#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
GABRB3	2562	broad.mit.edu	37	15	26806094	26806094	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:26806094C>G	ENST00000311550.5	-	8	1176	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N	GABRB3_ENST00000541819.2_Missense_Mutation_p.K411N|GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTCGCTCTTTGAACGGT	0.473																																						uc001zbb.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1231-1233)aaG>aaC		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						247.0	266.0	259.0					15																	26806094		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:26806094C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1065G>C	15.37:g.26806094C>G	ENSP00000308725:p.Lys355Asn					GABRB3_uc021sgg.1_Missense_Mutation_p.K284N|GABRB3_uc021sgh.1_Missense_Mutation_p.K270N|GABRB3_uc001zaz.3_Missense_Mutation_p.K355N|GABRB3_uc001zba.3_Missense_Mutation_p.K355N	p.K411N	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1336	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	355					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1233G>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491569	0.26774	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.19	1.84	0.25277	Neurotransmitter-gated ion-channel transmembrane domain (2);	38.769200	0.00166	N	0.000000	D	0.83175	0.5197	M	0.64404	1.975	0.20563	N	0.999882	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.12156	0.007;0.005;0.003	T	0.58907	-0.7553	10	0.21540	T	0.41	.	7.8462	0.29426	0.0:0.6015:0.0:0.3985	.	411;355;355	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	355;411;355;284;270	ENSP00000308725:K355N;ENSP00000442408:K411N;ENSP00000299267:K355N;ENSP00000383049:K284N;ENSP00000439169:K270N	ENSP00000299267:K355N	K	-	3	2	GABRB3	24357187	0.979000	0.34478	0.450000	0.26969	0.886000	0.51366	1.027000	0.30115	0.570000	0.29347	0.655000	0.94253	AAG		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			3	178	0	0	0	1	0	3	178				
TJP1	7082	broad.mit.edu	37	15	30001016	30001016	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:30001016T>C	ENST00000346128.6	-	25	5071	c.4597A>G	c.(4597-4599)Aca>Gca	p.T1533A	TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A|TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A|TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1533					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAACTTGTATATGGTTTT	0.403																																					Melanoma(77;681 1843 6309 6570)	uc010azl.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4561-4563)Aca>Gca		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							307.0	285.0	292.0					15																	30001016		1919	4143	6062	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		g.chr15:30001016T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4597A>G	15.37:g.30001016T>C	ENSP00000281537:p.Thr1533Ala					TJP1_uc001zcq.3_Missense_Mutation_p.T1457A|TJP1_uc001zcr.3_Missense_Mutation_p.T1533A|TJP1_uc001zcs.3_Missense_Mutation_p.T1453A	p.T1521A	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	23	4570	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1533					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4561A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097789	0.76870	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.60548	0.18;0.18	5.65	4.5	0.54988	.	0.048578	0.85682	D	0.000000	T	0.57373	0.2049	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.49090	0.919;0.875;0.864;0.875	P;P;P;P	0.45037	0.452;0.467;0.452;0.467	T	0.61686	-0.7012	10	0.72032	D	0.01	.	12.0253	0.53367	0.1294:0.0:0.0:0.8706	.	1526;1453;1533;1457	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1533;1457;1533;1453;1453	ENSP00000281537:T1533A;ENSP00000382890:T1457A	ENSP00000281537:T1533A	T	-	1	0	TJP1	27788308	1.000000	0.71417	0.138000	0.22173	0.979000	0.70002	7.525000	0.81892	1.113000	0.41760	0.533000	0.62120	ACA		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		5	305	0	0	0	1	0	5	305				
C1orf210	149466	broad.mit.edu	37	1	43748745	43748745	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:43748745G>A	ENST00000523677.1	-	3	286	c.53C>T	c.(52-54)tCt>tTt	p.S18F	C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	18						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCACAGCAGACGCTGTGGG	0.627																																						uc001cit.4																			0				breast(1)	1						c.(52-54)tCt>tTt		Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.							27.0	29.0	29.0					1																	43748745		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748745G>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.53C>T	1.37:g.43748745G>A	ENSP00000430918:p.Ser18Phe					C1orf210_uc021omn.1_Missense_Mutation_p.S18F	p.S18F	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN			2	287	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	18					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.53C>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646650	0.67358	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.49139	0.79;0.79	4.96	4.96	0.65561	.	1.099970	0.06888	N	0.803735	T	0.67739	0.2925	M	0.70595	2.14	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.59144	-0.7509	10	0.72032	D	0.01	.	15.5093	0.75766	0.0:0.0:1.0:0.0	.	18	Q8IVY1	CA210_HUMAN	F	18	ENSP00000430918:S18F;ENSP00000429399:S18F	ENSP00000429399:S18F	S	-	2	0	C1orf210	43521332	0.119000	0.22226	0.025000	0.17156	0.114000	0.19823	2.530000	0.45641	2.580000	0.87095	0.561000	0.74099	TCT		0.627	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		5	21	0	0	0	1	0	5	21				
