0.631000	0.29282	0.574000	0.36063	8.701000	0.91331	2.687000	0.91594	0.557000	0.71058	CCG		0.463	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		7	149	0	0	0	1	0	7	149				
OR5A1	219982	broad.mit.edu	37	11	59210893	59210893	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:59210893G>T	ENST00000302030.2	+	1	277	c.252G>T	c.(250-252)atG>atT	p.M84I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCCCAATATGCTCACTGACT	0.478																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(250-252)atG>atT		olfactory receptor, family 5, subfamily A, member 1							129.0	125.0	126.0					11																	59210893		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210893G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.252G>T	11.37:g.59210893G>T	ENSP00000303096:p.Met84Ile						p.M84I	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	277	+			84					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.252G>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174186	0.38413	.	.	ENSG00000172320	ENST00000302030	T	0.05513	3.43	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.093817	0.46442	D	0.000281	T	0.08980	0.0222	M	0.66560	2.04	0.33338	D	0.569498	B	0.24043	0.096	B	0.21546	0.035	T	0.03684	-1.1013	10	0.62326	D	0.03	-36.8818	7.7667	0.28984	0.0807:0.0:0.7564:0.1629	.	84	Q8NGJ0	OR5A1_HUMAN	I	84	ENSP00000303096:M84I	ENSP00000303096:M84I	M	+	3	0	OR5A1	58967469	0.711000	0.27906	1.000000	0.80357	0.964000	0.63967	0.105000	0.15333	2.718000	0.92993	0.650000	0.86243	ATG		0.478	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		5	104	1	0	0.184627	1	0.189361	5	104				
SSTR3	6753	broad.mit.edu	37	22	37602985	37602985	+	Silent	SNP	G	G	A	rs150814143	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:37602985G>A	ENST00000328544.3	-	2	1391	c.858C>T	c.(856-858)ccC>ccT	p.P286P	SSTR3_ENST00000402501.1_Silent_p.P286P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	286					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CAGGCTCCTCGGGCAGTGGGC	0.617													G|||	6	0.00119808	0.0	0.0	5008	,	,		15865	0.006		0.0	False		,,,				2504	0.0					ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(856-858)ccC>ccT		somatostatin receptor 3							103.0	73.0	84.0					22																	37602985		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602985G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.858C>T	22.37:g.37602985G>A						SSTR3_ENST00000402501.1_Silent_p.P286P	p.P286P	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1391	-			286					A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.858C>T	CCDS13944.1																																																																																				0.617	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			14	74	0	0	0	1	0	14	74				
CACNA1E	777	broad.mit.edu	37	1	181725150	181725150	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:181725150C>T	ENST00000367573.2	+	29	4048	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1331C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1350					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAATGGAAGCGCCATGAATT	0.493																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3991-3993)Cgc>Tgc		calcium channel, voltage-dependent, R type, alpha 1E subunit							90.0	91.0	90.0					1																	181725150		1994	4178	6172	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181725150C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4048C>T	1.37:g.181725150C>T	ENSP00000356545:p.Arg1350Cys					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1350C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C	p.R1331C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			28	4156	+			1350					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3991C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634116	0.87660	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	L	0.50333	1.59	0.80722	D	1	P;D;D	0.89917	0.915;1.0;1.0	B;D;D	0.74674	0.254;0.978;0.984	D	0.98640	1.0675	10	0.87932	D	0	.	14.4272	0.67225	0.1475:0.8525:0.0:0.0	.	1331;1350;1350	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1350;1331;1301;1282;957;1331;1350	ENSP00000356542:R1350C;ENSP00000434814:R1331C;ENSP00000350183:R1301C;ENSP00000351101:R1282C;ENSP00000356539:R957C;ENSP00000353222:R1331C;ENSP00000356545:R1350C	ENSP00000350183:R1301C	R	+	1	0	CACNA1E	179991773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.085000	0.64468	2.788000	0.95919	0.650000	0.86243	CGC		0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	38	0	0	0	1	0	4	38				
RRBP1	6238	broad.mit.edu	37	20	17639483	17639483	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr20:17639483C>T	ENST00000377813.1	-	3	1973	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.G557D			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	557	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TACCTTTGTGCCCTGATTAGC	0.527																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(1669-1671)gGc>gAc		ribosome binding protein 1							175.0	168.0	170.0					20																	17639483		876	1991	2867	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639483C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1670G>A	20.37:g.17639483C>T	ENSP00000367044:p.Gly557Asp					RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.G557D|RRBP1_ENST00000360807.4_Intron	p.G557D			Q9P2E9	RRBP1_HUMAN			3	1973	-			557			41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.1670G>A		.	.	.	.	.	.	.	.	.	.	C	10.37	1.330459	0.24167	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.63744	-0.06;-0.06	4.34	2.16	0.27623	.	0.000000	0.36591	N	0.002517	T	0.44201	0.1282	.	.	.	0.21105	N	0.999787	.	.	.	.	.	.	T	0.19484	-1.0304	7	0.20519	T	0.43	-10.9192	5.5878	0.17283	0.0:0.6891:0.2003:0.1107	.	.	.	.	D	557	ENSP00000367044:G557D;ENSP00000246043:G557D	ENSP00000246043:G557D	G	-	2	0	RRBP1	17587483	0.000000	0.05858	0.653000	0.29593	0.360000	0.29518	0.188000	0.17018	1.113000	0.41760	0.462000	0.41574	GGC		0.527	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		4	111	0	0	0	1	0	4	111				
PGLYRP2	114770	broad.mit.edu	37	19	15582860	15582860	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:15582860C>T	ENST00000340880.4	-	3	1664	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.G395D	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	395					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTTCGGGCGGCCCCGATAAGG	0.662																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1183-1185)gGc>gAc		peptidoglycan recognition protein 2							29.0	28.0	28.0					19																	15582860		2202	4299	6501	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15582860C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1184G>A	19.37:g.15582860C>T	ENSP00000345968:p.Gly395Asp					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G395D	p.G395D			Q96PD5	PGRP2_HUMAN			3	1313	-			395					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1184G>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084755	0.36758	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.17691	2.26;2.26	4.43	3.38	0.38709	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (3);	0.179643	0.47852	D	0.000215	T	0.24353	0.0590	L	0.59436	1.845	0.36321	D	0.858225	P;P	0.42871	0.567;0.792	P;B	0.47915	0.561;0.411	T	0.18777	-1.0326	10	0.51188	T	0.08	.	10.7557	0.46234	0.0:0.9033:0.0:0.0967	.	395;395	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	D	395	ENSP00000345968:G395D;ENSP00000292609:G395D	ENSP00000292609:G395D	G	-	2	0	PGLYRP2	15443860	0.998000	0.40836	0.232000	0.24009	0.014000	0.08584	5.125000	0.64715	0.983000	0.38602	0.561000	0.74099	GGC		0.662	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		6	38	0	0	0	1	0	6	38				