SIRPD	128646	broad.mit.edu	37	20	1532407	1532407	+	Nonsense_Mutation	SNP	G	G	T	rs376805676		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:1532407G>T	ENST00000381623.3	-	2	1540	c.351C>A	c.(349-351)tgC>tgA	p.C117*	SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117*			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	117	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGAACTTCACGCAGTAATAGG	0.493																																						uc002wfi.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(349-351)tgC>tgA		Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.							150.0	144.0	146.0					20																	1532407		2203	4300	6503	SO:0001587	stop_gained	128646					extracellular region		g.chr20:1532407G>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.351C>A	20.37:g.1532407G>T	ENSP00000371036:p.Cys117*						p.C117*	NM_178460	NP_848555	Q9H106	SIRPD_HUMAN			1	395	-			117			Ig-like V-type.		B3KS88|Q5TFQ6	Nonsense_Mutation	SNP	ENST00000381623.3	37	c.351C>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762526	0.31228	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	.	.	.	3.69	-4.1	0.03940	.	0.000000	0.43110	U	0.000601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7681	0.40574	0.7489:0.0:0.2511:0.0	.	.	.	.	X	117	.	ENSP00000371034:C117X	C	-	3	2	SIRPD	1480407	0.973000	0.33851	0.286000	0.24833	0.158000	0.22134	-0.148000	0.10219	-1.318000	0.02289	-0.966000	0.02617	TGC		0.493	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		3	98	0	0	0	1	0	3	98				
PLEKHG2	64857	broad.mit.edu	37	19	39913841	39913841	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:39913841G>A	ENST00000409794.3	+	18	2997	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S687N	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	716					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTTCTGGGAGCAATCCTGGG	0.592																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2146-2148)aGc>aAc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							64.0	74.0	70.0					19																	39913841		2203	4299	6502	SO:0001583	missense	64857				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	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913841G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2147G>A	19.37:g.39913841G>A	ENSP00000386733:p.Ser716Asn					PLEKHG2_uc010xuy.2_Missense_Mutation_p.S657N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S494N	p.S716N	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	2472	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		716					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2147G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.691|4.691	0.128497|0.128497	0.08981|0.08981	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.71579	.|-0.44;-0.49;-0.58	5.13|5.13	-2.55|-2.55	0.06288|0.06288	.|.	.|0.812659	.|0.11000	.|N	.|0.610544	T|T	0.52108|0.52108	0.1714|0.1714	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.09022	.|0.002;0.001;0.002	.|B;B;B	.|0.08055	.|0.003;0.002;0.002	T|T	0.45205|0.45205	-0.9277|-0.9277	5|10	.|0.72032	.|D	.|0.01	.|.	5.154|5.154	0.15025|0.15025	0.4672:0.1499:0.3828:0.0|0.4672:0.1499:0.3828:0.0	.|.	.|687;716;657	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	T|N	584|716;687;657	.|ENSP00000386733:S716N;ENSP00000392906:S687N;ENSP00000408857:S657N	.|ENSP00000386733:S716N	A|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605681|44605681	0.012000|0.012000	0.17670|0.17670	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.050000|0.050000	0.14120|0.14120	-0.166000|-0.166000	0.10890|0.10890	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.592	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		3	88	0	0	0	1	0	3	88				
CNGA1	1259	broad.mit.edu	37	4	47939187	47939187	+	Missense_Mutation	SNP	A	A	G	rs200583020		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:47939187A>G	ENST00000514170.1	-	11	1643	c.1324T>C	c.(1324-1326)Tgg>Cgg	p.W442R	CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R|CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000402813.3_Missense_Mutation_p.W511R|CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	442					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTGTTGGTCCACAGGTAGTCA	0.328																																						uc003gxu.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1531-1533)Tgg>Cgg		Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.							142.0	135.0	137.0					4																	47939187		1858	4092	5950	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939187A>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1324T>C	4.37:g.47939187A>G	ENSP00000426862:p.Trp442Arg					BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.W442R	p.W511R	NM_001142564	NP_000078	P29973	CNGA1_HUMAN			9	1672	-			442					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1531T>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626584	0.46840	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	5.22	5.22	0.72569	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.93763	3.455	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.51297	0.665;0.665	D	0.98911	1.0780	10	0.66056	D	0.02	.	15.1249	0.72475	1.0:0.0:0.0:0.0	.	442;442	Q4W5E3;P29973	.;CNGA1_HUMAN	R	511;442;442;442;442	ENSP00000384264:W511R;ENSP00000426862:W442R;ENSP00000443401:W442R;ENSP00000351320:W442R;ENSP00000389881:W442R	ENSP00000351320:W442R	W	-	1	0	CNGA1	47633944	1.000000	0.71417	0.994000	0.49952	0.812000	0.45895	8.962000	0.93254	1.971000	0.57363	0.402000	0.26972	TGG		0.328	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		5	122	0	0	0	1	0	5	122				
DNMT3A	1788	broad.mit.edu	37	2	25497865	25497865	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:25497865G>A	ENST00000264709.3	-	6	921	c.584C>T	c.(583-585)cCc>cTc	p.P195L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	195					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTAGTAGGGGTCCCCCGC	0.701			"""Mis, F, N, S"""		AML																																	uc002rgc.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(583-585)cCc>cTc		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.							39.0	37.0	38.0					2																	25497865		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497865G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.584C>T	2.37:g.25497865G>A	ENSP00000264709:p.Pro195Leu					DNMT3A_uc002rgd.3_Missense_Mutation_p.P195L|DNMT3A_uc010eyi.3_Non-coding_Transcript	p.P195L	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN			5	841	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.584C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616222	0.66672	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.94330	-3.4;-3.4	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	D	0.90758	0.7099	N	0.24115	0.695	0.80722	D	1	P	0.51791	0.948	P	0.48189	0.57	D	0.92179	0.5750	10	0.66056	D	0.02	-8.2269	16.3295	0.83004	0.0:0.0:1.0:0.0	.	195	Q9Y6K1	DNM3A_HUMAN	L	195	ENSP00000324375:P195L;ENSP00000264709:P195L	ENSP00000264709:P195L	P	-	2	0	DNMT3A	25351369	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.004000	0.93583	2.448000	0.82819	0.561000	0.74099	CCC		0.701	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	16	0	0	0	1	0	8	16				
CNTLN	54875	broad.mit.edu	37	9	17236415	17236415	+	Silent	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr9:17236415G>A	ENST00000380647.3	+	5	762	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K|CNTLN_ENST00000425824.1_Silent_p.K226K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	226					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGACACTAAGGAGTGTGTAC	0.368																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(676-678)aaG>aaA		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							83.0	83.0	83.0					9																	17236415		1821	4081	5902	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17236415G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.678G>A	9.37:g.17236415G>A						CNTLN_uc003zmx.4_Silent_p.K226K|CNTLN_uc003zmy.3_Silent_p.K226K|CNTLN_uc010mio.3_5'UTR	p.K226K	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	4	704	+			226					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.678G>A	CCDS43789.1																																																																																				0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		11	45	0	0	0	1	0	11	45				
PLA2G4F	255189	broad.mit.edu	37	15	42434347	42434347	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:42434347C>A	ENST00000382396.4	-	20	2471	c.2385G>T	c.(2383-2385)agG>agT	p.R795S	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R797S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	795	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGTGTCTGGCCTGTTGATGA	0.567																																						uc001zoz.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2383-2385)agG>agT		Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.							89.0	78.0	82.0					15																	42434347		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434347C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2385G>T	15.37:g.42434347C>A	ENSP00000371833:p.Arg795Ser					PLA2G4F_uc010bcq.3_Missense_Mutation_p.R92S|PLA2G4F_uc001zoy.3_Missense_Mutation_p.R427S|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R582S	p.R795S	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	19	2477	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	795			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2385G>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652361	0.14580	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.03920	3.76;3.76	5.21	1.97	0.26223	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.517766	0.18900	N	0.128068	T	0.01592	0.0051	N	0.02247	-0.625	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.47861	-0.9084	10	0.11485	T	0.65	-19.536	4.0488	0.09785	0.0:0.3291:0.2593:0.4116	.	582;797;795	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	S	791;797;795;795	ENSP00000380442:R797S;ENSP00000371833:R795S	ENSP00000290497:R791S	R	-	3	2	PLA2G4F	40221639	0.001000	0.12720	0.934000	0.37439	0.338000	0.28826	-0.394000	0.07296	0.714000	0.32081	0.655000	0.94253	AGG		0.567	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	64	0	0	0	1	0	3	64				