RYR3	6263	broad.mit.edu	37	15	34129867	34129867	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:34129867G>T	ENST00000389232.4	+	89	11756	c.11686G>T	c.(11686-11688)Gtt>Ttt	p.V3896F	RYR3_ENST00000415757.3_Missense_Mutation_p.V3891F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3896					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGCAGATGGTTGACACACT	0.383																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11686-11688)Gtt>Ttt		ryanodine receptor 3							68.0	68.0	68.0					15																	34129867		1899	4106	6005	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34129867G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11686G>T	15.37:g.34129867G>T	ENSP00000373884:p.Val3896Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.V3891F	p.V3896F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11756	+		all_lung(180;7.18e-09)	3896					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11686G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885382	0.72410	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	T	0.67345	-0.26	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.81777	0.4894	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.968;0.999	T	0.83011	-0.0172	10	0.66056	D	0.02	.	18.8474	0.92212	0.0:0.0:1.0:0.0	.	3891;3896	Q15413-2;Q15413	.;RYR3_HUMAN	F	3896;3892	ENSP00000373884:V3896F	ENSP00000354735:V3892F	V	+	1	0	RYR3	31917159	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.530000	0.98051	2.702000	0.92279	0.551000	0.68910	GTT		0.383	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	10	1	0	0.00116845	1	0.00128049	6	10				
DCBLD1	285761	broad.mit.edu	37	6	117853502	117853502	+	Missense_Mutation	SNP	G	G	A	rs139193542	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:117853502G>A	ENST00000338728.5	+	6	785	c.665G>A	c.(664-666)cGc>cAc	p.R222H	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.R222H|DCBLD1_ENST00000368503.4_Missense_Mutation_p.R222H			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	222	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GTGCTTCAGCGCAAAGGGATC	0.433													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20071	0.0		0.0	False		,,,				2504	0.0					ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(664-666)cGc>cAc		discoidin, CUB and LCCL domain containing 1		G	HIS/ARG	14,4392	21.2+/-45.6	0,14,2189	231.0	191.0	204.0		665	-5.2	0.1	6	dbSNP_134	204	0,8600		0,0,4300	yes	missense	DCBLD1	NM_173674.1	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	222/540	117853502	14,12992	2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117853502G>A	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.665G>A	6.37:g.117853502G>A	ENSP00000342422:p.Arg222His					DCBLD1_ENST00000368503.4_Missense_Mutation_p.R222H|DCBLD1_ENST00000296955.8_Missense_Mutation_p.R222H|GOPC_ENST00000467125.1_Intron	p.R222H			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	6	785	+		all_cancers(87;0.171)	222			LCCL.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.665G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.71	1.428179	0.25726	0.003177	0.0	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	D;D;D	0.89196	-2.48;-2.48;-2.48	5.53	-5.23	0.02798	LCCL (4);	1.434440	0.03890	N	0.278484	T	0.52533	0.1740	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.53606	-0.8415	10	0.13470	T	0.59	0.3062	1.5818	0.02636	0.4557:0.1775:0.1273:0.2395	.	222;222	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	H	222	ENSP00000296955:R222H;ENSP00000357489:R222H;ENSP00000342422:R222H	ENSP00000296955:R222H	R	+	2	0	DCBLD1	117960195	0.011000	0.17503	0.130000	0.21974	0.984000	0.73092	-0.109000	0.10840	-0.768000	0.04626	-0.444000	0.05651	CGC		0.433	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		3	64	0	0	0	1	0	3	64				
PTPRH	5794	broad.mit.edu	37	19	55711746	55711746	+	Silent	SNP	G	G	A	rs139891947		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:55711746G>A	ENST00000376350.3	-	7	1300	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	PTPRH_ENST00000263434.5_Silent_p.D248D|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	426	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCCACCACCGTCTCCAGTGT	0.522																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1276-1278)gaC>gaT		protein tyrosine phosphatase, receptor type, H		G	,	1,4405	2.1+/-5.4	0,1,2202	180.0	150.0	160.0		744,1278	-7.6	0.0	19	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRH	NM_001161440.1,NM_002842.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	248/938,426/1116	55711746	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711746G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1278C>T	19.37:g.55711746G>A						PTPRH_ENST00000263434.5_Silent_p.D248D|PTPRH_ENST00000588559.1_5'UTR	p.D426D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1300	-		Renal(1328;0.245)	426			Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1278C>T	CCDS33110.1																																																																																				0.522	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			22	103	0	0	0	1	0	22	103				
IL17RA	23765	broad.mit.edu	37	22	17586829	17586829	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr22:17586829A>G	ENST00000319363.6	+	11	1163	c.1030A>G	c.(1030-1032)Acc>Gcc	p.T344A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	344					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGTCTGCATGACCTGGAGGCT	0.572																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1030-1032)Acc>Gcc		interleukin 17 receptor A							85.0	68.0	74.0					22																	17586829		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586829A>G	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1030A>G	22.37:g.17586829A>G	ENSP00000320936:p.Thr344Ala						p.T344A	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	11	1163	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	344					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1030A>G	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	A	7.196	0.592502	0.13875	.	.	ENSG00000177663	ENST00000319363	T	0.06142	3.34	5.21	1.21	0.21127	.	0.282842	0.30676	N	0.009113	T	0.04048	0.0113	L	0.28115	0.83	0.28939	N	0.891091	B	0.14012	0.009	B	0.14578	0.011	T	0.42464	-0.9450	10	0.15499	T	0.54	-16.846	8.0203	0.30406	0.7373:0.0:0.2627:0.0	.	344	Q96F46	I17RA_HUMAN	A	344	ENSP00000320936:T344A	ENSP00000320936:T344A	T	+	1	0	IL17RA	15966829	0.997000	0.39634	0.986000	0.45419	0.203000	0.24098	0.894000	0.28350	0.098000	0.17522	0.459000	0.35465	ACC		0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		3	48	0	0	0	1	0	3	48				
THSD4	79875	broad.mit.edu	37	15	72037466	72037466	+	Missense_Mutation	SNP	G	G	A	rs374464107		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr15:72037466G>A	ENST00000355327.3	+	12	2062	c.1928G>A	c.(1927-1929)cGc>cAc	p.R643H	THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R283H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	643					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTATTTTCCGCTGTGTGCAC	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1927-1929)cGc>cAc		thrombospondin, type I, domain containing 4		G	HIS/ARG	0,4006		0,0,2003	297.0	300.0	299.0		1928	2.9	1.0	15		299	1,8345		0,1,4172	no	missense	THSD4	NM_024817.2	29	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	benign	643/1019	72037466	1,12351	2003	4173	6176	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72037466G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1928G>A	15.37:g.72037466G>A	ENSP00000347484:p.Arg643His					THSD4_ENST00000357769.4_Missense_Mutation_p.R283H|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000567838.1_3'UTR	p.R643H			Q6ZMP0	THSD4_HUMAN			12	2062	+			643					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1928G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	7.907	0.735646	0.15574	0.0	1.2E-4	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.61040	0.14;0.14;0.14	4.96	2.87	0.33458	.	.	.	.	.	T	0.34077	0.0885	N	0.14661	0.345	0.37248	D	0.906434	B;B	0.19445	0.017;0.036	B;B	0.14023	0.004;0.01	T	0.17806	-1.0357	9	0.14252	T	0.57	.	8.2784	0.31885	0.2135:0.0:0.7865:0.0	.	283;643	B4DR13;Q6ZMP0	.;THSD4_HUMAN	H	643;643;283	ENSP00000347484:R643H;ENSP00000261862:R643H;ENSP00000350413:R283H	ENSP00000261862:R643H	R	+	2	0	THSD4	69824520	0.648000	0.27313	0.997000	0.53966	0.996000	0.88848	0.393000	0.20817	1.249000	0.43950	0.491000	0.48974	CGC		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		92	321	0	0	0	1	0	92	321				