SLC26A8	116369	broad.mit.edu	37	6	35923195	35923195	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:35923195C>G	ENST00000490799.1	-	17	2319	c.1966G>C	c.(1966-1968)Gca>Cca	p.A656P	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCGGATGCAGTTTGGCTT	0.443																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1966-1968)Gca>Cca		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							256.0	240.0	245.0					6																	35923195		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923195C>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1966G>C	6.37:g.35923195C>G	ENSP00000417638:p.Ala656Pro					SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A238P|SLC26A8_uc003oll.3_Missense_Mutation_p.A551P|SLC26A8_uc003oln.3_Missense_Mutation_p.A656P	p.A656P	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN			16	2077	-			656			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1966G>C	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	1.806	-0.475827	0.04414	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94931	-3.24;-3.56;-3.24	5.01	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.870550	0.00682	N	0.000687	T	0.69833	0.3155	N	0.19112	0.55	0.09310	N	1	B;B;P	0.34757	0.301;0.446;0.467	B;B;B	0.33799	0.089;0.17;0.154	T	0.67673	-0.5610	10	0.30854	T	0.27	.	4.8689	0.13622	0.3629:0.3926:0.069:0.1755	.	656;551;238	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	P	656;551;656	ENSP00000417638:A656P;ENSP00000378100:A551P;ENSP00000347778:A656P	ENSP00000347778:A656P	A	-	1	0	SLC26A8	36031173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-6.264000	0.00005	-2.850000	0.00103	GCA		0.443	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			49	75	0	0	0	1	0	49	75				
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552																																						uc010cwt.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1012-1014)cGg>cAg		Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.		G	GLN/ARG	0,4406		0,0,2203	205.0	196.0	199.0		1013	4.8	1.0	17	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASC3	NM_007359.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	338/704	38319961	2,13004	2203	4300	6503	SO:0001583	missense	22794				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding	g.chr17:38319961G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1013G>A	17.37:g.38319961G>A	ENSP00000264645:p.Arg338Gln					CASC3_uc010cws.1_Missense_Mutation_p.R338Q|CASC3_uc002hue.3_Missense_Mutation_p.R338Q	p.R338Q	NM_007359	NP_031385	O15234	CASC3_HUMAN			6	1308	+			338					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1013G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460726	0.84317	0.0	2.33E-4	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.76	0.60689	.	0.368102	0.27159	N	0.020656	T	0.21145	0.0509	N	0.19112	0.55	0.30776	N	0.742493	P;P	0.52692	0.955;0.817	B;B	0.38194	0.267;0.143	T	0.11616	-1.0580	9	0.40728	T	0.16	-15.3922	10.9762	0.47467	0.1447:0.0:0.8553:0.0	.	338;338	B4DKR6;O15234	.;CASC3_HUMAN	Q	338	.	ENSP00000264645:R338Q	R	+	2	0	CASC3	35573487	0.917000	0.31117	1.000000	0.80357	0.982000	0.71751	4.458000	0.60095	2.717000	0.92951	0.655000	0.94253	CGG		0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		4	228	0	0	0	1	0	4	228				
CENPF	1063	broad.mit.edu	37	1	214820611	214820611	+	Silent	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:214820611G>A	ENST00000366955.3	+	13	7866	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2662	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGGAATTGGAGCAGAAGATCC	0.433																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(7696-7698)gaG>gaA		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							82.0	80.0	80.0					1																	214820611		2203	4300	6503	SO:0001819	synonymous_variant	1063				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214820611G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7698G>A	1.37:g.214820611G>A							p.E2566E	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	7872	+			2662			2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.7698G>A	CCDS31023.1																																																																																				0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		3	76	0	0	0	1	0	3	76				