TARBP1	6894	broad.mit.edu	37	1	234536985	234536985	+	Missense_Mutation	SNP	C	C	T	rs201389692		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:234536985C>T	ENST00000040877.1	-	25	4012	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1338					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTCCTGAATGCGTTGCCAATT	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		5065	0.0		0.0	False		,,,				2504	0.0					ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4012-4014)cGc>cAc		TAR (HIV-1) RNA binding protein 1		C	HIS/ARG	0,4406		0,0,2203	113.0	105.0	108.0		4013	5.1	1.0	1		108	1,8597		0,1,4298	yes	missense	TARBP1	NM_005646.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1338/1622	234536985	1,13003	2203	4299	6502	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234536985C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4013G>A	1.37:g.234536985C>T	ENSP00000040877:p.Arg1338His					TARBP1_ENST00000483404.1_5'UTR	p.R1338H	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		25	4012	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1338					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4013G>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678175	0.68042	0.0	1.16E-4	ENSG00000059588	ENST00000040877	T	0.09073	3.02	5.99	5.08	0.68730	.	0.054165	0.64402	D	0.000002	T	0.29556	0.0737	M	0.77616	2.38	0.52501	D	0.99995	D	0.89917	1.0	D	0.70716	0.97	T	0.03325	-1.1048	10	0.51188	T	0.08	-15.3563	15.4448	0.75220	0.0:0.9333:0.0:0.0667	.	1338	Q13395	TARB1_HUMAN	H	1338	ENSP00000040877:R1338H	ENSP00000040877:R1338H	R	-	2	0	TARBP1	232603608	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	3.309000	0.51903	1.548000	0.49413	-0.137000	0.14449	CGC		0.358	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		6	23	0	0	0	1	0	6	23				
FOXR2	139628	broad.mit.edu	37	X	55650284	55650284	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chrX:55650284C>T	ENST00000339140.3	+	1	452	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	47					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAATCCTTGCCAAATACAGA	0.527																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(139-141)gCc>gTc		forkhead box R2							91.0	83.0	86.0					X																	55650284		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650284C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.140C>T	X.37:g.55650284C>T	ENSP00000427329:p.Ala47Val						p.A47V	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	452	+			47						Missense_Mutation	SNP	ENST00000339140.3	37	c.140C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776688	0.16120	.	.	ENSG00000189299	ENST00000339140	D	0.94330	-3.4	4.0	-2.26	0.06867	.	1.026640	0.07741	N	0.946890	D	0.89774	0.6812	L	0.58810	1.83	0.09310	N	1	P	0.44986	0.847	B	0.40864	0.342	T	0.80710	-0.1261	10	0.72032	D	0.01	.	5.1521	0.15015	0.0:0.3178:0.1582:0.524	.	47	Q6PJQ5	FOXR2_HUMAN	V	47	ENSP00000427329:A47V	ENSP00000427329:A47V	A	+	2	0	FOXR2	55667009	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	-0.455000	0.06762	-0.935000	0.03728	-0.945000	0.02674	GCC		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		3	34	0	0	0	1	0	3	34				
MCF2L	23263	broad.mit.edu	37	13	113738343	113738343	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:113738343G>T	ENST00000375608.3	+	19	2171	c.2113G>T	c.(2113-2115)Gac>Tac	p.D705Y	MCF2L_ENST00000397030.1_Missense_Mutation_p.D708Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	705	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAACTACACTGACTGCCCAGA	0.433																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2122-2124)Gac>Tac		MCF.2 cell line derived transforming sequence-like							246.0	210.0	222.0					13																	113738343		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113738343G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2113G>T	13.37:g.113738343G>T	ENSP00000364758:p.Asp705Tyr					MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375608.3_Missense_Mutation_p.D705Y	p.D708Y			O15068	MCF2L_HUMAN			18	2159	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	705			DH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2122G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.989238|2.989238	0.53934|0.53934	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.64991|.	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Dbl homology (DH) domain (5);|.	0.048535|.	0.85682|.	D|.	0.000000|.	T|.	0.72053|.	0.3413|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.995;0.999;0.999|.	D;D;D;D;D;D|.	0.70716|.	0.95;0.95;0.95;0.946;0.968;0.97|.	T|.	0.70382|.	-0.4887|.	10|.	0.54805|.	T|.	0.06|.	.|.	18.4026|18.4026	0.90522|0.90522	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	673;675;732;637;673;705|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	Y|L	705;705;732;708;675;679;679;681;673;673;516|335	ENSP00000364758:D705Y;ENSP00000401422:D705Y;ENSP00000364754:D732Y;ENSP00000380225:D708Y;ENSP00000440374:D675Y;ENSP00000397285:D679Y;ENSP00000364751:D679Y;ENSP00000407722:D681Y;ENSP00000405639:D673Y;ENSP00000364747:D673Y|.	ENSP00000364747:D673Y|.	D|X	+|+	1|2	0|2	MCF2L|MCF2L	112786344|112786344	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.064000|0.064000	0.16182|0.16182	9.606000|9.606000	0.98325|0.98325	2.338000|2.338000	0.79540|0.79540	0.561000|0.561000	0.74099|0.74099	GAC|TGA		0.433	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			4	78	1	0	0.150653	1	0.158583	4	78				
GSTA3	2940	broad.mit.edu	37	6	52761716	52761716	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:52761716G>C	ENST00000211122.3	-	7	622	c.557C>G	c.(556-558)aCc>aGc	p.T186S	GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	186	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GCTGATTCTGGTTTTCAGGGC	0.517																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(556-558)aCc>aGc		glutathione S-transferase alpha 3	Glutathione(DB00143)						82.0	82.0	82.0					6																	52761716		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52761716G>C	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.557C>G	6.37:g.52761716G>C	ENSP00000211122:p.Thr186Ser					GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S	p.T186S	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			7	622	-	Lung NSC(77;0.0912)		186			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.557C>G	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000174156	ENST00000370968;ENST00000211122	T;T	0.03524	3.9;3.9	3.27	1.31	0.21738	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.655219	0.15150	N	0.277787	T	0.01189	0.0039	L	0.39467	1.215	0.20196	N	0.999923	B	0.09022	0.002	B	0.14578	0.011	T	0.44697	-0.9311	10	0.22706	T	0.39	.	12.0474	0.53487	0.0:0.5304:0.4696:0.0	.	186	Q16772	GSTA3_HUMAN	S	136;186	ENSP00000360007:T136S;ENSP00000211122:T186S	ENSP00000211122:T186S	T	-	2	0	GSTA3	52869675	0.008000	0.16893	0.917000	0.36280	0.863000	0.49368	-0.021000	0.12504	0.154000	0.19237	-0.176000	0.13171	ACC		0.517	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			13	104	0	0	0	1	0	13	104				
CYLC2	1539	broad.mit.edu	37	9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	rs188765977		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		15253	0.0		0.001	False		,,,				2504	0.0					ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(220-222)cCa>cAa		cylicin, basic protein of sperm head cytoskeleton 2							85.0	81.0	83.0					9																	105767017		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767017C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.221C>A	9.37:g.105767017C>A	ENSP00000420256:p.Pro74Gln					CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			4	291	+		all_hematologic(171;0.125)	74			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.221C>A	CCDS35085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.71	3.197866	0.58126	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23552	1.9;1.9	4.53	4.53	0.55603	.	0.000000	0.42964	D	0.000636	T	0.48466	0.1501	M	0.71581	2.175	0.34192	D	0.672217	D	0.89917	1.0	D	0.80764	0.994	T	0.62784	-0.6781	10	0.66056	D	0.02	-21.7515	12.9751	0.58532	0.0:1.0:0.0:0.0	.	74	Q14093	CYLC2_HUMAN	Q	74	ENSP00000420256:P74Q;ENSP00000417674:P74Q	ENSP00000420256:P74Q	P	+	2	0	CYLC2	104806838	0.767000	0.28508	0.953000	0.39169	0.664000	0.39144	3.221000	0.51215	2.511000	0.84671	0.591000	0.81541	CCA		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		17	50	1	0	1.67942e-08	1	1.91933e-08	17	50				
KIAA1109	84162	broad.mit.edu	37	4	123237982	123237982	+	Silent	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:123237982A>G	ENST00000264501.4	+	62	11008	c.10635A>G	c.(10633-10635)gaA>gaG	p.E3545E	KIAA1109_ENST00000388738.3_Silent_p.E3545E|KIAA1109_ENST00000455637.1_Silent_p.E3545E			Q2LD37	K1109_HUMAN	KIAA1109	3545					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATCAGAGAACTGAATGAAC	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(10633-10635)gaA>gaG		KIAA1109							106.0	106.0	106.0					4																	123237982		1852	4092	5944	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123237982A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10635A>G	4.37:g.123237982A>G						KIAA1109_ENST00000455637.1_Silent_p.E3545E|KIAA1109_ENST00000388738.3_Silent_p.E3545E	p.E3545E			Q2LD37	K1109_HUMAN			62	11008	+			3545					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.10635A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	7.224	0.598014	0.13939	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.61	0.45	0.16624	.	.	.	.	.	T	0.58595	0.2133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52373	-0.8584	4	.	.	.	.	11.106	0.48203	0.6142:0.0:0.3858:0.0	.	.	.	.	A	1503	.	.	T	+	1	0	KIAA1109	123457432	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	0.912000	0.28597	-0.120000	0.11809	-0.264000	0.10439	ACT		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	48	0	0	0	1	0	4	48				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	125	0	0	0	1	0	4	125				
CNOT6L	246175	broad.mit.edu	37	4	78641641	78641641	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:78641641G>C	ENST00000504123.1	-	12	1742	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	538	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGAGGGTGGAGTTCAAGTTGT	0.527																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1612-1614)Ctc>Gtc		CCR4-NOT transcription complex, subunit 6-like							96.0	97.0	96.0					4																	78641641		1925	4112	6037	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641641G>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1612C>G	4.37:g.78641641G>C	ENSP00000424896:p.Leu538Val					CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V	p.L538V			Q96LI5	CNO6L_HUMAN			12	1742	-			538					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1612C>G		.	.	.	.	.	.	.	.	.	.	G	7.891	0.732341	0.15507	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	D;D;D	0.95885	-3.84;-3.84;-3.84	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (1);	1.258460	0.05679	N	0.590056	D	0.93344	0.7878	L	0.35414	1.06	0.80722	D	1	B	0.29270	0.24	B	0.31442	0.13	T	0.76647	-0.2882	10	0.06494	T	0.89	-2.3301	20.3921	0.98947	0.0:0.0:1.0:0.0	.	538	Q96LI5	CNO6L_HUMAN	V	538;538;545	ENSP00000424896:L538V;ENSP00000264903:L538V;ENSP00000425571:L545V	ENSP00000264903:L538V	L	-	1	0	CNOT6L	78860665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.771000	0.62318	2.822000	0.97130	0.650000	0.86243	CTC		0.527	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			7	157	0	0	0	1	0	7	157				
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																						ENST00000220669.5																			3	Substitution - Nonsense(3)	p.R130*(3)	lung(1)|ovary(1)|prostate(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(388-390)Cga>Tga		zinc finger, AN1-type domain 1							187.0	158.0	168.0					8																	82626245		2203	4299	6502	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82626245G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*					ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*	p.R130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN			6	406	-			130					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.388C>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		4	71	0	0	0	1	0	4	71				
ASPM	259266	broad.mit.edu	37	1	197111887	197111887	+	Nonsense_Mutation	SNP	T	T	A	rs587783219		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:197111887T>A	ENST00000367409.4	-	3	1751	c.1495A>T	c.(1495-1497)Aaa>Taa	p.K499*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	499					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCTTCCTTTTAGTAACAGTG	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1495-1497)Aaa>Taa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							140.0	145.0	143.0					1																	197111887		2203	4300	6503	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111887T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1495A>T	1.37:g.197111887T>A	ENSP00000356379:p.Lys499*					ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499*	p.K499*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1751	-			499					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.1495A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	40	8.361903	0.98777	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7939	0.78394	0.0:0.0:0.0:1.0	.	.	.	.	X	499	.	ENSP00000294732:K499X	K	-	1	0	ASPM	195378510	1.000000	0.71417	0.788000	0.31933	0.787000	0.44495	3.850000	0.55918	2.187000	0.69744	0.523000	0.50628	AAA		0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		5	163	0	0	0	1	0	5	163				
F13A1	2162	broad.mit.edu	37	6	6174830	6174830	+	Missense_Mutation	SNP	G	G	A	rs143711562	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:6174830G>A	ENST00000264870.3	-	12	1995	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	577					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T577M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCTCCAGCGTCACGTCGAA	0.512													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18423	0.0		0.004	False		,,,				2504	0.0					ENST00000264870.3																			1	Substitution - Missense(1)	p.T577M(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1729-1731)aCg>aTg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	251.0	223.0	233.0		1730	-4.9	0.0	6	dbSNP_134	233	25,8575	17.3+/-56.4	0,25,4275	yes	missense	F13A1	NM_000129.3	81	0,26,6477	AA,AG,GG		0.2907,0.0227,0.1999	benign	577/733	6174830	26,12980	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6174830G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1730C>T	6.37:g.6174830G>A	ENSP00000264870:p.Thr577Met						p.T577M	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			12	1995	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	577					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1730C>T	CCDS4496.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	5.273	0.235816	0.10023	2.27E-4	0.002907	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.70749	-0.51	5.77	-4.92	0.03075	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.949218	0.08841	N	0.885816	T	0.43144	0.1234	M	0.76002	2.32	0.09310	N	1	B;B	0.32918	0.321;0.39	B;B	0.26517	0.07;0.043	T	0.46205	-0.9208	10	0.56958	D	0.05	.	6.1051	0.20069	0.3301:0.0:0.3672:0.3027	.	514;577	F5H080;P00488	.;F13A_HUMAN	M	577;514	ENSP00000264870:T577M	ENSP00000264870:T577M	T	-	2	0	F13A1	6119829	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.440000	0.06888	-0.759000	0.04684	-0.963000	0.02626	ACG		0.512	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		34	111	0	0	0	1	0	34	111				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	63	0	0	0	1	0	4	63				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	36	0	0	0	1	0	4	36				
EDF1	8721	broad.mit.edu	37	9	139760662	139760662	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr9:139760662G>T	ENST00000224073.1	-	1	76	c.49C>A	c.(49-51)Cct>Act	p.P17T	EDF1_ENST00000371648.4_Missense_Mutation_p.P17T|EDF1_ENST00000371649.1_Missense_Mutation_p.P17T	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	17					endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCGGCCGTAGGGCCCTTCTTG	0.731																																						ENST00000371648.4																			0				lung(1)	1						c.(49-51)Cct>Act		endothelial differentiation-related factor 1							34.0	35.0	35.0					9																	139760662		2200	4298	6498	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139760662G>T	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.49C>A	9.37:g.139760662G>T	ENSP00000224073:p.Pro17Thr					EDF1_ENST00000371649.1_Missense_Mutation_p.P17T|EDF1_ENST00000224073.1_Missense_Mutation_p.P17T	p.P17T	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	1	56	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	17					Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.49C>A	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.997666	0.74818	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	4.59	3.62	0.41486	Multiprotein bridging factor 1, N-terminal (1);	0.076045	0.52532	U	0.000061	T	0.73984	0.3657	M	0.82433	2.59	0.80722	D	1	P;B	0.41624	0.757;0.17	P;P	0.51193	0.662;0.474	T	0.79274	-0.1871	9	0.62326	D	0.03	-3.2653	14.0143	0.64515	0.0:0.1524:0.8476:0.0	.	17;17	O60869-2;O60869	.;EDF1_HUMAN	T	17	.	ENSP00000224073:P17T	P	-	1	0	EDF1	138880483	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	5.793000	0.69060	2.125000	0.65367	0.651000	0.88453	CCT		0.731	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			5	22	1	0	0.184627	1	0.189361	5	22				