VWA9	81556	broad.mit.edu	37	15	65877142	65877142	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65877142T>C	ENST00000395644.4	-	10	1540	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	VWA9_ENST00000313182.2_Missense_Mutation_p.N402S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S|VWA9_ENST00000569180.1_5'Flank|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	402																	GACAGTCACATTCTGGGCATA	0.468																																						uc010uix.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(1312-1314)aAt>aGt		Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.							149.0	130.0	137.0					15																	65877142		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65877142T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1205A>G	15.37:g.65877142T>C	ENSP00000379006:p.Asn402Ser					C15orf44_uc002apd.3_Missense_Mutation_p.N402S|C15orf44_uc010uja.2_Missense_Mutation_p.N384S|C15orf44_uc010ujb.2_Missense_Mutation_p.N345S|C15orf44_uc002ape.4_Missense_Mutation_p.N402S|C15orf44_uc010uiy.2_Missense_Mutation_p.N323S|C15orf44_uc010uiz.2_Missense_Mutation_p.N366S	p.N438S			Q96SY0	CO044_HUMAN			9	1701	-			402					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.1313A>G		.	.	.	.	.	.	.	.	.	.	T	13.85	2.361630	0.41801	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	5.65	0.86999	.	0.170574	0.64402	D	0.000006	T	0.49253	0.1546	L	0.33485	1.01	0.58432	D	0.999993	B;B;B;B	0.32101	0.356;0.02;0.134;0.134	B;B;B;B	0.33454	0.164;0.02;0.018;0.018	T	0.47114	-0.9142	9	0.37606	T	0.19	-33.4736	16.0399	0.80667	0.0:0.0:0.0:1.0	.	352;366;438;402	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	S	402;402;323;345;366	.	ENSP00000326379:N402S	N	-	2	0	C15orf44	63664195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.371000	0.80710	0.533000	0.62120	AAT		0.468	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		14	26	0	0	0	1	0	14	26				
PKHD1L1	93035	broad.mit.edu	37	8	110457580	110457580	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:110457580G>A	ENST00000378402.5	+	38	5586	c.5482G>A	c.(5482-5484)Gtc>Atc	p.V1828I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1828	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACCTGACTGTCAGCAGCCC	0.493										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5482-5484)Gtc>Atc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							83.0	84.0	84.0					8																	110457580		1952	4142	6094	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457580G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5482G>A	8.37:g.110457580G>A	ENSP00000367655:p.Val1828Ile	HNSCC(38;0.096)					p.V1828I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	5586	+			1828			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5482G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	2.362	-0.346275	0.05208	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.03	-2.74	0.05932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.461140	0.21276	N	0.077233	T	0.75831	0.3903	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.60281	-0.7294	10	0.35671	T	0.21	.	6.686	0.23146	0.3221:0.3311:0.3467:0.0	.	1828	Q86WI1	PKHL1_HUMAN	I	1828	ENSP00000367655:V1828I	ENSP00000367655:V1828I	V	+	1	0	PKHD1L1	110526756	0.594000	0.26849	0.004000	0.12327	0.148000	0.21650	0.782000	0.26788	-0.627000	0.05589	-0.878000	0.02970	GTC		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	76	0	0	0	1	0	4	76				
NPFFR2	10886	broad.mit.edu	37	4	73013276	73013276	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:73013276A>G	ENST00000308744.6	+	4	1414	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	439					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGTTTCTTCAACGAGAATTTC	0.453																																						uc003hgg.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1315-1317)aAc>aGc		Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.							85.0	87.0	86.0					4																	73013276		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013276A>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1316A>G	4.37:g.73013276A>G	ENSP00000307822:p.Asn439Ser					NPFFR2_uc010iig.2_Missense_Mutation_p.N221S|NPFFR2_uc003hgi.2_Missense_Mutation_p.N340S|NPFFR2_uc003hgh.2_Missense_Mutation_p.N337S	p.N439S	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		3	1414	+			439					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1316A>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946377	0.53079	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.39997	1.05;1.05;1.05	5.83	5.83	0.93111	.	0.331540	0.25948	N	0.027278	T	0.64789	0.2630	M	0.74467	2.265	0.80722	D	1	D;D	0.64830	0.994;0.974	D;P	0.69824	0.966;0.878	T	0.66830	-0.5824	10	0.54805	T	0.06	.	15.8582	0.79000	1.0:0.0:0.0:0.0	.	340;439	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	S	439;340;337	ENSP00000307822:N439S;ENSP00000379321:N340S;ENSP00000351599:N337S	ENSP00000307822:N439S	N	+	2	0	NPFFR2	73232140	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.195000	0.94971	2.225000	0.72522	0.533000	0.62120	AAC		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		24	65	0	0	0	1	0	24	65				