SKA3	221150	broad.mit.edu	37	13	21729267	21729267	+	3'UTR	SNP	G	G	A	rs11147977	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:21729267G>A	ENST00000314759.5	-	0	1385				SKA3_ENST00000400018.3_Missense_Mutation_p.T381I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363																																						ENST00000400018.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1141-1143)aCa>aTa		spindle and kinetochore associated complex subunit 3							141.0	146.0	144.0					13																	21729267		2202	4300	6502	SO:0001624	3_prime_UTR_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729267G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.*22C>T	13.37:g.21729267G>A						SKA3_ENST00000314759.5_3'UTR	p.T381I	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN			8	1211	-			0					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1142C>T	CCDS31946.1	234	0.10714285714285714	10	0.02032520325203252	48	0.13259668508287292	96	0.16783216783216784	80	0.10554089709762533	A	1.991	-0.431860	0.04669	.	.	ENSG00000165480	ENST00000400018	T	0.22945	1.93	4.07	-0.905	0.10527	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	8	0.41790	T	0.15	.	4.7384	0.13001	0.4657:0.1694:0.365:0.0	rs11147977;rs52815571;rs61114986;rs11147977	381	Q8IX90-3	.	I	381	ENSP00000382896:T381I	ENSP00000382896:T381I	T	-	2	0	SKA3	20627267	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.200000	0.17257	-0.416000	0.07473	-0.893000	0.02921	ACA		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		4	36	0	0	0	1	0	4	36				
SNAP91	9892	broad.mit.edu	37	6	84290295	84290295	+	Silent	SNP	A	A	G	rs564010316		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:84290295A>G	ENST00000439399.2	-	24	2489	c.2173T>C	c.(2173-2175)Ttg>Ctg	p.L725L	SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000428679.2_Silent_p.L725L|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000520302.1_Silent_p.L695L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000520213.1_Silent_p.L418L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	725					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTTGGCATCAAAAGATCACCT	0.433																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2173-2175)Ttg>Ctg		synaptosomal-associated protein, 91kDa							78.0	79.0	79.0					6																	84290295		1943	4139	6082	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84290295A>G	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2173T>C	6.37:g.84290295A>G						SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000439399.2_Silent_p.L725L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000520213.1_Silent_p.L418L|SNAP91_ENST00000520302.1_Silent_p.L695L	p.L725L			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	24	2766	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	725					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.2173T>C	CCDS47455.1																																																																																				0.433	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			8	46	0	0	0	1	0	8	46				
UNC13D	201294	broad.mit.edu	37	17	73827403	73827403	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:73827403G>A	ENST00000207549.4	-	26	2853	c.2474C>T	c.(2473-2475)aCa>aTa	p.T825I	UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	825	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)			CACTGTGAGTGTGTGGGTCCA	0.657									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.(2473-2475)aCa>aTa		unc-13 homolog D (C. elegans)							34.0	39.0	37.0					17																	73827403		2203	4300	6503	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.chr17:73827403G>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.2474C>T	17.37:g.73827403G>A	ENSP00000207549:p.Thr825Ile					UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I	p.T825I	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)		26	2853	-			825			MHD2.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.2474C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101169	0.56183	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.73258	-0.73;-0.73	4.81	4.81	0.61882	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.142200	0.49305	D	0.000152	T	0.56834	0.2012	L	0.31294	0.92	0.44207	D	0.997033	B	0.26577	0.153	B	0.25987	0.065	T	0.53457	-0.8436	10	0.27082	T	0.32	-1.3149	11.2092	0.48788	0.0852:0.0:0.9147:0.0	.	825	Q70J99	UN13D_HUMAN	I	825	ENSP00000207549:T825I;ENSP00000388093:T825I	ENSP00000207549:T825I	T	-	2	0	UNC13D	71338998	1.000000	0.71417	0.967000	0.41034	0.840000	0.47671	3.252000	0.51461	2.485000	0.83878	0.655000	0.94253	ACA		0.657	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		13	26	0	0	0	1	0	13	26				
HIST1H3B	8358	broad.mit.edu	37	6	26031999	26031999	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:26031999C>T	ENST00000244661.2	-	1	289	c.290G>A	c.(289-291)tGt>tAt	p.C97Y		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	97					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GTAGGCCTCACAAGCCTCCTG	0.577																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(289-291)tGt>tAt		histone cluster 1, H3b							72.0	73.0	73.0					6																	26031999		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031999C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.290G>A	6.37:g.26031999C>T	ENSP00000244661:p.Cys97Tyr						p.C97Y	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	289	-			97					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.290G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.309339	0.23821	.	.	ENSG00000124693	ENST00000244661	T	0.68479	-0.33	5.07	4.18	0.49190	.	.	.	.	.	T	0.70842	0.3270	.	.	.	0.37093	D	0.899538	.	.	.	.	.	.	T	0.77210	-0.2671	6	0.87932	D	0	.	14.6945	0.69110	0.0:0.8539:0.1461:0.0	.	.	.	.	Y	97	ENSP00000244661:C97Y	ENSP00000244661:C97Y	C	-	2	0	HIST1H3B	26139978	1.000000	0.71417	0.721000	0.30653	0.396000	0.30629	5.825000	0.69286	1.201000	0.43203	0.561000	0.74099	TGT		0.577	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		5	70	0	0	0	1	0	5	70				
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121.0	130.0	127.0					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		4	196	0	0	0	1	0	4	196				
IGKV3-11	28914	broad.mit.edu	37	2	89326755	89326755	+	RNA	SNP	C	C	T	rs552847121		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:89326755C>T	ENST00000483158.1	-	0	304									immunoglobulin kappa variable 3-11																		CTGTCCCAGACCCACTGCCAC	0.547																																						ENST00000483158.1																			0																				90.0	85.0	87.0					2																	89326755		1876	4101	5977			0							g.chr2:89326755C>T	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326755C>T														0	304	-									RNA	SNP	ENST00000483158.1	37																																																																																						0.547	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		34	101	0	0	0	1	0	34	101				
CDC16	8881	broad.mit.edu	37	13	115027372	115027372	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr13:115027372A>G	ENST00000356221.3	+	15	1433	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000360383.3_Missense_Mutation_p.D442G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000252458.6_Missense_Mutation_p.D297G			Q13042	CDC16_HUMAN	cell division cycle 16	442					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GTAACAGTTGACAAATGGGAA	0.378																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1324-1326)gAc>gGc		cell division cycle 16							203.0	196.0	199.0					13																	115027372		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115027372A>G	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1325A>G	13.37:g.115027372A>G	ENSP00000348554:p.Asp442Gly					CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000356221.3_Missense_Mutation_p.D442G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000252458.6_Missense_Mutation_p.D297G	p.D442G	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		15	1523	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	442					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1325A>G	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663769	0.67700	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	N	0.20845	0.615	0.80722	D	1	P;P;P	0.44734	0.842;0.588;0.453	B;B;B	0.43867	0.434;0.342;0.185	T	0.30149	-0.9988	9	.	.	.	-21.361	15.9954	0.80234	1.0:0.0:0.0:0.0	.	390;441;442	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	G	442;297;442;348;441;348;297	ENSP00000353549:D442G;ENSP00000348554:D442G;ENSP00000364459:D348G;ENSP00000252457:D441G;ENSP00000364457:D348G	.	D	+	2	0	CDC16	114045474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.447000	0.90332	2.184000	0.69523	0.455000	0.32223	GAC		0.378	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		5	80	0	0	0	1	0	5	80				
LPIN1	23175	broad.mit.edu	37	2	11955246	11955246	+	Missense_Mutation	SNP	G	G	A	rs398124543		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:11955246G>A	ENST00000256720.2	+	17	2267	c.2174G>A	c.(2173-2175)cGt>cAt	p.R725H	LPIN1_ENST00000425416.2_Missense_Mutation_p.R731H|LPIN1_ENST00000404113.2_Missense_Mutation_p.R226H|LPIN1_ENST00000396097.1_Missense_Mutation_p.R455H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R767H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R810H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	725	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGTTCTGCCCGTGCCATCGGG	0.527																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2173-2175)cGt>cAt		lipin 1							56.0	55.0	55.0					2																	11955246		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955246G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2174G>A	2.37:g.11955246G>A	ENSP00000256720:p.Arg725His					LPIN1_ENST00000404113.2_Missense_Mutation_p.R226H|LPIN1_ENST00000396099.1_Missense_Mutation_p.R767H|LPIN1_ENST00000449576.2_Missense_Mutation_p.R810H|LPIN1_ENST00000396097.1_Missense_Mutation_p.R455H|LPIN1_ENST00000425416.2_Missense_Mutation_p.R731H	p.R725H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2267	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		725			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2174G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149073	0.94645	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.69	4.69	0.59074	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96308	0.9226	10	0.87932	D	0	-14.9771	17.6508	0.88163	0.0:0.0:1.0:0.0	.	226;810;725	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	H	810;767;731;725;455;226	ENSP00000397908:R810H;ENSP00000379406:R767H;ENSP00000401522:R731H;ENSP00000256720:R725H;ENSP00000379404:R455H;ENSP00000386120:R226H	ENSP00000256720:R725H	R	+	2	0	LPIN1	11872697	1.000000	0.71417	0.494000	0.27515	0.982000	0.71751	9.282000	0.95840	2.156000	0.67533	0.655000	0.94253	CGT		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		8	53	0	0	0	1	0	8	53				
CEP85L	387119	broad.mit.edu	37	6	118790275	118790275	+	Silent	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr6:118790275C>T	ENST00000368491.3	-	12	2835	c.2214G>A	c.(2212-2214)caG>caA	p.Q738Q	CEP85L_ENST00000368488.5_Silent_p.Q741Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	738						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GCTCCTTGCCCTGAGCACGCT	0.368																																						ENST00000368491.3																			0											c.(2212-2214)caG>caA		centrosomal protein 85kDa-like							87.0	85.0	86.0					6																	118790275		1987	4178	6165	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790275C>T	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2214G>A	6.37:g.118790275C>T						CEP85L_ENST00000368488.5_Silent_p.Q741Q	p.Q738Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2835	-			738					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2214G>A	CCDS43498.1																																																																																				0.368	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	64	0	0	0	1	0	10	64				
YEATS2	55689	broad.mit.edu	37	3	183490196	183490196	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr3:183490196C>T	ENST00000305135.5	+	16	2246	c.2051C>T	c.(2050-2052)tCc>tTc	p.S684F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	684					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTCTGTCTCCAAAGCAGTT	0.537																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2050-2052)tCc>tTc		YEATS domain containing 2							104.0	102.0	102.0					3																	183490196		2007	4177	6184	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183490196C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2051C>T	3.37:g.183490196C>T	ENSP00000306983:p.Ser684Phe						p.S684F	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2246	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		684					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2051C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873752	0.51695	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.45276	0.9	5.48	5.48	0.80851	.	0.306464	0.31624	N	0.007336	T	0.27798	0.0684	N	0.19112	0.55	0.40172	D	0.977181	B	0.33448	0.412	B	0.25614	0.062	T	0.18745	-1.0327	10	0.72032	D	0.01	-0.0044	13.6288	0.62183	0.0:0.9256:0.0:0.0744	.	684	Q9ULM3	YETS2_HUMAN	F	684	ENSP00000306983:S684F	ENSP00000306983:S684F	S	+	2	0	YEATS2	184972890	1.000000	0.71417	0.951000	0.38953	0.888000	0.51559	5.717000	0.68446	2.576000	0.86940	0.467000	0.42956	TCC		0.537	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		20	73	0	0	0	1	0	20	73				
PMP2	5375	broad.mit.edu	37	8	82355665	82355665	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr8:82355665C>T	ENST00000256103.2	-	4	503	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	PMP2_ENST00000519260.1_3'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	123					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GTGCACACCACGCCCTTCATT	0.313																																						ENST00000256103.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(367-369)Gtg>Atg		peripheral myelin protein 2							103.0	103.0	103.0					8																	82355665		2203	4297	6500	SO:0001583	missense	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82355665C>T	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.367G>A	8.37:g.82355665C>T	ENSP00000256103:p.Val123Met					RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_3'UTR	p.V123M	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	Epithelial(68;0.186)		4	503	-			123					Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	c.367G>A	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810970	0.70797	.	.	ENSG00000147588	ENST00000256103	T	0.09350	2.99	5.29	4.37	0.52481	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.062187	0.64402	D	0.000004	T	0.33818	0.0876	M	0.90082	3.085	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.30446	-0.9978	10	0.87932	D	0	.	10.7465	0.46183	0.0:0.9048:0.0:0.0952	.	123	P02689	MYP2_HUMAN	M	123	ENSP00000256103:V123M	ENSP00000256103:V123M	V	-	1	0	PMP2	82518220	0.003000	0.15002	0.977000	0.42913	0.968000	0.65278	0.431000	0.21444	1.302000	0.44855	0.585000	0.79938	GTG		0.313	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		5	148	0	0	0	1	0	5	148				