HEY2	23493	broad.mit.edu	37	6	126080274	126080274	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:126080274G>A	ENST00000368364.3	+	5	537	c.340G>A	c.(340-342)Gca>Aca	p.A114T	HEY2_ENST00000368365.1_Missense_Mutation_p.A68T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	114	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A114P(1)|p.A114T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTACTTTGACGCACACGCTCT	0.527																																						uc003qad.3																			2	Substitution - Missense(2)	p.A114P(2)|p.A114T(2)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(340-342)Gca>Aca		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							127.0	119.0	122.0					6																	126080274		2203	4300	6503	SO:0001583	missense	23493				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding	g.chr6:126080274G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.340G>A	6.37:g.126080274G>A	ENSP00000357348:p.Ala114Thr					HEY2_uc011ebr.2_Missense_Mutation_p.A68T	p.A114T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	4	531	+			114			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.340G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789287	0.96945	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.23727	0.0574	L	0.42581	1.335	0.80722	D	1	B	0.28584	0.216	B	0.26517	0.07	T	0.06427	-1.0827	10	0.18276	T	0.48	-8.2687	19.5573	0.95357	0.0:0.0:1.0:0.0	.	114	Q9UBP5	HEY2_HUMAN	T	68;114	ENSP00000357349:A68T;ENSP00000357348:A114T	ENSP00000357348:A114T	A	+	1	0	HEY2	126121967	1.000000	0.71417	0.872000	0.34217	0.948000	0.59901	7.917000	0.87498	2.629000	0.89072	0.561000	0.74099	GCA		0.527	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			3	74	0	0	0	1	0	3	74				
CCDC174	51244	broad.mit.edu	37	3	14706561	14706561	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr3:14706561G>A	ENST00000383794.3	+	6	585	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCTTTGGGGCGTTCCCGGCGC	0.473																																						uc003byw.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						c.(511-513)cGt>cAt		Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.							169.0	163.0	165.0					3																	14706561		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14706561G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.512G>A	3.37:g.14706561G>A	ENSP00000373304:p.Arg171His					C3orf19_uc010hei.1_Missense_Mutation_p.R171H|C3orf19_uc010hej.3_Missense_Mutation_p.R76H	p.R171H	NM_016474	NP_057558	Q6PII3	CC019_HUMAN			5	603	+			171					Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.512G>A	CCDS2620.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.799752|3.799752	0.70567|0.70567	.|.	.|.	ENSG00000154781|ENSG00000154781	ENST00000383794;ENST00000303688|ENST00000285042	T;T|.	0.72505|.	-0.66;0.03|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.146815|.	0.45606|.	D|.	0.000344|.	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.87153|0.87153	0.2210|0.2210	10|6	0.72032|0.66056	D|D	0.01|0.02	-12.0105|-12.0105	17.2927|17.2927	0.87162|0.87162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171|.	Q6PII3|.	CC019_HUMAN|.	H|I	171|76	ENSP00000373304:R171H;ENSP00000302344:R171H|.	ENSP00000302344:R171H|ENSP00000285042:V76I	R|V	+|+	2|1	0|0	C3orf19|C3orf19	14681565|14681565	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.833000|0.833000	0.47200|0.47200	7.196000|7.196000	0.77805|0.77805	2.374000|2.374000	0.81015|0.81015	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.473	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		4	173	0	0	0	1	0	4	173				
GTPBP4	23560	broad.mit.edu	37	10	1046805	1046805	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr10:1046805C>A	ENST00000360803.4	+	7	925	c.843C>A	c.(841-843)aaC>aaA	p.N281K	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.N165K|GTPBP4_ENST00000545048.1_Missense_Mutation_p.N234K	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	281	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCTTCATCAACAAGGTGTGTG	0.463																																						uc001ift.3																			0		p.I280I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(841-843)aaC>aaA		Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.							223.0	216.0	218.0					10																	1046805		2203	4300	6503	SO:0001583	missense	23560				negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046805C>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.843C>A	10.37:g.1046805C>A	ENSP00000354040:p.Asn281Lys					GTPBP4_uc010qac.1_Missense_Mutation_p.N72K|GTPBP4_uc010qad.2_Missense_Mutation_p.N165K|GTPBP4_uc010qae.2_Missense_Mutation_p.N234K	p.N281K	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	914	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	281					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.843C>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508382	0.64410	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.34072	2.55;1.38;2.55	6.07	3.01	0.34805	Nucleolar GTP-binding 1 (1);Small GTP-binding protein domain (1);	0.155741	0.64402	D	0.000017	T	0.45875	0.1364	M	0.72479	2.2	0.80722	D	1	P	0.50156	0.932	P	0.52758	0.708	T	0.37709	-0.9694	10	0.66056	D	0.02	-29.7872	7.2396	0.26090	0.0:0.5074:0.0:0.4926	.	281	Q9BZE4	NOG1_HUMAN	K	281;165;234	ENSP00000354040:N281K;ENSP00000444277:N165K;ENSP00000445473:N234K	ENSP00000354040:N281K	N	+	3	2	GTPBP4	1036805	0.997000	0.39634	0.999000	0.59377	0.625000	0.37756	0.461000	0.21940	0.403000	0.25479	0.655000	0.94253	AAC		0.463	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		4	202	0	0	0	1	0	4	202				
ZNF678	339500	broad.mit.edu	37	1	227843206	227843206	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:227843206C>T	ENST00000343776.5	+	4	1600	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAGTGCTCTCACCTAACTAG	0.368																																						uc021pjy.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1420-1422)Cac>Tac		Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.							28.0	32.0	31.0					1																	227843206		2200	4290	6490	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843206C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1255C>T	1.37:g.227843206C>T	ENSP00000344828:p.His419Tyr					ZNF678_uc001hqw.2_Missense_Mutation_p.H419Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	p.H474Y	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN			3	1596	+		Prostate(94;0.0885)	474					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1420C>T		.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303848	0.01353	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.13089	2.62;2.62	1.5	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.16201	0.385	0.09310	N	1	B	0.30870	0.298	B	0.32090	0.14	T	0.38178	-0.9673	9	0.14252	T	0.57	.	1.3632	0.02196	0.203:0.4273:0.2021:0.1677	.	419	Q5SXM1	ZN678_HUMAN	Y	419;474	ENSP00000344828:H419Y;ENSP00000440403:H474Y	ENSP00000344828:H419Y	H	+	1	0	ZNF678	225909829	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-6.766000	0.00054	-1.378000	0.02120	-1.284000	0.01376	CAC		0.368	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		3	57	0	0	0	1	0	3	57				
DPP8	54878	broad.mit.edu	37	15	65739246	65739246	+	Silent	SNP	A	A	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65739246A>C	ENST00000341861.5	-	20	4253	c.2673T>G	c.(2671-2673)cgT>cgG	p.R891R	DPP8_ENST00000339244.5_Silent_p.R718R|DPP8_ENST00000559233.1_Silent_p.R891R|DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000321118.7_Silent_p.R842R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	891					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGCAGCAATACGTGATCCAA	0.388																																						uc002aov.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2671-2673)cgT>cgG		Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.							166.0	159.0	161.0					15																	65739246		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65739246A>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2673T>G	15.37:g.65739246A>C						DPP8_uc002aow.3_Silent_p.R891R|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.R875R|DPP8_uc002aox.3_Silent_p.R875R|DPP8_uc002aoy.3_Silent_p.R840R|DPP8_uc002aoz.3_Silent_p.R775R|DPP8_uc010bhj.3_Silent_p.R891R|DPP8_uc010bhi.3_Silent_p.R194R	p.R891R	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			19	4251	-			891					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.2673T>G	CCDS10207.1																																																																																				0.388	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		53	61	0	0	0	1	0	53	61				
SLC26A10	65012	broad.mit.edu	37	12	58016597	58016597	+	Silent	SNP	G	G	T			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:58016597G>T	ENST00000320442.4	+	6	1130	c.819G>T	c.(817-819)ctG>ctT	p.L273L	SLC26A10_ENST00000379218.2_Silent_p.L273L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	273						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCCCAACCTGGCTGAGCTGC	0.567																																						uc001spe.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(817-819)ctG>ctT		Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.							92.0	78.0	83.0					12																	58016597		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58016597G>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.819G>T	12.37:g.58016597G>T						SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	p.L273L	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			5	1130	+	Melanoma(17;0.122)		273					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.819G>T	CCDS8949.2																																																																																				0.567	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			6	155	0	0	0	1	0	6	155				
TMEM88B	643965	broad.mit.edu	37	1	1361531	1361533	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:1361531_1361533delGGA	ENST00000378821.3	+	1	24_26	c.24_26delGGA	c.(22-27)acggag>acg	p.E12del		NM_001146685.1	NP_001140157.1	A6NKF7	TM88B_HUMAN	transmembrane protein 88B	12	Poly-Glu.					integral component of membrane (GO:0016021)											GGAGGGAGACGGAGGAGGAGGAG	0.7																																						uc010nyp.2																			0											c.(22-27)acggag>acg		Homo sapiens transmembrane protein 88B (TMEM88B), mRNA.				16,8,2634		2,0,12,2,4,1309						-1.9	0.0			23	1,9,5546		0,0,1,1,7,2769	no	codingComplex	TMEM88B	NM_001146685.1		2,0,13,3,11,4078	A1A1,A1A2,A1R,A2A2,A2R,RR		0.18,0.9029,0.4139				17,17,8180				SO:0001651	inframe_deletion	643965					integral to membrane		g.chr1:1361531_1361533delGGA		CCDS57964.1	1p36.33	2013-01-16			ENSG00000205116	ENSG00000205116			37099	protein-coding gene	gene with protein product							Standard	NM_001146685		Approved		uc010nyp.2	A6NKF7	OTTHUMG00000153395	ENST00000378821.3:c.24_26delGGA	1.37:g.1361540_1361542delGGA	ENSP00000455099:p.Glu12del						p.E12del	NM_001146685	NP_001140157	A6NKF7	TM88B_HUMAN			0	24_26	+			12			Poly-Glu.			