SLAMF6	114836	broad.mit.edu	37	1	160460930	160460930	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr1:160460930G>T	ENST00000368057.3	-	3	691	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100K|SLAMF6_ENST00000368059.3_Missense_Mutation_p.Q211K			Q96DU3	SLAF6_HUMAN	SLAM family member 6	211						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CAAAGCTTCTGGGCAGAGACA	0.498																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(631-633)Cag>Aag		SLAM family member 6							82.0	83.0	83.0					1																	160460930		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460930G>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.631C>A	1.37:g.160460930G>T	ENSP00000357036:p.Gln211Lys					SLAMF6_ENST00000368055.1_Missense_Mutation_p.Q100K|SLAMF6_ENST00000368057.3_Missense_Mutation_p.Q211K	p.Q211K	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	700	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		211					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.631C>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	6.182	0.401777	0.11696	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.37058	1.22;1.22;1.22	4.37	-1.9	0.07665	.	0.843244	0.10443	N	0.674062	T	0.12305	0.0299	L	0.60845	1.875	0.09310	N	1	B;P;B;B;B;B	0.42296	0.449;0.775;0.159;0.073;0.296;0.09	B;B;B;B;B;B	0.39660	0.191;0.306;0.034;0.034;0.102;0.057	T	0.25984	-1.0116	10	0.06099	T	0.92	-0.2907	12.6818	0.56926	0.0:0.0:0.2428:0.7572	.	100;100;162;211;211;211	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	K	211;211;100	ENSP00000357038:Q211K;ENSP00000357036:Q211K;ENSP00000357034:Q100K	ENSP00000357034:Q100K	Q	-	1	0	SLAMF6	158727554	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.978000	0.03778	-0.093000	0.12396	0.655000	0.94253	CAG		0.498	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		11	45	1	0	6.40141e-05	1	7.11268e-05	11	45				
TIA1	7072	broad.mit.edu	37	2	70439876	70439876	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:70439876C>T	ENST00000433529.2	-	13	1346	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	TIA1_ENST00000415783.2_Missense_Mutation_p.R368Q|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.R378Q|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000445587.1_Missense_Mutation_p.R278Q	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	379					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CCCTGCCACTCGATACCCAGA	0.488																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(1135-1137)cGa>cAa		TIA1 cytotoxic granule-associated RNA binding protein							154.0	142.0	146.0					2																	70439876		2203	4300	6503	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70439876C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.1136G>A	2.37:g.70439876C>T	ENSP00000401371:p.Arg379Gln					TIA1_ENST00000282574.4_Missense_Mutation_p.R378Q|TIA1_ENST00000415783.2_Missense_Mutation_p.R368Q|TIA1_ENST00000445587.1_Missense_Mutation_p.R278Q|C2orf42_ENST00000470096.1_Intron	p.R379Q	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN			13	1346	-			379					Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.1136G>A	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274874	0.23307	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587	T;T;T;T	0.25085	1.82;1.99;1.91;1.95	5.97	4.2	0.49525	.	0.113869	0.64402	D	0.000014	T	0.11879	0.0289	N	0.14661	0.345	0.80722	D	1	P;P	0.50369	0.871;0.934	B;B	0.35550	0.205;0.101	T	0.09729	-1.0661	10	0.19590	T	0.45	-6.8862	11.5037	0.50451	0.0:0.8552:0.0:0.1448	.	368;379	P31483-2;P31483	.;TIA1_HUMAN	Q	379;368;456;378;278	ENSP00000401371:R379Q;ENSP00000404023:R368Q;ENSP00000282574:R378Q;ENSP00000399567:R278Q	ENSP00000282574:R378Q	R	-	2	0	TIA1	70293380	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.057000	0.64294	0.878000	0.35920	0.655000	0.94253	CGA		0.488	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		37	136	0	0	0	1	0	37	136				
DOCK1	1793	broad.mit.edu	37	10	129207655	129207655	+	Splice_Site	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr10:129207655G>A	ENST00000280333.6	+	42	4389	c.4280G>A	c.(4279-4281)aGt>aAt	p.S1427N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1427	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGATTGTAAGGTAATAATCC	0.448																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.e42+1		dedicator of cytokinesis 1							112.0	108.0	109.0					10																	129207655		1932	4137	6069	SO:0001630	splice_region_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129207655G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4280+1G>A	10.37:g.129207655G>A							p.S1427_splice	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	42	4389	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1427			DHR-2.		A9Z1Z5	Splice_Site	SNP	ENST00000280333.6	37	c.4280_splice		.	.	.	.	.	.	.	.	.	.	G	0.772	-0.765553	0.02996	.	.	ENSG00000150760	ENST00000280333	T	0.17691	2.26	5.1	3.25	0.37280	.	0.086443	0.85682	N	0.000000	T	0.06416	0.0165	N	0.03891	-0.335	0.58432	D	0.999994	B;B;B	0.25007	0.0;0.116;0.0	B;B;B	0.29267	0.002;0.1;0.006	T	0.25117	-1.0141	10	0.02654	T	1	.	10.0356	0.42127	0.0709:0.0:0.7912:0.1378	.	1427;1493;1427	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	N	1427	ENSP00000280333:S1427N	ENSP00000280333:S1427N	S	+	2	0	DOCK1	129097645	1.000000	0.71417	0.591000	0.28745	0.592000	0.36648	2.844000	0.48246	0.731000	0.32448	0.655000	0.94253	AGT		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	Missense_Mutation	6	56	0	0	0	1	0	6	56				
MYH10	4628	broad.mit.edu	37	17	8448867	8448867	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:8448867G>A	ENST00000269243.4	-	12	1438	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	MYH10_ENST00000360416.3_Missense_Mutation_p.R444C|MYH10_ENST00000396239.1_Missense_Mutation_p.R434C|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.R450C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	434	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ACGAGCCAGCGAAAGAGCCGC	0.403																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1330-1332)Cgc>Tgc		myosin, heavy chain 10, non-muscle							97.0	98.0	98.0					17																	8448867		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448867G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1300C>T	17.37:g.8448867G>A	ENSP00000269243:p.Arg434Cys					MYH10_ENST00000396239.1_Missense_Mutation_p.R434C|MYH10_ENST00000379980.4_Missense_Mutation_p.R450C|MYH10_ENST00000269243.4_Missense_Mutation_p.R434C	p.R444C	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			13	1468	-			434			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1330C>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178620	0.94846	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.987;0.987;0.99	D	0.93871	0.7162	10	0.72032	D	0.01	.	18.844	0.92196	0.0:0.0:1.0:0.0	.	443;444;434	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	434;444;434;450	ENSP00000269243:R434C;ENSP00000353590:R444C;ENSP00000379539:R434C;ENSP00000369315:R450C	ENSP00000269243:R434C	R	-	1	0	MYH10	8389592	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.543000	0.98089	2.745000	0.94114	0.655000	0.94253	CGC		0.403	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			20	52	0	0	0	1	0	20	52				
SLCO6A1	133482	broad.mit.edu	37	5	101735275	101735275	+	Missense_Mutation	SNP	C	C	T	rs547449839		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr5:101735275C>T	ENST00000506729.1	-	10	1969	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V538I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V600I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	600						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATGGCCAAGACGATTGGTACA	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13926	0.0		0.0	False		,,,				2504	0.0					ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1798-1800)Gtc>Atc		solute carrier organic anion transporter family, member 6A1							72.0	69.0	70.0					5																	101735275		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735275C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1798G>A	5.37:g.101735275C>T	ENSP00000421339:p.Val600Ile					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V347I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V600I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V538I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V347I	p.V600I			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1969	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	600					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1798G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641310	0.14451	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.42	0.12	0.14691	Major facilitator superfamily domain, general substrate transporter (1);	0.637869	0.15375	N	0.265629	T	0.10895	0.0266	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.15930	0.0;0.015;0.0	B;B;B	0.18263	0.0;0.021;0.001	T	0.33904	-0.9850	10	0.14252	T	0.57	.	5.9224	0.19091	0.0:0.1628:0.1416:0.6957	.	538;347;600	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	600;600;538;347;347	ENSP00000421339:V600I;ENSP00000369135:V600I;ENSP00000373671:V538I;ENSP00000421990:V347I;ENSP00000369138:V347I	ENSP00000369135:V600I	V	-	1	0	SLCO6A1	101763174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.135000	0.10420	-0.084000	0.12595	-1.119000	0.02030	GTC		0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		17	52	0	0	0	1	0	17	52				
LRP1B	53353	broad.mit.edu	37	2	141072599	141072599	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr2:141072599C>A	ENST00000389484.3	-	83	13681	c.12710G>T	c.(12709-12711)tGt>tTt	p.C4237F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAACAGTGACACCTCAAATC	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12709-12711)tGt>tTt		low density lipoprotein receptor-related protein 1B							154.0	139.0	144.0					2																	141072599		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072599C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12710G>T	2.37:g.141072599C>A	ENSP00000374135:p.Cys4237Phe	TSP Lung(27;0.18)					p.C4237F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13681	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4237			EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12710G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.105208|4.105208	0.77096|0.77096	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.88124|.	-2.34|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.124659|.	0.56097|.	D|.	0.000035|.	T|T	0.76463|0.76463	0.3991|0.3991	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.72414|0.72414	-0.4301|-0.4301	10|5	0.49607|.	T|.	0.09|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4237|.	Q9NZR2|.	LRP1B_HUMAN|.	F|F	4237;4175|469	ENSP00000374135:C4237F|.	ENSP00000374135:C4237F|.	C|V	-|-	2|1	0|0	LRP1B|LRP1B	140789069|140789069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.284000|7.284000	0.78650|0.78650	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	77	1	0	0.150653	1	0.158583	4	77				
ABCA13	154664	broad.mit.edu	37	7	48315425	48315425	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr7:48315425C>A	ENST00000435803.1	+	17	6186	c.6162C>A	c.(6160-6162)aaC>aaA	p.N2054K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2054					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						CACCTTACAACTTTGAAGAAC	0.343																																						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.(6160-6162)aaC>aaA		ATP-binding cassette, sub-family A (ABC1), member 13							40.0	38.0	39.0					7																	48315425		1822	4085	5907	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315425C>A	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.6162C>A	7.37:g.48315425C>A	ENSP00000411096:p.Asn2054Lys						p.N2054K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	6186	+			2054					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6162C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896855	0.17686	.	.	ENSG00000179869	ENST00000435803	T	0.10573	2.86	4.65	-0.886	0.10590	.	0.532367	0.16919	N	0.194141	T	0.05593	0.0147	L	0.39633	1.23	0.09310	N	1	P	0.34462	0.454	B	0.24974	0.057	T	0.30208	-0.9986	9	.	.	.	.	1.9436	0.03352	0.2706:0.4342:0.1322:0.1629	.	2054	Q86UQ4	ABCAD_HUMAN	K	2054	ENSP00000411096:N2054K	.	N	+	3	2	ABCA13	48285971	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.114000	0.10757	0.126000	0.18424	0.484000	0.47621	AAC		0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	32	1	0	0.014758	1	0.0159546	4	32				
SLC30A9	10463	broad.mit.edu	37	4	42024869	42024869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr4:42024869delT	ENST00000264451.7	+	5	629	c.449delT	c.(448-450)cttfs	p.L150fs		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	150					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAGAACAACTTCGAAAAATC	0.343																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(448-450)ctfs		solute carrier family 30 (zinc transporter), member 9							81.0	87.0	85.0					4																	42024869		2203	4299	6502	SO:0001589	frameshift_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42024869delT	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.449delT	4.37:g.42024869delT	ENSP00000264451:p.Leu150fs						p.L150fs	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			5	629	+			150					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Frame_Shift_Del	DEL	ENST00000264451.7	37	c.449delT	CCDS3465.1																																																																																				0.343	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			28	60						28	60	---	---	---	---
PNPLA2	57104	broad.mit.edu	37	11	819818	819818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:819818delC	ENST00000336615.4	+	2	302	c.100delC	c.(100-102)cccfs	p.P34fs		NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	34	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCACGCGCCCTTCCTGGT	0.716																																						ENST00000336615.4																			0				breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(100-102)ccfs		patatin-like phospholipase domain containing 2							10.0	8.0	9.0					11																	819818		2161	4228	6389	SO:0001589	frameshift_variant	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:819818delC	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.100delC	11.37:g.819818delC	ENSP00000337701:p.Pro34fs						p.P34fs	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	302	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	34			Patatin.		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Frame_Shift_Del	DEL	ENST00000336615.4	37	c.100delC	CCDS7718.1																																																																																				0.716	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		2	4						2	4	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62484484	62484486	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr11:62484484_62484486delTTC	ENST00000301785.5	-	11	2148_2150	c.1956_1958delGAA	c.(1954-1959)cagaac>cac	p.652_653QN>H	HNRNPUL2-BSCL2_ENST00000403734.2_In_Frame_Del_p.652_653QN>H	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	652						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCGGCTTCGGTTCTGCCGGTTAC	0.557																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1954-1959)cac>ca		heterogeneous nuclear ribonucleoprotein U-like 2																																				SO:0001651	inframe_deletion	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62484484_62484486delTTC		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1956_1958delGAA	11.37:g.62484484_62484486delTTC	ENSP00000301785:p.Gln652_Asn653delinsHis					RP11-831H9.16_ENST00000403734.2_In_Frame_Del_p.QN652del	p.QN652del	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			11	2148_2150	-			652					Q8N3B3	In_Frame_Del	DEL	ENST00000301785.5	37	c.1956_1958delGAA	CCDS41659.1																																																																																				0.557	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		20	72						20	72	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783					ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(334-339)gggctc>ggGGCGGCgctc		DDHD domain containing 1																																				SO:0001652	inframe_insertion	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619480_53619481insGCCGCC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup					DDHD1_ENST00000323669.5_In_Frame_Ins_p.112_113GL>GAAL|DDHD1_ENST00000395606.1_In_Frame_Ins_p.112_113GL>GAAL	p.112_113GL>GAAL	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN			1	519_520	-	Breast(41;0.037)		112					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	c.336_337insGGCGGC	CCDS53895.1																																																																																				0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			8	5						8	5	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		7	92						7	92	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-VP-A879-01A-11D-A34U-08	TCGA-VP-A879-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff201859-353a-48ec-80f0-4efbd0274515	d19f8f3a-2084-4991-b2d4-e42c6747adc5	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	6						3	6	---	---	---	---