In_Frame_Del	DEL	ENST00000378821.3	37	c.24_26delGGA	CCDS57964.1																																																																																				0.700	TMEM88B-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331012.2	NM_001146685		2	4						2	4	---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176944986	176944988	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:176944986_176944988delCCG	ENST00000308618.4	-	3	1414_1416	c.1278_1280delCGG	c.(1276-1281)ggcggg>ggg	p.426_427GG>G		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	426	Poly-Gly.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		Cccggcgcccccgccgccgccgc	0.783																																						uc010zeu.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(1276-1281)ggcggg>ggg		Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.																																				SO:0001651	inframe_deletion	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176944986_176944988delCCG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.1278_1280delCGG	2.37:g.176944995_176944997delCCG	ENSP00000312385:p.Gly428del						p.426_427GG>G	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	1464_1466	-			426			Poly-Gly.			In_Frame_Del	DEL	ENST00000308618.4	37	c.1278_1280delCGG	CCDS33333.1																																																																																				0.783	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			2	4						2	4	---	---	---	---
UBE2W	55284	broad.mit.edu	37	8	74717937	74717937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:74717937delA	ENST00000602593.1	-	5	443	c.391delT	c.(391-393)tatfs	p.Y131fs	UBE2W_ENST00000517608.1_Frame_Shift_Del_p.Y160fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	131					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GTTCGCACATAAAAAGAATTA	0.299																																					Pancreas(14;490 592 20090 21022 23311)	uc003xzu.3																			0				kidney(1)|lung(1)	2						c.(424-426)tatfs		Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 1, mRNA.							78.0	69.0	72.0					8																	74717937		1793	4058	5851	SO:0001589	frameshift_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74717937delA	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.391delT	8.37:g.74717937delA	ENSP00000473561:p.Tyr131fs					UBE2W_uc003xzt.2_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzv.3_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzw.3_Non-coding_Transcript	p.Y142fs	NM_001001481	NP_001001481	Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		5	477	-	Breast(64;0.0311)		131					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	ENST00000602593.1	37	c.424delT																																																																																					0.299	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		2	4						2	4	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145515453	145515454	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:145515453_145515454insGG	ENST00000528838.1	+	1	174_175	c.14_15insGG	c.(13-18)gtgggcfs	p.VG5fs	BOP1_ENST00000307404.5_5'Flank|BOP1_ENST00000529231.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	5					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GATCTGCCCGTgggccccggcg	0.728																																						uc003zbt.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(13-15)gtgfs		Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.																																				SO:0001589	frameshift_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145515453_145515454insGG	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.15_16dupGG	8.37:g.145515454_145515455dupGG	ENSP00000431512:p.Val5fs					BOP1_uc003zbr.1_5'Flank|HSF1_uc003zbu.4_Non-coding_Transcript	p.V5fs	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		0	184_185	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5					A8K4L0|A8MW26|Q53XT4	Frame_Shift_Ins	INS	ENST00000528838.1	37	c.14_15insGG	CCDS6419.1																																																																																				0.728	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		2	4						2	4	---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41179384	41179384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:41179384delC	ENST00000252891.4	-	8	1068	c.901delG	c.(901-903)gttfs	p.V301fs	NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	301					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCCTGGCGAACCAGCTGCTCC	0.657																																						uc002oon.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(901-903)gttfs		Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.							26.0	22.0	24.0					19																	41179384		2202	4297	6499	SO:0001589	frameshift_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41179384delC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.901delG	19.37:g.41179384delC	ENSP00000252891:p.Val301fs					NUMBL_uc010xvq.2_Frame_Shift_Del_p.V260fs|NUMBL_uc010xvr.2_Frame_Shift_Del_p.V260fs|NUMBL_uc002ooo.3_Frame_Shift_Del_p.V300fs	p.V301fs	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		7	1069	-			301					Q7Z4J9	Frame_Shift_Del	DEL	ENST00000252891.4	37	c.901delG	CCDS12561.1																																																																																				0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	4						2	4	---	---	---	---
